{ "uniprot_canonical_ac": "P10644-1", "uniprot_ac": "P10644", "uniprot_id": "KAP0_HUMAN", "mass": { "chemical_mass": 42982.0, "monoisotopic_mass": 42982.0 }, "refseq": { "ac": "NP_001263218", "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a", "summary": "cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218" }, "gene_names": [ { "name": "PRKAR1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10644", "id": "P10644" }, { "name": "ACRDYS1; ADOHR; CAR; CNC; CNC1; PKR1; PPNAD1; PRKAR1; Prkar1alpha; TSE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218", "id": "NP_001263218" }, { "name": "PKR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10644", "id": "P10644" }, { "name": "PRKAR1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218", "id": "NP_001263218" }, { "name": "PRKAR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10644", "id": "P10644" }, { "name": "TSE1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10644", "id": "P10644" } ], "protein_names": [ { "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10644" }, { "name": "TSE1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10644" }, { "name": "Tissue-specific extinguisher 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10644" }, { "name": "cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218", "id": "NP_001263218" }, { "name": "tissue-specific extinguisher 1; cAMP-dependent protein kinase type I-alpha regulatory chain; cAMP-dependent protein kinase regulatory subunit RIalpha; protein kinase A type 1a regulatory subunit; epididymis secretory sperm binding protein; protein kinase, cAMP-dependent, regulatory, type I, alpha; Carney complex type 1; protein kinase, cAMP-dependent, regulatory subunit type I alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218", "id": "NP_001263218" } ], "function": [ { "annotation": "A nonconventional nuclear localization sequence (NLS) has been found for PRKAR1A. This suggests a new function for PRKAR1A as a nuclear transport protein for the second subunit of RFC40.", "evidence": [ { "database": "RefSeq", "id": "NP_001263218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218" }, { "database": "PubMed", "id": "15846072", "url": "https://glygen.org/publication/PubMed/15846072" } ] }, { "annotation": "Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by ~95%.", "evidence": [ { "database": "RefSeq", "id": "NP_001263218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218" }, { "database": "PubMed", "id": "19372376", "url": "https://glygen.org/publication/PubMed/19372376" } ] }, { "annotation": "PRKAR1A might function as a tumor suppressor gene Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001263218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218" }, { "database": "PubMed", "id": "15331577", "url": "https://glygen.org/publication/PubMed/15331577" } ] }, { "annotation": "Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.", "evidence": [ { "database": "UniProtKB", "id": "P10644", "url": "https://www.uniprot.org/uniprot/P10644#function" }, { "database": "PubMed", "id": "16491121", "url": "https://glygen.org/publication/PubMed/16491121" }, { "database": "PubMed", "id": "20215566", "url": "https://glygen.org/publication/PubMed/20215566" }, { "database": "PubMed", "id": "26405036", "url": "https://glygen.org/publication/PubMed/26405036" }, { "database": "UniProtKB", "id": "K7EK41", "url": "https://www.uniprot.org/uniprot/K7EK41#function" }, { "database": "UniProtKB", "id": "ARBA00037751", "url": "https://www.uniprot.org/uniprot/ARBA00037751#function" }, { "database": "UniProtKB", "id": "K7EPB2", "url": "https://www.uniprot.org/uniprot/K7EPB2#function" }, { "database": "UniProtKB", "id": "K7EJ40", "url": "https://www.uniprot.org/uniprot/K7EJ40#function" }, { "database": "UniProtKB", "id": "K7EM13", "url": "https://www.uniprot.org/uniprot/K7EM13#function" } ] }, { "annotation": "cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001263218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263218" } ] } ], "disease": [ { "disease_id": "DOID:0050471", "recommended_name": { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex", "description": "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." }, "synonyms": [ { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 1", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 2", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex variant", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "LAMB Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "NAME Syndrome", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "CNC2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney Myxoma-endocrine Complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type II", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex - trismus - pseudocamptodactyly syndrome", "description": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex variant", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "CARNEY complex variant", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex caused by mutation in PRKAR1A", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "PRKAR1A Carney complex", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "CNC1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney Myxoma-endocrine Complex", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney syndrome", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "lamb syndrome", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "myxoma, spotty pigmentation, and endocrine overactivity", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "name syndrome", "description": "" }, { "id": "MIM:608837", "resource": "MIM", "url": "https://www.omim.org/entry/608837", "name": "Carney complex variant", "description": "Carney complex variant" }, { "id": "MIM:160980", "resource": "MIM", "url": "https://www.omim.org/entry/160980", "name": "Carney complex 1", "description": "Carney complex 1" } ], "evidence": [ { "id": "160980", "database": "MIM", "url": "https://www.omim.org/entry/160980" } ] }, { "disease_id": "DOID:0060280", "recommended_name": { "id": "DOID:0060280", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060280", "name": "primary pigmented nodular adrenocortical disease", "description": "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules." }, "synonyms": [ { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, 3", "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "PDE8B primary pigmented nodular adrenocortical disease", "description": "" }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, 3", "description": "" }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, type 3", "description": "" }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B", "description": "" }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "Cushing syndrome, adrenal, due to PPNAD3", "description": "" }, { "id": "MONDO:0013616", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013616", "name": "PPNAD3", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, 2", "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "PDE11A primary pigmented nodular adrenocortical disease", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, 2", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, type 2", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "Cushing syndrome, adrenal, due to PPNAD2", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "PPNAD2", "description": "" }, { "id": "MONDO:0012505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012505", "name": "pigmented micronodular adrenocortical disease, primary, 2", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, 4", "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "Cushing syndrome, ACTH-independent adrenal, somatic", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "PRKACA primary pigmented nodular adrenocortical disease", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, 4", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, type 4", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "ACTH-independent adrenal Cushing syndrome, somatic", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "Cushing syndrome, adrenal, due to Ppnad4", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "PPNAD4", "description": "" }, { "id": "MONDO:0014359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014359", "name": "chromosome 19P13 Duplication syndrome", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, 1", "description": "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "PRKAR1A primary pigmented nodular adrenocortical disease", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, 1", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, type 1", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "Cushing syndrome, adrenal, due to PPNAD1", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "PPNAD1", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "adrenocortical nodular dysplasia, primary", "description": "" }, { "id": "MONDO:0012509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012509", "name": "pigmented micronodular adrenocortical disease, primary, 1", "description": "" }, { "id": "MIM:614190", "resource": "MIM", "url": "https://www.omim.org/entry/614190", "name": "Primary pigmented nodular adrenocortical disease 3", "description": "Primary pigmented nodular adrenocortical disease 3" }, { "id": "MIM:610475", "resource": "MIM", "url": "https://www.omim.org/entry/610475", "name": "Primary pigmented nodular adrenocortical disease 2", "description": "Primary pigmented nodular adrenocortical disease 2" }, { "id": "MIM:615830", "resource": "MIM", "url": "https://www.omim.org/entry/615830", "name": "Primary pigmented nodular adrenocortical disease 4", "description": "Primary pigmented nodular adrenocortical disease 4" }, { "id": "MIM:610489", "resource": "MIM", "url": "https://www.omim.org/entry/610489", "name": "Primary pigmented nodular adrenocortical disease 1", "description": "Primary pigmented nodular adrenocortical disease 1" } ], "evidence": [ { "id": "610489", "database": "MIM", "url": "https://www.omim.org/entry/610489" } ] }, { "disease_id": "DOID:14669", "recommended_name": { "id": "DOID:14669", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14669", "name": "acrodysostosis", "description": "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency." }, "synonyms": [ { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "Acrodysostosis 1 with or without hormone resistance", "description": "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." }, { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "ADOHR", "description": "" }, { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "Acrodysostosis 1", "description": "" }, { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "Acrodysostosis 1 with or without hormone resistance", "description": "" }, { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "Acrodysostosis 1, with or without hormone resistance", "description": "" }, { "id": "MONDO:0007044", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007044", "name": "ACRDYS1", "description": "" }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "acrodysostosis 2 with or without hormone resistance", "description": "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "PDE4D acrodysostosis", "description": "" }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "acrodysostosis 2 with or without hormone resistance", "description": "" }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "acrodysostosis 2, with or without hormone resistance", "description": "" }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "acrodysostosis caused by mutation in PDE4D", "description": "" }, { "id": "MONDO:0013822", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013822", "name": "ACRDYS2", "description": "" }, { "id": "MIM:101800", "resource": "MIM", "url": "https://www.omim.org/entry/101800", "name": "Acrodysostosis 1, with or without hormone resistance", "description": "Acrodysostosis 1, with or without hormone resistance" }, { "id": "MIM:614613", "resource": "MIM", "url": "https://www.omim.org/entry/614613", "name": "Acrodysostosis 2, with or without hormone resistance", "description": "Acrodysostosis 2, with or without hormone resistance" } ], "evidence": [ { "id": "101800", "database": "MIM", "url": "https://www.omim.org/entry/101800" } ] }, { "disease_id": "MONDO:0009719", "recommended_name": { "id": "MONDO:0009719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009719", "name": "familial atrial myxoma", "description": "" }, "synonyms": [ { "id": "MONDO:0009719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009719", "name": "MYXOMA, intracardiac", "description": "" }, { "id": "MONDO:0009719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009719", "name": "atrial Myxoma, familial", "description": "" }, { "id": "MONDO:0009719", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009719", "name": "intracardiac myxoma", "description": "" }, { "id": "MIM:255960", "resource": "MIM", "url": "https://www.omim.org/entry/255960", "name": "Intracardiac myxoma", "description": "Intracardiac myxoma" } ], "evidence": [ { "id": "255960", "database": "MIM", "url": "https://www.omim.org/entry/255960" } ] } ], "snv": [ { "evidence": [ { "id": "rs1205068188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205068188" }, { "id": "rs1205068188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1205068188#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "17", "chr_pos": "68523746", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2085693747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085693747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 146, "end_pos": 146, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NES).", "chr_id": "17", "chr_pos": "68523814", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R146", "disease": [ { "disease_id": "DOID:0050471", "recommended_name": { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex", "description": "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." }, "synonyms": [ { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 1", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 2", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex variant", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "LAMB Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "NAME Syndrome", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "CNC2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney Myxoma-endocrine Complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type II", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex - trismus - pseudocamptodactyly syndrome", "description": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex variant", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "CARNEY complex variant", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex caused by mutation in PRKAR1A", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "PRKAR1A Carney complex", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "CNC1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney Myxoma-endocrine Complex", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney syndrome", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "lamb syndrome", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "myxoma, spotty pigmentation, and endocrine overactivity", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "name syndrome", "description": "" }, { "id": "MIM:608837", "resource": "MIM", "url": "https://www.omim.org/entry/608837", "name": "Carney complex variant", "description": "Carney complex variant" }, { "id": "MIM:160980", "resource": "MIM", "url": "https://www.omim.org/entry/160980", "name": "Carney complex 1", "description": "Carney complex 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1242606073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242606073" }, { "id": "rs1242606073", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1242606073#frequency_tab" }, { "id": "rs1242606073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1242606073" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 252, "end_pos": 252, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "17", "chr_pos": "68527887", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K252", "disease": [ { "disease_id": "DOID:0050471", "recommended_name": { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex", "description": "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." }, "synonyms": [ { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 1", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Complex, Type 2", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "Carney complex variant", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "LAMB Syndrome", "description": "" }, { "id": "DOID:0050471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050471", "name": "NAME Syndrome", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "CNC2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney Myxoma-endocrine Complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type 2", "description": "" }, { "id": "MONDO:0011525", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011525", "name": "Carney complex, type II", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex - trismus - pseudocamptodactyly syndrome", "description": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "Carney complex variant", "description": "" }, { "id": "MONDO:0012137", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012137", "name": "CARNEY complex variant", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex caused by mutation in PRKAR1A", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney complex, type 1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "PRKAR1A Carney complex", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "CNC1", "description": "" }, { "id": "MONDO:0008057", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008057", "name": "Carney 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"ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": 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"http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108946", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108946" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10644" } ], "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 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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10644" } ], "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": "P10644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10644" } ], "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 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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": "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 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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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10644", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10644" } ], "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", 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"18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19562805", "url": "https://glygen.org/publication/PubMed/19562805" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser83" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "Q00536-1", "kinase_gene_name": "CDK16", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P10644", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10644" }, { "database": "PubMed", "id": "25605337", "url": "" } ], "site_lbl": "Ser83" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P10644", "url": "https://www.uniprot.org/uniprot/P10644" }, { "database": "PubMed", "id": "17081983", "url": 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"P10644", "url": "http://phospho.elm.eu.org/byAccession/P10644.html" }, { "database": "iPTMnet", "id": "P10644", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10644" }, { "database": "PubMed", "id": "15572359", "url": "https://glygen.org/publication/PubMed/15572359" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser83" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Calmodulin-binding sites on adenylyl cyclase type VIII.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gu C, Cooper DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-163615", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163615" } ], "reference": [ { "type": "PubMed", "id": "10075700", "url": "https://glygen.org/publication/PubMed/10075700" } ] }, { "title": "A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation.", "journal": "Blood", "date": "1999", "authors": "Lamant L, Dastugue N, Pulford K, Delsol G, Mariame B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10216106", "url": "https://glygen.org/publication/PubMed/10216106" } ] }, { "title": "cAMP-dependent mobilization of intracellular Ca2+ stores by activation of ryanodine receptors in pancreatic beta-cells. A Ca2+ signaling system stimulated by the insulinotropic hormone glucagon-like peptide-1-(7-37).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Holz GG, Leech CA, Heller RS, Castonguay M, Habener JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "10318832", "url": "https://glygen.org/publication/PubMed/10318832" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "10496952", "url": 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