{ "uniprot_canonical_ac": "A4D126-1", "uniprot_ac": "A4D126", "uniprot_id": "ISPD_HUMAN", "mass": { "chemical_mass": 49873.0, "monoisotopic_mass": 49873.0 }, "refseq": { "ac": "NP_001094887", "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "summary": "This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, "gene_names": [ { "name": "CRPPA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126" }, { "name": "CRPPA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" }, { "name": "ISPD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D126", "id": "A4D126" }, { "name": "hISPD; ISPD; LGMDR20; MDDGA7; MDDGC7; Nip", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" } ], "protein_names": [ { "name": "D-ribitol-5-phosphate cytidylyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A4D126" }, { "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D126" }, { "name": "2.7.7.40", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D126" }, { "name": "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; notch1-induced protein; 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; testicular tissue protein Li 97; D-ribitol-5-phosphate cytidylyltransferase; isoprenoid synthase domain containing", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" }, { "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "id": "NP_001094887" }, { "name": "Isoprenoid synthase domain-containing protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D126" }, { "name": "hISPD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D126" } ], "function": [ { "annotation": "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "31909476", "url": "https://glygen.org/publication/PubMed/31909476" } ] }, { "annotation": "Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126#function" }, { "database": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" }, { "database": "PubMed", "id": "26687144", "url": "https://glygen.org/publication/PubMed/26687144" }, { "database": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" }, { "database": "PubMed", "id": "27130732", "url": "https://glygen.org/publication/PubMed/27130732" }, { "database": "PubMed", "id": "27601598", "url": "https://glygen.org/publication/PubMed/27601598" }, { "database": "PubMed", "id": "26923585", "url": "https://glygen.org/publication/PubMed/26923585" } ] }, { "annotation": "Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "33290265", "url": "https://glygen.org/publication/PubMed/33290265" } ] }, { "annotation": "ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" } ] }, { "annotation": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" } ] }, { "annotation": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" } ] }, { "annotation": "TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" }, { "database": "PubMed", "id": "23217329", "url": "https://glygen.org/publication/PubMed/23217329" } ] }, { "annotation": "This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ] } ], "disease": [ { "disease_id": "DOID:0110295", "recommended_name": { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21." }, "synonyms": [ { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "LGMD2U", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "MDDGC7", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "DOID:0110295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110295", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy type 2U", "description": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "ISPD autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "LGMD2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "MDDGC7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy limb-girdle type 2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy, limb-girdle, type 2U", "description": "" }, { "id": "MONDO:0014474", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014474", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7", "description": "" }, { "id": "MIM:616052", "resource": "MIM", "url": "https://www.omim.org/entry/616052", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C7", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C7" } ], "evidence": [ { "id": "616052", "database": "MIM", "url": "https://www.omim.org/entry/616052" } ] }, { "disease_id": "DOID:0111234", "recommended_name": { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "congenital muscular dystrophy-dystroglycanopathy A7", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1." }, "synonyms": [ { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related", "description": "" }, { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7", "description": "" }, { "id": "DOID:0111234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111234", "name": "MDDGA7", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "ISPD muscular dystrophy-dystroglycanopathy, type A", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD", "description": "" }, { "id": "MONDO:0013835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835", "name": "MDDGA7", "description": "" }, { "id": "MIM:614643", "resource": "MIM", "url": "https://www.omim.org/entry/614643", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7" } ], "evidence": [ { "id": "0013835", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013835" }, { "id": "614643", "database": "MIM", "url": "https://www.omim.org/entry/614643" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.77", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "62.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "65.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "57.31", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "73.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "57.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214960", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214960" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "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 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "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", 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"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": "No", "trend": "down", "name": "Urinary bladder 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"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": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A4D126", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D126" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CRPPA", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRPPA", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "729920", "url": "https://www.ncbi.nlm.nih.gov/gene/729920", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "37276", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37276", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "A4D126", "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D126*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR018294", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018294", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029044", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029044", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034683", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034683", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040635", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040635", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:729920", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "614631", "url": "http://www.omim.org/entry/614631", "database": "MIM", "categories": [ "Other" ] }, { "id": "614643", "url": "http://www.omim.org/entry/614643", "database": "MIM", "categories": [ "Other" ] }, { "id": "616052", "url": "http://www.omim.org/entry/616052", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A4D126", "url": "https://www.nextprot.org/entry/NX_A4D126", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "LKEWNFI", "url": "https://omabrowser.org/oma/group/LKEWNFI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5405361at2759", "url": "http://www.orthodb.org/?query=5405361at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43015", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43015", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43015:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43015:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4CVH", "url": "https://www.rcsb.org/structure/4CVH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01128", "url": "http://pfam.xfam.org/family/PF01128", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18706", "url": "http://pfam.xfam.org/family/PF18706", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A4D126", "url": "https://pharos.nih.gov/targets/A4D126", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A4D126", "url": "http://purl.obolibrary.org/obo/PR_A4D126", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "12456", "url": "https://www.rhea-db.org/rhea/12456", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "53612", "url": "https://www.rhea-db.org/rhea/53612", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "53872", "url": "https://www.rhea-db.org/rhea/53872", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A6Q8PF75", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PF75-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PF75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG39", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PG39-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PG39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHI3", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PHI3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PHI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A4D126-1", "url": "https://www.uniprot.org/uniprot/A4D126-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A4D126-2", "url": "https://www.uniprot.org/uniprot/A4D126-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 451, "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF75-1", "url": "", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 315, "header": "tr|A0A6Q8PF75-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675257.1", "url": "https://www.ensembl.org/id/ENST00000675257.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501664.1", "url": "https://www.ensembl.org/id/ENSP00000501664.1" } ] } }, { "isoform_ac": "A0A6Q8PG39-1", "url": "", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 350, "header": "tr|A0A6Q8PG39-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676325.1", "url": "https://www.ensembl.org/id/ENST00000676325.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502074.1", "url": "https://www.ensembl.org/id/ENSP00000502074.1" } ] } }, { "isoform_ac": "A0A6Q8PHI3-1", "url": "", "sequence": { "sequence": "MEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVK", "length": 301, "header": "tr|A0A6Q8PHI3-1|ISPD_HUMAN Computationally mapped isoform of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=1 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16406291, "end_pos": 16216111, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674759.1", "url": "https://www.ensembl.org/id/ENST00000674759.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502749.1", "url": "https://www.ensembl.org/id/ENSP00000502749.1" } ] } }, { "isoform_ac": "A4D126-1", "url": "", "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 451, "header": "sp|A4D126-1|ISPD_HUMAN Isoform 1 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16421322, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407010.7", "url": "https://www.ensembl.org/id/ENST00000407010.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000385478.2", "url": "https://www.ensembl.org/id/ENSP00000385478.2" } ] } }, { "isoform_ac": "A4D126-2", "url": "", "sequence": { "sequence": "MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA", "length": 401, "header": "sp|A4D126-2|ISPD_HUMAN Isoform 2 of D-ribitol-5-phosphate cytidylyltransferase OS=Homo sapiens OX=9606 GN=CRPPA PE=1 SV=2 CANONICAL=A4D126-1" }, "locus": { "chromosome": "7", "start_pos": 16421322, "end_pos": 16091698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399310.3", "url": "https://www.ensembl.org/id/ENST00000399310.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000382249.3", "url": "https://www.ensembl.org/id/ENSP00000382249.3" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "journal": "Nature genetics", "date": "2012", "authors": "Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "22522420", "url": "https://glygen.org/publication/PubMed/22522420" } ] }, { "title": "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.", "journal": "Nature genetics", "date": "2012", "authors": "Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "22522421", "url": "https://glygen.org/publication/PubMed/22522421" } ] }, { "title": "Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.", "journal": "American journal of human genetics", "date": "2012", "authors": "Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" }, { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "23217329", "url": "https://glygen.org/publication/PubMed/23217329" } ] }, { "title": "ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.", "journal": "Brain : a journal of neurology", "date": "2013", "authors": "Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "23288328", "url": "https://glygen.org/publication/PubMed/23288328" } ] }, { "title": "Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.", "journal": "Neurology", "date": "2013", "authors": "Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "23390185", "url": "https://glygen.org/publication/PubMed/23390185" } ] }, { "title": "160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.", "journal": "European journal of medical genetics", "date": "2013", "authors": "Czeschik JC, Hehr U, Hartmann B, Ludecke HJ, Rosenbaum T, Schweiger B, Wieczorek D", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "24120487", "url": "https://glygen.org/publication/PubMed/24120487" } ] }, { "title": "Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.", "journal": "Chemistry & biology", "date": "2015-12-17", "authors": "Riemersma Moniek, Froese D Sean, van Tol Walinka, Engelke Udo F, Kopec Jolanta, van Scherpenzeel Monique, Ashikov Angel, Krojer Tobias, von Delft Frank, Tessari Marco, Buczkowska Anna, Swiezewska Ewa, Jae Lucas T, Brummelkamp Thijn R, Manya Hiroshi, Endo Tamao, van Bokhoven Hans, Yue Wyatt W, Lefeber Dirk J", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "26687144", "url": "https://glygen.org/publication/PubMed/26687144" } ] }, { "title": "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.", "journal": "Cell reports", "date": "2016", "authors": "Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "26923585", "url": "https://glygen.org/publication/PubMed/26923585" } ] }, { "title": "The functional O-mannose glycan on alpha-dystroglycan contains a phospho-ribitol primed for matriglycan addition.", "journal": "eLife", "date": "2016", "authors": "Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin YY, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP, Wells L", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "27130732", "url": "https://glygen.org/publication/PubMed/27130732" } ] }, { "title": "ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan.", "journal": "Nature communications", "date": "2016", "authors": "Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "27194101", "url": "https://glygen.org/publication/PubMed/27194101" } ] }, { "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": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "27234031", "url": "https://glygen.org/publication/PubMed/27234031" } ] }, { "title": "Direct Mapping of Additional Modifications on Phosphorylated O-glycans of \u03b1-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016-11", "authors": "Yagi Hirokazu, Kuo Chu-Wei, Obayashi Takayuki, Ninagawa Satoshi, Khoo Kay-Hooi, Kato Koichi", "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprot/A4D126" } ], "reference": [ { "type": "PubMed", "id": "27601598", "url": "https://glygen.org/publication/PubMed/27601598" } ] }, { "title": "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.", "journal": "Clinical genetics", "date": "2020", "authors": "Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T, Wu X, Xiong H", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "31909476", "url": "https://glygen.org/publication/PubMed/31909476" } ] }, { "title": "Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis.", "journal": "Aging", "date": "2020", "authors": "Hu Q, Gu Y, Chen S, Tian Y, Yang S", "evidence": [ { "database": "RefSeq", "id": "NP_001094887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094887" } ], "reference": [ { "type": "PubMed", "id": "33290265", "url": "https://glygen.org/publication/PubMed/33290265" } ] } ], "pathway": [ { "id": "hsa:729920", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729920", "resource": 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