{ "uniprot_canonical_ac": "P02545-1", "uniprot_ac": "P02545", "uniprot_id": "LMNA_HUMAN", "mass": { "chemical_mass": 74139.0, "monoisotopic_mass": 74139.0 }, "refseq": { "ac": "NP_001244303", "name": "lamin isoform D", "summary": "The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" }, "gene_names": [ { "name": "LMNA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02545", "id": "P02545" }, { "name": "CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; MADA; PRO1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "id": "NP_001244303" }, { "name": "LMN1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02545", "id": "P02545" }, { "name": "LMNA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "id": "NP_001244303" } ], "protein_names": [ { "name": "Prelamin-A/C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02545" }, { "name": "70 kDa lamin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02545" }, { "name": "Renal carcinoma antigen NY-REN-32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02545" }, { "name": "lamin A/C-like 1; 70 kDa lamin; prelamin-A/C; lamin C; progerin; renal carcinoma antigen NY-REN-32; mandibuloacral dysplasia type A; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "id": "NP_001244303" }, { "name": "lamin isoform D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "id": "NP_001244303" } ], "function": [ { "annotation": "Hutchinson-Gilford progeria appears to represent a novel laminopathy, caused by a single heterozygous splicing mutation in the LMNA gene, leading to a major loss of Lamin A expression, intimately associated to nuclear alterations", "evidence": [ { "database": "RefSeq", "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" }, { "database": "PubMed", "id": "12702809", "url": "https://glygen.org/publication/PubMed/12702809" } ] }, { "annotation": "Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:31548606). Lamin A and C are present in equal amounts in the lamina of mammals (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:22431096, PubMed:23666920, PubMed:31548606). Recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:10814726, PubMed:11799477, PubMed:18551513, PubMed:22431096). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:23666920, PubMed:18611980).", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545#function" }, { "database": "PubMed", "id": "12075506", "url": "https://glygen.org/publication/PubMed/12075506" }, { "database": "PubMed", "id": "22431096", "url": "https://glygen.org/publication/PubMed/22431096" }, { "database": "PubMed", "id": "10814726", "url": "https://glygen.org/publication/PubMed/10814726" }, { "database": "PubMed", "id": "18551513", "url": "https://glygen.org/publication/PubMed/18551513" }, { "database": "PubMed", "id": "15317753", "url": "https://glygen.org/publication/PubMed/15317753" }, { "database": "PubMed", "id": "11799477", "url": "https://glygen.org/publication/PubMed/11799477" }, { "database": "PubMed", "id": "10587585", "url": "https://glygen.org/publication/PubMed/10587585" }, { "database": "PubMed", "id": "23666920", "url": "https://glygen.org/publication/PubMed/23666920" }, { "database": "PubMed", "id": "10080180", "url": "https://glygen.org/publication/PubMed/10080180" }, { "database": "PubMed", "id": "18611980", "url": "https://glygen.org/publication/PubMed/18611980" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" }, { "database": "PubMed", "id": "10580070", "url": "https://glygen.org/publication/PubMed/10580070" }, { "database": "PubMed", "id": "12927431", "url": "https://glygen.org/publication/PubMed/12927431" } ] }, { "annotation": "Observations implicate lamin A in physiological aging", "evidence": [ { "database": "RefSeq", "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" }, { "database": "PubMed", "id": "16645051", "url": "https://glygen.org/publication/PubMed/16645051" } ] }, { "annotation": "Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545#function" }, { "database": "PubMed", "id": "20458013", "url": "https://glygen.org/publication/PubMed/20458013" } ] }, { "annotation": "The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" } ] } ], "disease": [ { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "evidence": [ { "id": "151660", "database": "MIM", "url": "https://www.omim.org/entry/151660" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ], "evidence": [ { "id": "151660", "database": "MIM", "url": "https://www.omim.org/entry/151660" } ] }, { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ], "evidence": [ { "id": "181350", "database": "MIM", "url": "https://www.omim.org/entry/181350" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ], "evidence": [ { "id": "616516", "database": "MIM", "url": "https://www.omim.org/entry/616516" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ], "evidence": [ { "id": "619793", "database": "MIM", "url": "https://www.omim.org/entry/619793" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ], "evidence": [ { "id": "248370", "database": "MIM", "url": "https://www.omim.org/entry/248370" } ] }, { "disease_id": "DOID:0081332", "recommended_name": { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndrome", "description": "A syndrome that is characterized by the premature onset of age-related pathologies." }, "synonyms": [ { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081332", "name": "progeroid disease", "description": "" }, { "id": "DOID:0081332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081332", "name": "progeroid syndromes", "description": "" } ], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ], "evidence": [ { "id": "605588", "database": "MIM", "url": "https://www.omim.org/entry/605588" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "115200", "database": "MIM", "url": "https://www.omim.org/entry/115200" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ], "evidence": [ { "id": "613205", "database": "MIM", "url": "https://www.omim.org/entry/613205" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ], "evidence": [ { "id": "212112", "database": "MIM", "url": "https://www.omim.org/entry/212112" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "115200", "database": "MIM", "url": "https://www.omim.org/entry/115200" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ], "evidence": [ { "id": "176670", "database": "MIM", "url": "https://www.omim.org/entry/176670" } ] }, { "disease_id": "MONDO:0012417", "recommended_name": { "id": "MONDO:0012417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012417", "name": "heart-hand syndrome, Slovenian type", "description": "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." }, "synonyms": [ { "id": "MONDO:0012417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012417", "name": "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome", "description": "" }, { "id": "MONDO:0012417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012417", "name": "atriodigital dysplasia, Slovenian type", "description": "" }, { "id": "MONDO:0012417", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012417", "name": "heart-hand syndrome, Slovenian type", "description": "" }, { "id": "MIM:610140", "resource": "MIM", "url": "https://www.omim.org/entry/610140", "name": "Heart-hand syndrome Slovenian type", "description": "Heart-hand syndrome Slovenian type" } ], "evidence": [ { "id": "610140", "database": "MIM", "url": "https://www.omim.org/entry/610140" } ] } ], "snv": [ { "evidence": [ { "id": "rs1324173045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324173045" }, { "id": "rs1324173045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324173045" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 601, "end_pos": 601, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS); o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "156138591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S601", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777900936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777900936" }, { "id": "rs777900936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777900936" }, { "id": "rs777900936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777900936#frequency_tab" }, { "id": "rs777900936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777900936" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRS->NRS); o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "156138717", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461165954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461165954" }, { "id": "rs1461165954", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461165954" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 24, "end_pos": 24, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "156114988", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1195524446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195524446" }, { "id": "rs1195524446", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195524446#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 24, "end_pos": 24, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156114989", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs267607630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607630" }, { "id": "rs267607630", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267607630" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 268, "end_pos": 268, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "156134967", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S268", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs863225270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs863225270" }, { "id": "rs863225270", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs863225270" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 27, "end_pos": 27, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156114998", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T27", "disease": [ { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs765241364", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765241364" }, { "id": "rs765241364", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765241364" }, { "id": "rs765241364", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765241364#frequency_tab" }, { "id": "rs765241364", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765241364" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 283, "end_pos": 283, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "1", "chr_pos": "156135224", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N283", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P02545", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02545" } ], "glycoeffect": [], "start_pos": 296, "end_pos": 296, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "156135263", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R296", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": 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2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs876657849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs876657849" }, { "id": "rs876657849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs876657849" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 436, "end_pos": 436, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "156136362", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T436", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs773638171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773638171" }, { "id": "rs773638171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773638171" }, { "id": "rs773638171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773638171" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 436, "end_pos": 436, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156136363", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1255332623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1255332623" }, { "id": "rs1255332623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1255332623" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 437, "end_pos": 437, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "156136365", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs267607577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267607577" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 437, "end_pos": 437, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->null).", "chr_id": "1", "chr_pos": "156136352GCAC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs59981161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs59981161" }, { "id": "rs59981161", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs59981161" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 486, "end_pos": 486, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "1", "chr_pos": "156136998", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K486", "disease": [ { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", 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"https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs58362413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs58362413" }, { "id": "rs58362413", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs58362413" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 520, "end_pos": 520, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTW->NTS).", "chr_id": "1", "chr_pos": "156137183", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W520", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease 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"name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C 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"https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA 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"T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "1", "chr_pos": "156138651", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T621", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs757888891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757888891" }, { "id": "rs757888891", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757888891" }, { "id": "rs757888891", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757888891" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 623, "end_pos": 623, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "156138656", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747253572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747253572" }, { "id": "rs747253572", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747253572" }, { "id": "rs747253572", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747253572" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 628, "end_pos": 628, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "1", "chr_pos": "156138671", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S628", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777900936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777900936" }, { "id": "rs777900936", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777900936" }, { "id": "rs777900936", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777900936#frequency_tab" }, { "id": "rs777900936", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777900936" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156138717", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1572369826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1572369826" }, { "id": "rs1572369826", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1572369826" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "156138716", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753191587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753191587" }, { "id": "rs753191587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753191587" }, { "id": "rs753191587", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753191587#frequency_tab" }, { "id": "rs753191587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753191587" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TES->NES).", "chr_id": "1", "chr_pos": "156115109", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1306829976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306829976" }, { "id": "rs1306829976", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1306829976#frequency_tab" }, { "id": "rs1306829976", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1306829976" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 91, "end_pos": 91, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "156115190", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T91", "disease": [ { "disease_id": "DOID:0070247", "recommended_name": { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EDMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "EMD2", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "DOID:0070247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070247", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EDMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Hauptmann-Thannhauser muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LGMD1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "LMNA autosomal dominant limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "autosomal dominant limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "proximal muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "EMD2", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "limb-girdle muscular dystrophy type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, limb-girdle, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "muscular dystrophy, proximal, type 1B", "description": "" }, { "id": "MONDO:0021569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021569", "name": "scapuloilioperoneal atrophy with cardiopathy", "description": "" }, { "id": "MIM:181350", "resource": "MIM", "url": "https://www.omim.org/entry/181350", "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant", "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" } ] }, { "disease_id": "DOID:0110156", "recommended_name": { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "CMT2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "DOID:0110156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110156", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "AR-CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease neuronal type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "LMNA Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal CMT4C1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "CMT 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot Marie Tooth disease type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, axonal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth disease, neuronal, type 2B1", "description": "" }, { "id": "MONDO:0011569", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011569", "name": "Charcot-Marie-Tooth neuropathy, type 2B1", "description": "" }, { "id": "MIM:605588", "resource": "MIM", "url": "https://www.omim.org/entry/605588", "name": "Charcot-Marie-Tooth disease, axonal, 2B1", "description": "Charcot-Marie-Tooth disease, axonal, 2B1" } ] }, { "disease_id": "DOID:0110640", "recommended_name": { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "L-CMD", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "DOID:0110640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110640", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "L-CMD", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "LMNA-related congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "congenital muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy Congenital, LMNA-related", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "MDCL", "description": "" }, { "id": "MONDO:0013178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013178", "name": "muscular dystrophy, congenital, LMNA-related", "description": "" }, { "id": "MIM:613205", "resource": "MIM", "url": "https://www.omim.org/entry/613205", "name": "Muscular dystrophy congenital LMNA-related", "description": "Muscular dystrophy congenital LMNA-related" } ] }, { "disease_id": "DOID:0110425", "recommended_name": { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "CDCD1", "description": "" }, { "id": "DOID:0110425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110425", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ] }, { "disease_id": "DOID:0111584", "recommended_name": { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with premature ovarian failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Malouf syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "Najjar syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiogenital syndrome", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "cardiomyopathy eith primary testicular failure", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "congestive cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:0111584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111584", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Malouf syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "Najjar syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiogenital syndrome", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy with primary testicular failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "cardiomyopathy, dilated, with premature ovarian failure", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "dilated cardiomyopathy with hypergonadotropic hypogonadism", "description": "" }, { "id": "MONDO:0008915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008915", "name": "genital anomaly with cardiomyopathy", "description": "" }, { "id": "MIM:212112", "resource": "MIM", "url": "https://www.omim.org/entry/212112", "name": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "description": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism" } ] }, { "disease_id": "DOID:0070248", "recommended_name": { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "DOID:0070248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070248", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EDMD3", "description": "" }, { "id": "MONDO:0014676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014676", "name": "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "" }, { "id": "MIM:616516", "resource": "MIM", "url": "https://www.omim.org/entry/616516", "name": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "description": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" } ] }, { "disease_id": "DOID:0050440", "recommended_name": { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." }, "synonyms": [ { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Dunnigan Syndrome", "description": "" }, { "id": "DOID:0050440", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050440", "name": "Koberling-Dunnigan Syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:0070202", "recommended_name": { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21." }, "synonyms": [ { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "FPLD2", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "DOID:0070202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070202", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy, Dunnigan type", "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "Dunnigan syndrome", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPLD2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial lipodystrophy of limbs and lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "familial partial lipodystrophy type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "reverse partial lipodystrophy", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "FPL2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, Dunnigan type", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial partial, type 2", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, familial, of limbs and Lower trunk", "description": "" }, { "id": "MONDO:0007906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007906", "name": "lipodystrophy, reverse partial", "description": "" }, { "id": "MIM:151660", "resource": "MIM", "url": "https://www.omim.org/entry/151660", "name": "Lipodystrophy, familial partial, 2", "description": "Lipodystrophy, familial partial, 2" } ] }, { "disease_id": "DOID:3911", "recommended_name": { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "HGPS", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford Progeria syndrome", "description": "" }, { "id": "DOID:3911", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3911", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "HGPS", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford disease", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson-Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "premature senility syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "Hutchinson Gilford progeria syndrome", "description": "" }, { "id": "MONDO:0008310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008310", "name": "progeria syndrome, childhood-onset", "description": "" }, { "id": "MIM:176670", "resource": "MIM", "url": "https://www.omim.org/entry/176670", "name": "Hutchinson-Gilford progeria syndrome", "description": "Hutchinson-Gilford progeria syndrome" } ] }, { "disease_id": "DOID:0081128", "recommended_name": { "id": "DOID:0081128", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0081127", "recommended_name": { "id": "DOID:0081127", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081127", "name": "mandibuloacral dysplasia", "description": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." }, "synonyms": [ { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "mandibuloacral dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MADA", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "MANDIBULOACRAL dysplasia with type A lipodystrophy", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "Mandibuloacral dysplasia with type a lipodystrophy, atypical", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "craniomandibular Dermatodysostosis", "description": "" }, { "id": "MONDO:0009557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009557", "name": "lipodystrophy, type A, associated with Mandibuloacral dysplasia", "description": "" }, { "id": "MIM:248370", "resource": "MIM", "url": "https://www.omim.org/entry/248370", "name": "Mandibuloacral dysplasia with type A lipodystrophy", "description": "Mandibuloacral dysplasia with type A lipodystrophy" } ] }, { "disease_id": "DOID:0070370", "recommended_name": { "id": "DOID:0070370", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." }, "synonyms": [ { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "RSDM2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2", "description": "" }, { "id": "MONDO:0030781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030781", "name": "restrictive dermopathy 2, lethal", "description": "" }, { "id": "MIM:619793", "resource": "MIM", "url": "https://www.omim.org/entry/619793", "name": "Restrictive dermopathy 2", "description": "Restrictive dermopathy 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 201, "end_pos": 201, "sequence_org": "K", "sequence_mut": "L", "comment": "Decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "18606848", "url": "https://glygen.org/publication/PubMed/18606848" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased accumulation to the double-strand break (DSB) sites.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "D", "comment": "Increased accumulation to the double-strand break (DSB) sites.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of interaction with IFFO1.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "start_pos": 386, "end_pos": 386, "sequence_org": "R", "sequence_mut": "M", "comment": "Loss of interaction with IFFO1.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "start_pos": 644, "end_pos": 644, "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect tail cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "start_pos": 647, "end_pos": 647, "sequence_org": "L", "sequence_mut": "R", "comment": "Completely inhibits tail cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "start_pos": 648, "end_pos": 648, "sequence_org": "L", "sequence_mut": "A", "comment": "Completely inhibits tail cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "start_pos": 650, "end_pos": 650, "sequence_org": "N", "sequence_mut": "A", "comment": "Partially inhibits tail cleavage.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "start_pos": 661, "end_pos": 661, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of interaction with NARF. Abolishes farnesylation.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "10514485", "url": "https://glygen.org/publication/PubMed/10514485" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "97.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160789", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160789" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02545", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02545" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02545", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02545" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02545", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02545" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02545", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02545" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02545", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02545" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"https://www.rcsb.org/structure/6GHD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6JLB", "url": "https://www.rcsb.org/structure/6JLB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RPR", "url": "https://www.rcsb.org/structure/6RPR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SNZ", "url": "https://www.rcsb.org/structure/6SNZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YF5", "url": "https://www.rcsb.org/structure/6YF5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YJD", "url": "https://www.rcsb.org/structure/6YJD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CRG", "url": "https://www.rcsb.org/structure/7CRG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7D9N", "url": "https://www.rcsb.org/structure/7D9N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7X5D", "url": "https://www.rcsb.org/structure/7X5D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YVD", "url": "https://www.rcsb.org/structure/7YVD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Z21", "url": "https://www.rcsb.org/structure/7Z21", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00932", "url": "http://pfam.xfam.org/family/PF00932", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02545", "url": "https://pharos.nih.gov/targets/P02545", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P02545", "url": "http://purl.obolibrary.org/obo/PR_P02545", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF59", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF59-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF80", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF80-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFF5", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFF5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFF5-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFF5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFJ0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFJ0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFM1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFM1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFM1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFM1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGH0", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGH0-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHQ9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHQ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHQ9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHQ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL68", "url": "https://www.uniprot.org/uniprot/A0A804HL68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL68-1", "url": "https://www.uniprot.org/uniprot/A0A804HL68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RB20", "url": "https://www.uniprot.org/uniprot/D6RB20", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RB20-1", "url": "https://www.uniprot.org/uniprot/D6RB20-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAB0", "url": "https://www.uniprot.org/uniprot/H0YAB0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAB0-1", "url": "https://www.uniprot.org/uniprot/H0YAB0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-1", "url": "https://www.uniprot.org/uniprot/P02545-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-2", "url": "https://www.uniprot.org/uniprot/P02545-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-3", "url": "https://www.uniprot.org/uniprot/P02545-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-4", "url": "https://www.uniprot.org/uniprot/P02545-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-5", "url": "https://www.uniprot.org/uniprot/P02545-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02545-6", "url": "https://www.uniprot.org/uniprot/P02545-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3BDU5", "url": "https://www.uniprot.org/uniprot/Q3BDU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3BDU5-1", "url": "https://www.uniprot.org/uniprot/Q3BDU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TCI8", "url": "https://www.uniprot.org/uniprot/Q5TCI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TCI8-1", "url": "https://www.uniprot.org/uniprot/Q5TCI8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM", "length": 664, "header": "sp|P02545-1|LMNA_HUMAN Isoform 1 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF59-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARFASDGKS", "length": 126, "header": "tr|A0A6Q8PF59-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156126757, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674600.1", "url": "https://www.ensembl.org/id/ENST00000674600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501666.1", "url": "https://www.ensembl.org/id/ENSP00000501666.1" } ] } }, { "isoform_ac": "A0A6Q8PF80-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQGPWELTKPSHPPSAGSQGGEASRPGGLTGP", "length": 342, "header": "tr|A0A6Q8PF80-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156135950, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675881.1", "url": "https://www.ensembl.org/id/ENST00000675881.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501670.1", "url": "https://www.ensembl.org/id/ENSP00000501670.1" } ] } }, { "isoform_ac": "A0A6Q8PFF5-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRAAPSHHRV", "length": 36, "header": "tr|A0A6Q8PFF5-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156115115, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675455.1", "url": "https://www.ensembl.org/id/ENST00000675455.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501795.1", "url": "https://www.ensembl.org/id/ENSP00000501795.1" } ] } }, { "isoform_ac": "A0A6Q8PFJ0-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQVSCLCFVSKSCRRVPGHRGVGRGGLAGGRACLLFRSPGEWEPPPHSLSPRQPTSASCPSCLSPRLEGRGRAGV", "length": 729, "header": "tr|A0A6Q8PFJ0-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156138976, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675667.1", "url": "https://www.ensembl.org/id/ENST00000675667.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501803.1", "url": "https://www.ensembl.org/id/ENSP00000501803.1" } ] } }, { "isoform_ac": "A0A6Q8PFM1-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARLRQP", "length": 123, "header": "tr|A0A6Q8PFM1-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156134415, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675874.1", "url": "https://www.ensembl.org/id/ENST00000675874.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501851.1", "url": "https://www.ensembl.org/id/ENSP00000501851.1" } ] } }, { "isoform_ac": "A0A6Q8PGH0-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYRAA", "length": 214, "header": "tr|A0A6Q8PGH0-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156134812, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674518.1", "url": "https://www.ensembl.org/id/ENST00000674518.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502261.1", "url": "https://www.ensembl.org/id/ENSP00000502261.1" } ] } }, { "isoform_ac": "A0A6Q8PHQ9-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEVGSCSGSKGIQLHQGESGKTEGWHVERGTSLPSEGGPGTSPWAIGRSSARMEMIPC", "length": 516, "header": "tr|A0A6Q8PHQ9-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156136975, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674720.1", "url": "https://www.ensembl.org/id/ENST00000674720.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502798.1", "url": "https://www.ensembl.org/id/ENSP00000502798.1" } ] } }, { "isoform_ac": "A0A804HL68-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRSGHAQAGALSDCG", "length": 540, "header": "tr|A0A804HL68-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156137694, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684195.1", "url": "https://www.ensembl.org/id/ENST00000684195.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508220.1", "url": "https://www.ensembl.org/id/ENSP00000508220.1" } ] } }, { "isoform_ac": "D6RB20-1", "url": "", "sequence": { "sequence": "MQPLLCLGNLEDARERTGTLLAQHPAWGRTRAKPGSPL", "length": 38, "header": "tr|D6RB20-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": {} }, { "isoform_ac": "H0YAB0-1", "url": "", "sequence": { "sequence": "MLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM", "length": 478, "header": "tr|H0YAB0-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=3 CANONICAL=P02545-1" }, "locus": {} }, { "isoform_ac": "P02545-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM", "length": 664, "header": "sp|P02545-1|LMNA_HUMAN Isoform 1 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139103, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683032.1", "url": "https://www.ensembl.org/id/ENST00000683032.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506771.1", "url": "https://www.ensembl.org/id/ENSP00000506771.1" } ] } }, { "isoform_ac": "P02545-2", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHVSGSRR", "length": 572, "header": "sp|P02545-2|LMNA_HUMAN Isoform 2 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156137761, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368301.6", "url": "https://www.ensembl.org/id/ENST00000368301.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000357284.2", "url": "https://www.ensembl.org/id/ENSP00000357284.2" } ] } }, { "isoform_ac": "P02545-3", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM", "length": 634, "header": "sp|P02545-3|LMNA_HUMAN Isoform 3 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139103, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682650.1", "url": "https://www.ensembl.org/id/ENST00000682650.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506904.1", "url": "https://www.ensembl.org/id/ENSP00000506904.1" } ] } }, { "isoform_ac": "P02545-4", "url": "", "sequence": { "sequence": "MGNSEGCNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP", "length": 574, "header": "sp|P02545-4|LMNA_HUMAN Isoform 4 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139836, "end_pos": 156126204, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448611.6", "url": "https://www.ensembl.org/id/ENST00000448611.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395597.2", "url": "https://www.ensembl.org/id/ENSP00000395597.2" } ] } }, { "isoform_ac": "P02545-5", "url": "", "sequence": { "sequence": "MDLEAWDPHLEPDAEAMVDGNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM", "length": 565, "header": "sp|P02545-5|LMNA_HUMAN Isoform 5 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139103, "end_pos": 156129850, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000473598.6", "url": "https://www.ensembl.org/id/ENST00000473598.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000421821.1", "url": "https://www.ensembl.org/id/ENSP00000421821.1" } ] } }, { "isoform_ac": "P02545-6", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQSPQNCSIM", "length": 614, "header": "sp|P02545-6|LMNA_HUMAN Isoform 6 of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139103, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368299.7", "url": "https://www.ensembl.org/id/ENST00000368299.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000357282.3", "url": "https://www.ensembl.org/id/ENSP00000357282.3" } ] } }, { "isoform_ac": "Q3BDU5-1", "url": "", "sequence": { "sequence": "METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHVSGSRR", "length": 487, "header": "tr|Q3BDU5-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156139103, "end_pos": 156114919, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361308", "url": "https://www.ensembl.org/id/ENST00000361308" }, { "database": "Ensembl Peptide", "id": "ENSP00000355292", "url": "https://www.ensembl.org/id/ENSP00000355292" } ] } }, { "isoform_ac": "Q5TCI8-1", "url": "", "sequence": { "sequence": "MQPLLCLGNLEDARERTGTLLAQHPAWGRTRAKPGSPLNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHVSGSRR", "length": 491, "header": "tr|Q5TCI8-1|LMNA_HUMAN Computationally mapped isoform of Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 CANONICAL=P02545-1" }, "locus": { "chromosome": "1", "start_pos": 156137761, "end_pos": 156126803, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000368297.5", "url": "https://www.ensembl.org/id/ENST00000368297.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000357280.1", "url": "https://www.ensembl.org/id/ENSP00000357280.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 18, "start_aa": "Ser", "end_pos": 18, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser18", "evidence": [ { "id": "P02545", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34065225", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34065225" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "22661428", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22661428" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "29772801", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29772801" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28604694", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28604694" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "27655845", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27655845" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "25367160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25367160" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 24, "start_aa": "Thr", "end_pos": 24, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr24", "evidence": [ { "id": "P02545", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 268, "start_aa": "Ser", "end_pos": 268, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser268", "evidence": [ { "id": "P02545", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34065225", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34065225" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "35289036", "database": 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J. Cancer", "date": "1999", "authors": "Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT, Old LJ", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10508479", "url": "https://glygen.org/publication/PubMed/10508479" } ] }, { "title": "Prenylated prelamin A interacts with Narf, a novel nuclear protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Barton RM, Worman HJ", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10514485", "url": "https://glygen.org/publication/PubMed/10514485" } ] }, { "title": "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.", "journal": "The New England journal of medicine", "date": "1999", "authors": "Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10580070", "url": "https://glygen.org/publication/PubMed/10580070" } ] }, { "title": "Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.", "journal": "Human molecular genetics", "date": "2000", "authors": "Cao H, Hegele RA", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10587585", "url": "https://glygen.org/publication/PubMed/10587585" } ] }, { "title": "Stress-associated endoplasmic reticulum protein 1 (SERP1)/Ribosome-associated membrane protein 4 (RAMP4) stabilizes membrane proteins during stress and facilitates subsequent glycosylation.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Yamaguchi A, Hori O, Stern DM, Hartmann E, Ogawa S, Tohyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10601334", "url": "https://glygen.org/publication/PubMed/10601334" } ] }, { "title": "LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.", "journal": "Nature genetics", "date": "2000", "authors": "Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10655060", "url": "https://glygen.org/publication/PubMed/10655060" } ] }, { "title": "Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.", "journal": "American journal of human genetics", "date": "2000", "authors": "Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10739751", "url": "https://glygen.org/publication/PubMed/10739751" } ] }, { "title": "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.", "journal": "American journal of human genetics", "date": "2000", "authors": "Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10739764", "url": "https://glygen.org/publication/PubMed/10739764" } ] }, { "title": "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).", "journal": "Human molecular genetics", "date": "2000", "authors": "Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10814726", "url": "https://glygen.org/publication/PubMed/10814726" } ] }, { "title": "HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Yu M, Haslam RH, Haslam DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10827079", "url": "https://glygen.org/publication/PubMed/10827079" } ] }, { "title": "Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.", "journal": "Neurology", "date": "2000", "authors": "Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10908904", "url": "https://glygen.org/publication/PubMed/10908904" } ] }, { "title": "Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.", "journal": "Annals of neurology", "date": "2000", "authors": "Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "10939567", "url": "https://glygen.org/publication/PubMed/10939567" } ] }, { "title": "Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.", "journal": "American journal of medical genetics", "date": "2001", "authors": "Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11503164", "url": "https://glygen.org/publication/PubMed/11503164" } ] }, { "title": "A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.", "journal": "Neuromuscular disorders : NMD", "date": "2001", "authors": "Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11525883", "url": "https://glygen.org/publication/PubMed/11525883" } ] }, { "title": "Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.", "journal": "Journal of cardiac failure", "date": "2001", "authors": "Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11561226", "url": "https://glygen.org/publication/PubMed/11561226" } ] }, { "title": "Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.", "journal": "Journal of cell science", "date": "2001", "authors": "Ostlund C, Bonne G, Schwartz K, Worman HJ", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11792809", "url": "https://glygen.org/publication/PubMed/11792809" } ] }, { "title": "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.", "journal": "American journal of human genetics", "date": "2002", "authors": "De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11799477", "url": "https://glygen.org/publication/PubMed/11799477" } ] }, { "title": "Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.", "journal": "Journal of the American College of Cardiology", "date": "2002", "authors": "Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11897440", "url": "https://glygen.org/publication/PubMed/11897440" } ] }, { "title": "Structure of the globular tail of nuclear lamin.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Dhe-Paganon Sirano, Werner Eric D, Chi Young-In, Shoelson Steven E", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "11901143", "url": "https://glygen.org/publication/PubMed/11901143" } ] }, { "title": "Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.", "journal": "The American journal of medicine", "date": "2002", "authors": "Garg A, Speckman RA, Bowcock AM", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12015247", "url": "https://glygen.org/publication/PubMed/12015247" } ] }, { "title": "Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.", "journal": "Journal of human genetics", "date": "2002", "authors": "Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12032588", "url": "https://glygen.org/publication/PubMed/12032588" } ] }, { "title": "The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.", "journal": "Structure", "date": "2002", "authors": "Krimm Isabelle, Ostlund Cecilia, Gilquin Bernard, Couprie Jo\u00ebl, Hossenlopp Paul, Mornon Jean-Paul, Bonne Gis\u00e8le, Courvalin Jean-Claude, Worman Howard J, Zinn-Justin Sophie", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12057196", "url": "https://glygen.org/publication/PubMed/12057196" } ] }, { "title": "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.", "journal": "American journal of human genetics", "date": "2002", "authors": "Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12075506", "url": "https://glygen.org/publication/PubMed/12075506" } ] }, { "title": "Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.", "journal": "Neurology", "date": "2002", "authors": "van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12196663", "url": "https://glygen.org/publication/PubMed/12196663" } ] }, { "title": "Functional analysis of human P5, a protein disulfide isomerase homologue.", "journal": "Journal of biochemistry", "date": "2002", "authors": "Kikuchi M, Doi E, Tsujimoto I, Horibe T, Tsujimoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "12204115", "url": "https://glygen.org/publication/PubMed/12204115" } ] }, { "title": "Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.", "journal": "Neuromuscular disorders : NMD", "date": "2002", "authors": "Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12467752", "url": "https://glygen.org/publication/PubMed/12467752" } ] }, { "title": "Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.", "journal": "Mol. Biol. Cell", "date": "2002", "authors": "Markiewicz Ewa, Dechat Thomas, Foisner Roland, Quinlan Roy A, Hutchison Christopher J", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12475961", "url": "https://glygen.org/publication/PubMed/12475961" } ] }, { "title": "A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.", "journal": "American heart journal", "date": "2002", "authors": "Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12486434", "url": "https://glygen.org/publication/PubMed/12486434" } ] }, { "title": "Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.", "journal": "Journal of the American College of Cardiology", "date": "2003", "authors": "Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12628721", "url": "https://glygen.org/publication/PubMed/12628721" } ] }, { "title": "A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12629077", "url": "https://glygen.org/publication/PubMed/12629077" } ] }, { "title": "Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.", "journal": "Stroke", "date": "2003", "authors": "Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12649505", "url": "https://glygen.org/publication/PubMed/12649505" } ] }, { "title": "Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.", "journal": "Human mutation", "date": "2003", "authors": "Charniot JC, Pascal C, Bouchier C, Sebillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12673789", "url": "https://glygen.org/publication/PubMed/12673789" } ] }, { "title": "Lamin a truncation in Hutchinson-Gilford progeria.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N", "evidence": [ { "database": "RefSeq", "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" } ], "reference": [ { "type": "PubMed", "id": "12702809", "url": "https://glygen.org/publication/PubMed/12702809" } ] }, { "title": "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.", "journal": "Nature", "date": "2003", "authors": "Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12714972", "url": "https://glygen.org/publication/PubMed/12714972" } ] }, { "title": "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).", "journal": "Journal of human genetics", "date": "2003", "authors": "Cao H, Hegele RA", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12768443", "url": "https://glygen.org/publication/PubMed/12768443" } ] }, { "title": "Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Sebillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaiche A, Charniot JC, Schwartz K, Villard E, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12920062", "url": "https://glygen.org/publication/PubMed/12920062" } ] }, { "title": "LMNA mutations in atypical Werner's syndrome.", "journal": "Lancet (London, England)", "date": "2003", "authors": "Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "12927431", "url": "https://glygen.org/publication/PubMed/12927431" } ] }, { "title": "Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.", "journal": "European journal of heart failure", "date": "2003", "authors": "Forissier JF, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Wisnewski C, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "14675861", "url": "https://glygen.org/publication/PubMed/14675861" } ] }, { "title": "Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "14684700", "url": "https://glygen.org/publication/PubMed/14684700" } ] }, { "title": "A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "14985400", "url": "https://glygen.org/publication/PubMed/14985400" } ] }, { "title": "Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15060110", "url": "https://glygen.org/publication/PubMed/15060110" } ] }, { "title": "A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.", "journal": "European heart journal", "date": "2004", "authors": "Karkkainen S, Helio T, Miettinen R, Tuomainen P, Peltola P, Rummukainen J, Ylitalo K, Kaartinen M, Kuusisto J, Toivonen L, Nieminen MS, Laakso M, Peuhkurinen K", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15140538", "url": "https://glygen.org/publication/PubMed/15140538" } ] }, { "title": "Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.", "journal": "The American journal of cardiology", "date": "2004", "authors": "Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15219508", "url": "https://glygen.org/publication/PubMed/15219508" } ] }, { "title": "Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15286156", "url": "https://glygen.org/publication/PubMed/15286156" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.", "journal": "Human molecular genetics", "date": "2004", "authors": "Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15317753", "url": "https://glygen.org/publication/PubMed/15317753" } ] }, { "title": "Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.", "journal": "Muscle & nerve", "date": "2004", "authors": "Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15372542", "url": "https://glygen.org/publication/PubMed/15372542" } ] }, { "title": "A role for the thiol isomerase protein ERP5 in platelet function.", "journal": "Blood", "date": "2005", "authors": "Jordan PA, Stevens JM, Hubbard GP, Barrett NE, Sage T, Authi KS, Gibbins JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "15466936", "url": "https://glygen.org/publication/PubMed/15466936" } ] }, { "title": "Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins.", "journal": "J. Mol. Biol.", "date": "2004", "authors": "Strelkov Sergei V, Schumacher Jens, Burkhard Peter, Aebi Ueli, Herrmann Harald", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15476822", "url": "https://glygen.org/publication/PubMed/15476822" } ] }, { "title": "Mitogen-activated protein kinases phosphorylate nuclear lamins and display sequence specificity overlapping that of mitotic protein kinase p34cdc2.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Peter M, Sanghera JS, Pelech SL, Nigg EA", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "1555589", "url": "https://glygen.org/publication/PubMed/1555589" } ] }, { "title": "p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.", "journal": "Annals of neurology", "date": "2005", "authors": "Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15622532", "url": "https://glygen.org/publication/PubMed/15622532" } ] }, { "title": "Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "15630448", "url": "https://glygen.org/publication/PubMed/15630448" } ] }, { "title": "Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Cenni V, Sabatelli P, Mattioli E, Marmiroli S, Capanni C, Ognibene A, Squarzoni S, Maraldi NM, Bonne G, Columbaro M, Merlini L, Lattanzi G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15744034", "url": "https://glygen.org/publication/PubMed/15744034" } ] }, { "title": "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "15998779", "url": "https://glygen.org/publication/PubMed/15998779" } ] }, { "title": "In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.", "journal": "Journal of medical genetics", "date": "2005", "authors": "Sylvius N, Bilinska ZT, Veinot JP, Fidzianska A, Bolongo PM, Poon S, McKeown P, Davies RA, Chan KL, Tang AS, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "16061563", "url": "https://glygen.org/publication/PubMed/16061563" } ] }, { "title": "Global phosphoproteome of HT-29 human colon adenocarcinoma cells.", "journal": "Journal of proteome research", "date": "2005", "authors": "Kim JE, Tannenbaum SR, White FM", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ] }, { "title": "Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.", "journal": "Human genetics", "date": "2005", "authors": "Arbustini Eloisa AE, Pilotto A, Pasotti M, Grasso M, Diegoli M, Campana C, Gavazzi A, Alessandra R, Tavazzi L", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "16156025", "url": "https://glygen.org/publication/PubMed/16156025" } ] }, { "title": "A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "16278265", "url": "https://glygen.org/publication/PubMed/16278265" } ] }, { "title": "LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins.", "journal": "J. Cell Sci.", "date": "2005", "authors": "Brachner A, Reipert S, Foisner R, Gotzmann J", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "16339967", "url": "https://glygen.org/publication/PubMed/16339967" } ] }, { "title": "pXBP1(U) encoded in XBP1 pre-mRNA negatively regulates unfolded protein response activator pXBP1(S) in mammalian ER stress response.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Yoshida H, Oku M, Suzuki M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16461360", "url": "https://glygen.org/publication/PubMed/16461360" } ] }, { "title": "XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Kakiuchi C, Ishiwata M, Hayashi A, Kato T", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16539657", "url": "https://glygen.org/publication/PubMed/16539657" } ] }, { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "title": "Lamin A-dependent nuclear defects in human aging.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Scaffidi P, Misteli T", "evidence": [ { "database": "RefSeq", "id": "NP_001244303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244303" } ], "reference": [ { "type": "PubMed", "id": "16645051", "url": "https://glygen.org/publication/PubMed/16645051" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.", "journal": "Neurogenetics", "date": "2007", "authors": "Rudnik-Schoneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schroder R, Wehnert M, Wirth B, Zerres K", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "17136397", "url": "https://glygen.org/publication/PubMed/17136397" } ] }, { "title": "Collagen expression in fibroblasts with a novel LMNA mutation.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Nguyen D, Leistritz DF, Turner L, MacGregor D, Ohson K, Dancey P, Martin GM, Oshima J", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "17150192", "url": "https://glygen.org/publication/PubMed/17150192" } ] }, { "title": "Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).", "journal": "Clinical genetics", "date": "2007", "authors": "Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "17250669", "url": "https://glygen.org/publication/PubMed/17250669" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2007", "authors": "Decaudain A, Vantyghem MC, Guerci B, Hecart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbe C, Bereziat V, Capeau J, Lascols O, Vigouroux C", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "17711925", "url": "https://glygen.org/publication/PubMed/17711925" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "De novo LMNA mutations cause a new form of congenital muscular dystrophy.", "journal": "Annals of neurology", "date": "2008", "authors": "Quijano-Roy S, Mbieleu B, Bonnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "18551513", "url": "https://glygen.org/publication/PubMed/18551513" } ] }, { "title": "Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Zhang YQ, Sarge KD", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "18606848", "url": "https://glygen.org/publication/PubMed/18606848" } ] }, { "title": "Heart-hand syndrome of Slovenian type: a new kind of laminopathy.", "journal": "Journal of medical genetics", "date": "2008-10", "authors": "Renou L, Stora S, Yaou R Ben, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "18611980", "url": "https://glygen.org/publication/PubMed/18611980" } ] }, { "title": "Human HRD1 promoter carries a functional unfolded protein response element to which XBP1 but not ATF6 directly binds.", "journal": "Journal of biochemistry", "date": "2008", "authors": "Yamamoto K, Suzuki N, Wada T, Okada T, Yoshida H, Kaufman RJ, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "18664523", "url": "https://glygen.org/publication/PubMed/18664523" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cenni V, Bertacchini J, Beretti F, Lattanzi G, Bavelloni A, Riccio M, Ruzzene M, Marin O, Arrigoni G, Parnaik V, Wehnert M, Maraldi NM, de Pol A, Cocco L, Marmiroli S", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "18808171", "url": "https://glygen.org/publication/PubMed/18808171" } ] }, { "title": "Epstein-Barr virus BGLF4 kinase induces disassembly of the nuclear lamina to facilitate virion production.", "journal": "Journal of virology", "date": "2008", "authors": "Lee CP, Huang YH, Lin SF, Chang Y, Chang YH, Takada K, Chen MR", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "18815303", "url": "https://glygen.org/publication/PubMed/18815303" } ] }, { "title": "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.", "journal": "Cancer research", "date": "2008", "authors": "Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "18974108", "url": "https://glygen.org/publication/PubMed/18974108" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Viral mimicry of Cdc2/cyclin-dependent kinase 1 mediates disruption of nuclear lamina during human cytomegalovirus nuclear egress.", "journal": "PLoS pathogens", "date": "2009", "authors": "Hamirally S, Kamil JP, Ndassa-Colday YM, Lin AJ, Jahng WJ, Baek MC, Noton S, Silva LA, Simpson-Holley M, Knipe DM, Golan DE, Marto JA, Coen DM", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "19165338", "url": "https://glygen.org/publication/PubMed/19165338" } ] }, { "title": "Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.", "journal": "International journal of cardiology", "date": "2010", "authors": "Saj M, Jankowska A, Lewandowski M, Szwed H, Szperl M, Ploski R, Bilinska ZT", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19167105", "url": "https://glygen.org/publication/PubMed/19167105" } ] }, { "title": "The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.", "journal": "Journal of cellular and molecular medicine", "date": "2009", "authors": "Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briede JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19220582", "url": "https://glygen.org/publication/PubMed/19220582" } ] }, { "title": "Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.", "journal": "American journal of medical genetics. Part A", "date": "2009", "authors": "McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19283854", "url": "https://glygen.org/publication/PubMed/19283854" } ] }, { "title": "Emerin-prelamin A interplay in human fibroblasts.", "journal": "Biol. Cell", "date": "2009", "authors": "Capanni Cristina, Del Coco Rosalba, Mattioli Elisabetta, Camozzi Daria, Columbaro Marta, Schena Elisa, Merlini Luciano, Squarzoni Stefano, Maraldi Nadir Mario, Lattanzi Giovanna", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19323649", "url": "https://glygen.org/publication/PubMed/19323649" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.", "journal": "The American journal of cardiology", "date": "2009", "authors": "Brauch KM, Chen LY, Olson TM", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19427440", "url": "https://glygen.org/publication/PubMed/19427440" } ] }, { "title": "Quantitative analysis of phosphopeptides in search of the disease biomarker from the hepatocellular carcinoma specimen.", "journal": "Proteomics", "date": "2009", "authors": "Lee HJ, Na K, Kwon MS, Kim H, Kim KS, Paik YK", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Haque F, Mazzeo D, Patel JT, Smallwood DT, Ellis JA, Shanahan CM, Shackleton S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "19933576", "url": "https://glygen.org/publication/PubMed/19933576" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": 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Biophys. Acta", "date": "2010", "authors": "De Vos Winnok H, Houben Frederik, Hoebe Ron A, Hennekam Raoul, van Engelen Baziel, Manders Erik M M, Ramaekers Frans C S, Broers Jos L V, Van Oostveldt Patrick", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "20079404", "url": "https://glygen.org/publication/PubMed/20079404" } ] }, { "title": "Simian virus 40 T/t antigens and lamin A/C small interfering RNA rescue the phenotype of an Epstein-Barr virus protein kinase (BGLF4) mutant.", "journal": "Journal of virology", "date": "2010", "authors": "Meng Q, Hagemeier SR, Kuny CV, Kalejta RF, Kenney SC", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "20147387", "url": "https://glygen.org/publication/PubMed/20147387" } ] }, { "title": "Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.", "journal": "Circulation. Cardiovascular genetics", "date": "2010", "authors": "Cowan J, Li D, Gonzalez-Quintana J, Morales A, Hershberger RE", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "20160190", "url": "https://glygen.org/publication/PubMed/20160190" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.", "journal": "Circulation", "date": "2010", "authors": "Ragnauth CD, Warren DT, Liu Y, McNair R, Tajsic T, Figg N, Shroff R, Skepper J, Shanahan CM", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "20458013", "url": "https://glygen.org/publication/PubMed/20458013" } ] }, { "title": "Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma.", "journal": "Nature medicine", "date": "2010", "authors": "Palanisamy N, Ateeq B, Kalyana-Sundaram S, Pflueger D, Ramnarayanan K, Shankar S, Han B, Cao Q, Cao X, Suleman K, Kumar-Sinha C, Dhanasekaran SM, Chen YB, Esgueva R, Banerjee S, LaFargue CJ, Siddiqui J, Demichelis F, Moeller P, Bismar TA, Kuefer R, Fullen DR, Johnson TM, Greenson JK, Giordano TJ, Tan P, Tomlins SA, Varambally S, Rubin MA, Maher CA, Chinnaiyan AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "20526349", "url": "https://glygen.org/publication/PubMed/20526349" } ] }, { "title": "Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.", "journal": "Human mutation", "date": "2011", "authors": "Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "20848652", "url": "https://glygen.org/publication/PubMed/20848652" } ] }, { "title": "Role of miR-204 in the regulation of apoptosis, endoplasmic reticulum stress response, and inflammation in human trabecular meshwork cells.", "journal": "Investigative ophthalmology & visual science", "date": "2011", "authors": "Li G, Luna C, Qiu J, Epstein DL, Gonzalez P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "21282569", "url": "https://glygen.org/publication/PubMed/21282569" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.", "journal": "Acta neuropathologica", "date": "2011", "authors": "Cin H, Meyer C, Herr R, Janzarik WG, Lambert S, Jones DT, Jacob K, Benner A, Witt H, Remke M, Bender S, Falkenstein F, Van Anh TN, Olbrich H, von Deimling A, Pekrun A, Kulozik AE, Gnekow A, Scheurlen W, Witt O, Omran H, Jabado N, Collins VP, Brummer T, Marschalek R, Lichter P, Korshunov A, Pfister SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "21424530", "url": "https://glygen.org/publication/PubMed/21424530" } ] }, { "title": "Identification of a novel muscle enriched A-type Lamin interacting protein (MLIP).", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Ahmady E, Deeke SA, Rabaa S, Kouri L, Kenney L, Stewart AF, Burgon PG", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "21498514", "url": "https://glygen.org/publication/PubMed/21498514" } ] }, { "title": "High prevalence of laminopathies among patients with metabolic syndrome.", "journal": "Human molecular genetics", "date": "2011", "authors": "Dutour A, Roll P, Gaborit B, Courrier S, Alessi MC, Tregouet DA, Angelis F, Robaglia-Schlupp A, Lesavre N, Cau P, Levy N, Badens C, Morange PE", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "21724554", "url": "https://glygen.org/publication/PubMed/21724554" } ] }, { "title": "LMNA mutation in progeroid syndrome in association with strokes.", "journal": "European journal of medical genetics", "date": "2011", "authors": "Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M, Gallano P", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "21791255", "url": "https://glygen.org/publication/PubMed/21791255" } ] }, { "title": "Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.", "journal": "European journal of medical genetics", "date": "2011", "authors": "Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "21846512", "url": "https://glygen.org/publication/PubMed/21846512" } ] }, { "title": "Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Harmon EB, Harmon ML, Larsen TD, Yang J, Glasford JW, Perryman MB", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "21949239", "url": "https://glygen.org/publication/PubMed/21949239" } ] }, { "title": "Large-scale discovery of ERK2 substrates identifies ERK-mediated transcriptional regulation by ETV3.", "journal": "Science signaling", "date": "2011", "authors": "Carlson SM, Chouinard CR, Labadorf A, Lam CJ, Schmelzle K, Fraenkel E, White FM", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "22028470", "url": "https://glygen.org/publication/PubMed/22028470" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.", "journal": "PloS one", "date": "2012", "authors": "Barrowman J, Hamblet C, Kane MS, Michaelis S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "title": "Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes.", "journal": "Human molecular genetics", "date": "2012", "authors": "Adhikari D, Zheng W, Shen Y, Gorre N, Ning Y, Halet G, Kaldis P, Liu K", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "22367880", "url": "https://glygen.org/publication/PubMed/22367880" } ] }, { "title": "Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.", "journal": "Muscle & nerve", "date": "2012", "authors": "Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "22431096", "url": "https://glygen.org/publication/PubMed/22431096" } ] }, { "title": "Discovery of O-GlcNAc-modified proteins in published large-scale proteome data.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Hahne H, Gholami AM, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "22661428", "url": "https://glygen.org/publication/PubMed/22661428" } ] }, { "title": "A novel SND1-BRAF fusion confers resistance to c-Met inhibitor PF-04217903 in GTL16 cells through [corrected] MAPK activation.", "journal": "PloS one", "date": "2012", "authors": "Lee NV, Lira ME, Pavlicek A, Ye J, Buckman D, Bagrodia S, Srinivasa SP, Zhao Y, Aparicio S, Rejto PA, Christensen JG, Ching KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "22745804", "url": "https://glygen.org/publication/PubMed/22745804" } ] }, { "title": "Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Drougat L, Olivier-Van Stichelen S, Mortuaire M, Foulquier F, Lacoste AS, Michalski JC, Lefebvre T, Vercoutter-Edouart AS", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "22967762", "url": "https://glygen.org/publication/PubMed/22967762" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "23271734", "url": "https://glygen.org/publication/PubMed/23271734" } ] }, { "title": "Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis.", "journal": "Cell", "date": "1990", "authors": "Heald R, McKeon F", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "2344612", "url": "https://glygen.org/publication/PubMed/2344612" } ] }, { "title": "Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.", "journal": "Nature genetics", "date": "2013", "authors": "Zhang J, Wu G, Miller CP, Tatevossian RG, Dalton JD, Tang B, Orisme W, Punchihewa C, Parker M, Qaddoumi I, Boop FA, Lu C, Kandoth C, Ding L, Lee R, Huether R, Chen X, Hedlund E, Nagahawatte P, Rusch M, Boggs K, Cheng J, Becksfort J, Ma J, Song G, Li Y, Wei L, Wang J, Shurtleff S, Easton J, Zhao D, Fulton RS, Fulton LL, Dooling DJ, Vadodaria B, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "23583981", "url": "https://glygen.org/publication/PubMed/23583981" } ] }, { "title": "LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.", "journal": "American journal of medical genetics. Part A", "date": "2013", "authors": "Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "23666920", "url": "https://glygen.org/publication/PubMed/23666920" } ] }, { "title": "Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.", "journal": "Nat. Commun.", "date": "2013", "authors": "Liu Baohua, Wang Zimei, Zhang Le, Ghosh Shrestha, Zheng Huiling, Zhou Zhongjun", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "23695662", "url": "https://glygen.org/publication/PubMed/23695662" } ] }, { "title": "Identification of the lamin A/C phosphoepitope recognized by the antibody P-STM in mitotic HeLa S3 cells.", "journal": "BMC biochemistry", "date": "2013", "authors": "Chen JT, Ho CW, Chi LM, Chien KY, Hsieh YJ, Lin SJ, Yu JS", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "23870088", "url": "https://glygen.org/publication/PubMed/23870088" } ] }, { "title": "Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.", "journal": "PloS one", "date": "2013", "authors": "Yang L, Munck M, Swaminathan K, Kapinos LE, Noegel AA, Neumann S", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "23977161", "url": "https://glygen.org/publication/PubMed/23977161" } ] }, { "title": "Identification of kinase fusion oncogenes in post-Chernobyl radiation-induced thyroid cancers.", "journal": "The Journal of clinical investigation", "date": "2013", "authors": "Ricarte-Filho JC, Li S, Garcia-Rendueles ME, Montero-Conde C, Voza F, Knauf JA, Heguy A, Viale A, Bogdanova T, Thomas GA, Mason CE, Fagin JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "24135138", "url": "https://glygen.org/publication/PubMed/24135138" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2013", "authors": "Hutchinson KE, Lipson D, Stephens PJ, Otto G, Lehmann BD, Lyle PL, Vnencak-Jones CL, Ross JS, Pietenpol JA, Sosman JA, Puzanov I, Miller VA, Pao W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "24345920", "url": "https://glygen.org/publication/PubMed/24345920" } ] }, { "title": "LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.", "journal": "Diabetes & metabolism", "date": "2014", "authors": "Chirico V, Ferrau V, Loddo I, Briuglia S, Amorini M, Salpietro V, Lacquaniti A, Salpietro C, Arrigo T", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "24485160", "url": "https://glygen.org/publication/PubMed/24485160" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "Q5TCI8", "url": "https://www.uniprot.org/uniprot/Q5TCI8" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "The landscape of kinase fusions in cancer.", "journal": "Nature communications", "date": "2014", "authors": "Stransky N, Cerami E, Schalm S, Kim JL, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25204415", "url": "https://glygen.org/publication/PubMed/25204415" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "Q5TCI8", "url": "https://www.uniprot.org/uniprot/Q5TCI8" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "The human embryonic stem cell proteome revealed by multidimensional fractionation followed by tandem mass spectrometry.", "journal": "Proteomics", "date": "2015", "authors": "Zhao P, Schulz TC, Sherrer ES, Weatherly DB, Robins AJ, Wells L", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "25367160", "url": "https://glygen.org/publication/PubMed/25367160" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. Cell. Proteomics", "date": "2015", "authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "Q5TCI8", "url": "https://www.uniprot.org/uniprot/Q5TCI8" } ], "reference": [ { "type": "PubMed", "id": "25755297", "url": "https://glygen.org/publication/PubMed/25755297" } ] }, { "title": "SUMO-2 orchestrates chromatin modifiers in response to DNA damage.", "journal": "Cell Rep.", "date": "2015", "authors": "Hendriks Ivo A, Treffers Louise W, Verlaan-de Vries Matty, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "Q5TCI8", "url": "https://www.uniprot.org/uniprot/Q5TCI8" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "Regulation of RAF protein kinases in ERK signalling.", "journal": "Nature reviews. Molecular cell biology", "date": "2015", "authors": "Lavoie H, Therrien M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25907612", "url": "https://glygen.org/publication/PubMed/25907612" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.", "journal": "Clinical genetics", "date": "2017", "authors": "Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "27234031", "url": "https://glygen.org/publication/PubMed/27234031" } ] }, { "title": "The Prolyl Isomerase Pin1 Promotes the Herpesvirus-Induced Phosphorylation-Dependent Disassembly of the Nuclear Lamina Required for Nucleocytoplasmic Egress.", "journal": "PLoS pathogens", "date": "2016-08", "authors": "Milbradt Jens, Hutterer Corina, Bahsi Hanife, Wagner Sabrina, Sonntag Eric, Horn Anselm H C, Kaufer Benedikt B, Mori Yasuko, Sticht Heinrich, Fossen Torgils, Marschall Manfred", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "27556400", "url": "https://glygen.org/publication/PubMed/27556400" } ] }, { "title": "Global Analysis of O-GlcNAc Glycoproteins in Activated Human T Cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2016", "authors": "Lund PJ, Elias JE, Davis MM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "27655845", "url": "https://glygen.org/publication/PubMed/27655845" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A mutant O-GlcNAcase enriches Drosophila developmental regulators.", "journal": "Nature chemical biology", "date": "2017", "authors": "Selvan N, Williamson R, Mariappa D, Campbell DG, Gourlay R, Ferenbach AT, Aristotelous T, Hopkins-Navratilova I, Trost M, van Aalten DMF", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "28604694", "url": "https://glygen.org/publication/PubMed/28604694" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Human Cytomegalovirus Nuclear Capsids Associate with the Core Nuclear Egress Complex and the Viral Protein Kinase pUL97.", "journal": "Viruses", "date": "2018", "authors": "Milbradt J, Sonntag E, Wagner S, Strojan H, Wangen C, Lenac Rovis T, Lisnic B, Jonjic S, Sticht H, Britt WJ, Schlotzer-Schrehardt U, Marschall M", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "29342872", "url": "https://glygen.org/publication/PubMed/29342872" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Intersectin goes nuclear: secret life of an endocytic protein.", "journal": "Biochem. J.", "date": "2018", "authors": "Alvisi Gualtiero, Paolini Lucia, Contarini Andrea, Zambarda Chiara, Di Antonio Veronica, Colosini Antonella, Mercandelli Nicole, Timmoneri Martina, Pal\u00f9 Giorgio, Caimi Luigi, Ricotta Doris, Radeghieri Annalisa", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "29599122", "url": "https://glygen.org/publication/PubMed/29599122" } ] }, { "title": "OGT (O-GlcNAc Transferase) Selectively Modifies Multiple Residues Unique to Lamin A.", "journal": "Cells", "date": "2018", "authors": "Simon DN, Wriston A, Fan Q, Shabanowitz J, Florwick A, Dharmaraj T, Peterson SB, Gruenbaum Y, Carlson CR, Gronning-Wang LM, Hunt DF, Wilson KL", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "29772801", "url": "https://glygen.org/publication/PubMed/29772801" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "Nuclear Nestin deficiency drives tumor senescence via lamin A/C-dependent nuclear deformation.", "journal": "Nature communications", "date": "2018", "authors": "Zhang Y, Wang J, Huang W, Cai J, Ba J, Wang Y, Ke Q, Huang Y, Liu X, Qiu Y, Lu Q, Sui X, Shi Y, Wang T, Shen H, Guan Y, Zhou Y, Chen Y, Wang M, Xiang AP", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "30190500", "url": "https://glygen.org/publication/PubMed/30190500" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.", "journal": "Open heart", "date": "2018", "authors": "Captur G, Arbustini E, Syrris P, Radenkovic D, O'Brien B, Mckenna WJ, Moon JC", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "30402260", "url": "https://glygen.org/publication/PubMed/30402260" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "30444036", "url": "https://glygen.org/publication/PubMed/30444036" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "The nucleoskeleton protein IFFO1 immobilizes broken DNA and suppresses chromosome translocation during tumorigenesis.", "journal": "Nature cell biology", "date": "2019", "authors": "Li W, Bai X, Li J, Zhao Y, Liu J, Zhao H, Liu L, Ding M, Wang Q, Shi FY, Hou M, Ji J, Gao G, Guo R, Sun Y, Liu Y, Xu D", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Tandem Bioorthogonal Labeling Uncovers Endogenous Cotranslationally O-GlcNAc Modified Nascent Proteins.", "journal": "Journal of the American Chemical Society", "date": "2020", "authors": "Zhu Y, Willems LI, Salas D, Cecioni S, Wu WB, Foster LJ, Vocadlo DJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Differential involvement of caspase-6 in amyloid-\u03b2-induced fragmentation of lamin A and B.", "journal": "Biochemistry and biophysics reports", "date": "2020-12", "authors": "Islam Md Imamul, Hossain Md Selim, Park Il-Seon", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "33145443", "url": "https://glygen.org/publication/PubMed/33145443" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "Integrative Proteomic and Phosphoproteomic Analyses of Granulosa Cells During Follicular Atresia in Porcine.", "journal": "Frontiers in cell and developmental biology", "date": "2020", "authors": "Yang Feng, Liu Qiang, Chen Yanhong, Ye Huizhen, Wang Han, Zeng Shenming", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "33520998", "url": "https://glygen.org/publication/PubMed/33520998" } ] }, { "title": "LAP2alpha maintains a mobile and low assembly state of A-type lamins in the nuclear interior.", "journal": "eLife", "date": "2021-02-19", "authors": "Naetar Nana, Georgiou Konstantina, Knapp Christian, Bronshtein Irena, Zier Elisabeth, Fichtinger Petra, Dechat Thomas, Garini Yuval, Foisner Roland", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "33605210", "url": "https://glygen.org/publication/PubMed/33605210" } ] }, { "title": "Apico-basal cell compression regulates Lamin A/C levels in epithelial tissues.", "journal": "Nature communications", "date": "2021-03-25", "authors": "Iyer K Venkatesan, Taubenberger Anna, Zeidan Salma Ahmed, Dye Natalie A, Eaton Suzanne, J\u00fclicher Frank", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "33767161", "url": "https://glygen.org/publication/PubMed/33767161" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Oxonium Ion Guided Analysis of Quantitative Proteomics Data Reveals Site-Specific O-Glycosylation of Anterior Gradient Protein 2 (AGR2).", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Pirro M, Mohammed Y, de Ru AH, Janssen GMC, Tjokrodirijo RTN, Madunic K, Wuhrer M, van Veelen PA, Hensbergen PJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34065225", "url": "https://glygen.org/publication/PubMed/34065225" } ] }, { "title": "Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.", "journal": "Nature", "date": "1986", "authors": "McKeon F D, Kirschner M W, Caput D", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "3453101", "url": "https://glygen.org/publication/PubMed/3453101" } ] }, { "title": "cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Fisher D Z, Chaudhary N, Blobel G", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "3462705", "url": "https://glygen.org/publication/PubMed/3462705" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": "Analytical chemistry", "date": "2021", "authors": "Chen Y, Qin H, Yue X, Zhou J, Liu L, Nie Y, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" }, { "database": "O-GlcNAc Atlas", "id": "P02545", "url": "https://oglcnac.org/atlas/detail/P02545" } ], "reference": [ { "type": "PubMed", "id": "34846842", "url": "https://glygen.org/publication/PubMed/34846842" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02545", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02545" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Cloning and sequencing of the cDNA encoding human P5.", "journal": "Gene", "date": "1995", "authors": "Hayano T, Kikuchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "7590364", "url": "https://glygen.org/publication/PubMed/7590364" } ] }, { "title": "Critical phosphorylation sites for acetyl-CoA carboxylase activity.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ha J, Daniel S, Broyles SS, Kim KH", "evidence": [ { "database": "iPTMnet", "id": "P02545", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545" } ], "reference": [ { "type": "PubMed", "id": "7915280", "url": "https://glygen.org/publication/PubMed/7915280" } ] }, { "title": "Functional analysis of phosphorylation sites in human lamin A controlling lamin disassembly, nuclear transport and assembly.", "journal": "European journal of cell biology", "date": "1993", "authors": "Haas M, Jost E", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "7925482", "url": "https://glygen.org/publication/PubMed/7925482" } ] }, { "title": "The processing pathway of prelamin A.", "journal": "Journal of cell science", "date": "1994", "authors": "Sinensky M, Fantle K, Trujillo M, McLain T, Kupfer A, Dalton M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "8175923", "url": "https://glygen.org/publication/PubMed/8175923" } ] }, { "title": "Identification of novel phosphorylation sites in murine A-type lamins.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Eggert M, Radomski N, Linder D, Tripier D, Traub P, Jost E", "evidence": [ { "database": "iPTMnet", "id": "P02545-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02545-1" } ], "reference": [ { "type": "PubMed", "id": "8477740", "url": "https://glygen.org/publication/PubMed/8477740" } ] }, { "title": "An alternative splicing product of the lamin A/C gene lacks exon 10.", "journal": "J. Biol. Chem.", "date": "1996", "authors": "Machiels B M, Zorenc A H, Endert J M, Kuijpers H J, van Eys G J, Ramaekers F C, Broers J L", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "8621584", "url": "https://glygen.org/publication/PubMed/8621584" } ] }, { "title": "Cloning, expression, and cellular localization of the oncogenic 58-kDa inhibitor of the RNA-activated human and mouse protein kinase.", "journal": "Gene", "date": "1996", "authors": "Korth MJ, Lyons CN, Wambach M, Katze MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "8666242", "url": "https://glygen.org/publication/PubMed/8666242" } ] }, { "title": "In vitro assay and characterization of the farnesylation-dependent prelamin A endoprotease.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kilic F, Dalton MB, Burrell SK, Mayer JP, Patterson SD, Sinensky M", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "reference": [ { "type": "PubMed", "id": "9030603", "url": "https://glygen.org/publication/PubMed/9030603" } ] }, { "title": "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.", "journal": "Genome research", "date": "1997", "authors": "Wise CA, Clines GA, Massa H, Trask BJ, Lovett M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9037597", "url": "https://glygen.org/publication/PubMed/9037597" } ] }, { "title": "Identification and characterization of a novel member of the EXT gene family, EXTL2.", "journal": "European journal of human genetics : EJHG", "date": "1997", "authors": "Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9450183", "url": "https://glygen.org/publication/PubMed/9450183" } ] }, { "title": "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9473480", "url": "https://glygen.org/publication/PubMed/9473480" } ] } ], "pathway": [ { "id": "hsa:4000", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4000", "resource": "KEGG Pathway" }, { "id": "R-HSA-381038", "name": "XBP1(S) activates chaperone genes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038", "resource": "Reactome", "description": "XBP1(S) activates chaperone genes" }, { "id": "R-HSA-6802952", "name": "Signaling by BRAF and RAF1 fusions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "resource": "Reactome", "description": "Signaling by BRAF and RAF1 fusions" } ], "orthologs": [ { "uniprot_canonical_ac": "P48678-1", "protein_name": "Prelamin-A/C", "gene_name": "Lmna", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"Lmna", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "METPSQRRPTRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLLAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTLKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQSQGGGSVTKKRKLESSESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLMTYRFPPKFTLKAGQVVTIWASGAGATHSPPTDLVWKAQNTWGCGTSLRTALINATGEEVAMRKLVRSLTMVEDNDDEEEDGDELLHHHRGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKAASGSGAQVGGSISSGSSASSVTVTRSFRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSSQNCSIM", "length": 665 }, "evidence": [ { "id": "45916646", "url": "http://www.informatics.jax.org/homology/45916646", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "lamin filament", "id": "GO:0005638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005638", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 24, "go_terms": [ { "name": "regulation of telomere maintenance", "id": "GO:0032204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032204", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "regulation of protein localization to nucleus", "id": "GO:1900180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900180", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "DNA double-strand break attachment to nuclear envelope", "id": "GO:1990683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990683", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 456, "end_pos": 458, "annotation": "n_glycosylation_sequon" }, { "start_pos": 532, "end_pos": 534, "annotation": "n_glycosylation_sequon" }, { "start_pos": 650, "end_pos": 652, "annotation": "n_glycosylation_sequon" }, { "start_pos": 660, "end_pos": 662, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Farnesylation of prelamin-A/C facilitates nuclear envelope targeting.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "15317753", "url": "https://glygen.org/publication/PubMed/15317753" }, { "database": "PubMed", "id": "22355414", "url": "https://glygen.org/publication/PubMed/22355414" } ] }, { "annotation": "Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations. Phosphorylation status of S-22 determines its localization between double-strand break (DSB) sites and the nuclear matrix (PubMed:31548606).", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "31548606", "url": "https://glygen.org/publication/PubMed/31548606" } ] }, { "annotation": "Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C (PubMed:20458013, PubMed:8175923, PubMed:9030603). The prelamin-A/C maturation pathway includes farnesylation of CAAX motif by protein farnesyltransferase (FNTA and FNTB), removal of the last three amino acids (-AAX) by RCE1/FACE2 and/or ZMPSTE24, methylation of the C-terminal cysteine by ICMT and endoproteolytic removal of the last 15 C-terminal amino acids by ZMPSTE24 (PubMed:20458013, PubMed:8175923, PubMed:9030603). Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage (PubMed:20458013, PubMed:8175923, PubMed:9030603).", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "9030603", "url": "https://glygen.org/publication/PubMed/9030603" }, { "database": "PubMed", "id": "20458013", "url": "https://glygen.org/publication/PubMed/20458013" }, { "database": "PubMed", "id": "8175923", "url": "https://glygen.org/publication/PubMed/8175923" } ] }, { "annotation": "Sumoylation is necessary for the localization to the nuclear envelope.", "evidence": [ { "database": "UniProtKB", "id": "P02545", "url": "https://www.uniprot.org/uniprot/P02545" }, { "database": "PubMed", "id": "18606848", "url": "https://glygen.org/publication/PubMed/18606848" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 18, 24, 27, 91, 268, 423, 424, 436, 437, 585, 590, 599, 601, 603, 612, 613, 615, 616, 618, 619, 621, 623, 628, 636, 643 ], "snv_sites": [ 24, 27, 41, 64, 91, 268, 283, 296, 301, 424, 429, 436, 437, 486, 520, 531, 566, 585, 590, 601, 612, 613, 615, 616, 619, 621, 623, 628, 643 ], "glycation_sites": [], "phosphorylation_sites": [ 3, 5, 10, 12, 17, 18, 19, 22, 24, 45, 51, 64, 66, 71, 94, 107, 199, 212, 224, 277, 282, 301, 307, 390, 392, 394, 395, 398, 403, 404, 406, 407, 409, 414, 416, 423, 424, 426, 428, 429, 431, 458, 463, 480, 496, 505, 510, 525, 533, 534, 546, 548, 568, 571, 612, 613, 615, 616, 618, 619, 625, 628, 632, 636, 643, 652 ], "sequon_annotation_sites": [ { "start_pos": 456, "end_pos": 458 }, { 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