{
"uniprot_canonical_ac": "P09619-1",
"uniprot_ac": "P09619",
"uniprot_id": "PGFRB_HUMAN",
"mass": {
"chemical_mass": 123968.0,
"monoisotopic_mass": 123968.0
},
"refseq": {
"ac": "NP_002600",
"name": "platelet-derived growth factor receptor beta isoform 1 precursor",
"summary": "The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
},
"gene_names": [
{
"name": "PDGFRB",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P09619",
"id": "P09619"
},
{
"name": "CD140B; IBGC4; IMF1; JTK12; KOGS; PDGFR; PDGFR-1; PDGFR1; PENTT",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600",
"id": "NP_002600"
},
{
"name": "PDGFR1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P09619",
"id": "P09619"
},
{
"name": "PDGFRB",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600",
"id": "NP_002600"
},
{
"name": "PDGFR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P09619",
"id": "P09619"
}
],
"protein_names": [
{
"name": "Platelet-derived growth factor receptor beta",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P09619"
},
{
"name": "2.7.10.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "Beta platelet-derived growth factor receptor",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "Beta-type platelet-derived growth factor receptor",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "CD140 antigen-like family member B",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "PDGF-R-beta; CD140 antigen-like family member B; beta-type platelet-derived growth factor receptor; platelet-derived growth factor receptor, beta polypeptide; Activated tyrosine kinase PDGFRB; PDGFR-beta; platelet-derived growth factor receptor 1; NDEL1-PDGFRB",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600",
"id": "NP_002600"
},
{
"name": "PDGF-R-beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "PDGFR-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "PDGFR-beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "Platelet-derived growth factor receptor 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P09619"
},
{
"name": "platelet-derived growth factor receptor beta isoform 1 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600",
"id": "NP_002600"
}
],
"function": [
{
"annotation": "Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
},
{
"database": "PubMed",
"id": "37899509",
"url": "https://glygen.org/publication/PubMed/37899509"
}
]
},
{
"annotation": "Corneal Vascularization Associated With a Novel PDGFRB Variant.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
},
{
"database": "PubMed",
"id": "37934158",
"url": "https://glygen.org/publication/PubMed/37934158"
}
]
},
{
"annotation": "Ligand-independent activation of platelet-derived growth factor receptor beta promotes vitreous-induced contraction of retinal pigment epithelial cells. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
},
{
"database": "PubMed",
"id": "37537538",
"url": "https://glygen.org/publication/PubMed/37537538"
}
]
},
{
"annotation": "The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
}
]
},
{
"annotation": "Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619#function"
},
{
"database": "PubMed",
"id": "1846866",
"url": "https://glygen.org/publication/PubMed/1846866"
},
{
"database": "PubMed",
"id": "26599395",
"url": "https://glygen.org/publication/PubMed/26599395"
},
{
"database": "PubMed",
"id": "2835772",
"url": "https://glygen.org/publication/PubMed/2835772"
},
{
"database": "PubMed",
"id": "11331881",
"url": "https://glygen.org/publication/PubMed/11331881"
},
{
"database": "PubMed",
"id": "21679854",
"url": "https://glygen.org/publication/PubMed/21679854"
},
{
"database": "PubMed",
"id": "2554309",
"url": "https://glygen.org/publication/PubMed/2554309"
},
{
"database": "PubMed",
"id": "20494825",
"url": "https://glygen.org/publication/PubMed/20494825"
},
{
"database": "PubMed",
"id": "1653029",
"url": "https://glygen.org/publication/PubMed/1653029"
},
{
"database": "PubMed",
"id": "7685273",
"url": "https://glygen.org/publication/PubMed/7685273"
},
{
"database": "PubMed",
"id": "2850496",
"url": "https://glygen.org/publication/PubMed/2850496"
},
{
"database": "PubMed",
"id": "1396585",
"url": "https://glygen.org/publication/PubMed/1396585"
},
{
"database": "PubMed",
"id": "1709159",
"url": "https://glygen.org/publication/PubMed/1709159"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "11297552",
"url": "https://glygen.org/publication/PubMed/11297552"
},
{
"database": "PubMed",
"id": "8195171",
"url": "https://glygen.org/publication/PubMed/8195171"
},
{
"database": "PubMed",
"id": "7691811",
"url": "https://glygen.org/publication/PubMed/7691811"
},
{
"database": "PubMed",
"id": "7692233",
"url": "https://glygen.org/publication/PubMed/7692233"
},
{
"database": "PubMed",
"id": "20529858",
"url": "https://glygen.org/publication/PubMed/20529858"
},
{
"database": "PubMed",
"id": "21733313",
"url": "https://glygen.org/publication/PubMed/21733313"
},
{
"database": "PubMed",
"id": "21098708",
"url": "https://glygen.org/publication/PubMed/21098708"
}
]
},
{
"annotation": "[Clinical significance of PDGFRbeta gene testing in hematological tumors].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_002600",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600"
},
{
"database": "PubMed",
"id": "37906137",
"url": "https://glygen.org/publication/PubMed/37906137"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0050458",
"recommended_name": {
"id": "DOID:0050458",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050458",
"name": "juvenile myelomonocytic leukemia",
"description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."
},
"synonyms": [
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile myelomonocytic leukemia",
"description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)"
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "chronic myelomonocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "chronic myelomonocytic leukemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "JCML",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "JMML",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myelogenous leukaemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myelogenous leukemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myeloid leukaemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myeloid leukemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myelomonocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile chronic myelomonocytic leukemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile myelomonocytic leukemia",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "leukemia, juvenile myelomonocytic, somatic",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "leukemia, chronic myelomonocytic",
"description": ""
},
{
"id": "MONDO:0011908",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011908",
"name": "leukemia, juvenile myelomonocytic",
"description": ""
},
{
"id": "MIM:607785",
"resource": "MIM",
"url": "https://www.omim.org/entry/607785",
"name": "Leukemia, juvenile myelomonocytic",
"description": "Leukemia, juvenile myelomonocytic"
}
],
"evidence": [
{
"id": "607785",
"database": "MIM",
"url": "https://www.omim.org/entry/607785"
}
]
},
{
"disease_id": "DOID:0060230",
"recommended_name": {
"id": "DOID:0060230",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060230",
"name": "basal ganglia calcification",
"description": "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills."
},
"synonyms": [
{
"id": "DOID:0060230",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060230",
"name": "Fahr disease",
"description": ""
},
{
"id": "MONDO:0014004",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014004",
"name": "basal ganglia calcification, idiopathic, 4",
"description": ""
},
{
"id": "MONDO:0014004",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014004",
"name": "basal ganglia calcification, idiopathic, 4",
"description": ""
},
{
"id": "MONDO:0014004",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014004",
"name": "basal ganglia calcification, idiopathic, type 4",
"description": ""
},
{
"id": "MONDO:0014004",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014004",
"name": "IBGC4",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, 1",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "IBGC1",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "IBGC2",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, 1",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, 2",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, type 1",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "idiopathic basal ganglia calcification 1",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "Fahr disease, familial",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "Fahr disease, familial, formerly",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, 3",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "basal ganglia calcification, idiopathic, 3, formerly",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "ferrocalcinosis, cerebrovascular",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "striopallidodentate calcinosis, autosomal dominant, adult-onset",
"description": ""
},
{
"id": "MONDO:0024538",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0024538",
"name": "striopallidodentate calcinosis, bilateral",
"description": ""
},
{
"id": "MONDO:0014204",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014204",
"name": "basal ganglia calcification, idiopathic, 5",
"description": ""
},
{
"id": "MONDO:0014204",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014204",
"name": "basal ganglia calcification, idiopathic, 5",
"description": ""
},
{
"id": "MONDO:0014204",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014204",
"name": "basal ganglia calcification, idiopathic, type 5",
"description": ""
},
{
"id": "MONDO:0014204",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014204",
"name": "IBGC5",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "basal ganglia calcification, idiopathic, childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "basal ganglia calcification, idiopathic, childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "IBGC childhood onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "IBGC, childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "bilateral striopallidodentate calcinosis childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "cerebral calcification nonarteriosclerotic idiopathic childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "idiopathic basal ganglia calcification childhood-onset",
"description": ""
},
{
"id": "MONDO:0007247",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007247",
"name": "striopallidodentate calcinosis, bilateral, childhood-onset",
"description": ""
},
{
"id": "MIM:615007",
"resource": "MIM",
"url": "https://www.omim.org/entry/615007",
"name": "Basal ganglia calcification, idiopathic, 4",
"description": "Basal ganglia calcification, idiopathic, 4"
},
{
"id": "MIM:213600",
"resource": "MIM",
"url": "https://www.omim.org/entry/213600",
"name": "Basal ganglia calcification, idiopathic, 1",
"description": "Basal ganglia calcification, idiopathic, 1"
},
{
"id": "MIM:615483",
"resource": "MIM",
"url": "https://www.omim.org/entry/615483",
"name": "Basal ganglia calcification, idiopathic, 5",
"description": "Basal ganglia calcification, idiopathic, 5"
}
],
"evidence": [
{
"id": "615007",
"database": "MIM",
"url": "https://www.omim.org/entry/615007"
}
]
},
{
"disease_id": "DOID:0080109",
"recommended_name": {
"id": "DOID:0080109",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080109",
"name": "infantile myofibromatosis",
"description": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs."
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"synonyms": [
{
"id": "DOID:0080109",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080109",
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},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "myofibromatosis, infantile, 2",
"description": "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene."
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "NOTCH3 myofibromatosis",
"description": ""
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "myofibromatosis caused by mutation in NOTCH3",
"description": ""
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "myofibromatosis, infantile 2",
"description": ""
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "myofibromatosis, infantile, 2",
"description": ""
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "myofibromatosis, infantile, type 2",
"description": ""
},
{
"id": "MONDO:0014122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014122",
"name": "IMF2",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "myofibromatosis, infantile, 1",
"description": "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene."
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "PDGFRB myofibromatosis",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "myofibromatosis caused by mutation in PDGFRB",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "myofibromatosis, infantile, 1",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "myofibromatosis, infantile, type 1",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "IMF1",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "fibromatosis, congenital generalised",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "fibromatosis, congenital generalized",
"description": ""
},
{
"id": "MONDO:0009227",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009227",
"name": "myofibromatosis, juvenile",
"description": ""
},
{
"id": "MIM:615293",
"resource": "MIM",
"url": "https://www.omim.org/entry/615293",
"name": "Myofibromatosis, infantile 2",
"description": "Myofibromatosis, infantile 2"
},
{
"id": "MIM:228550",
"resource": "MIM",
"url": "https://www.omim.org/entry/228550",
"name": "Myofibromatosis, infantile 1",
"description": "Myofibromatosis, infantile 1"
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],
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{
"id": "228550",
"database": "MIM",
"url": "https://www.omim.org/entry/228550"
}
]
},
{
"disease_id": "DOID:0111344",
"recommended_name": {
"id": "DOID:0111344",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111344",
"name": "myeloproliferative disorder with eosinophilia",
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{
"id": "DOID:0111344",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111344",
"name": "chronic myeloproliferative disorder with eosinophilia",
"description": ""
},
{
"id": "MONDO:0007546",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007546",
"name": "myeloproliferative disorder, chronic, with eosinophilia",
"description": ""
},
{
"id": "MONDO:0007546",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007546",
"name": "myeloproliferative disorder with eosinophilia",
"description": ""
},
{
"id": "MONDO:0007546",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007546",
"name": "myeloproliferative disorder, chronic, with eosinophilia",
"description": ""
},
{
"id": "MONDO:0007546",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007546",
"name": "MPE",
"description": ""
},
{
"id": "MONDO:0007546",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007546",
"name": "eosinophils, malignant proliferation of",
"description": ""
},
{
"id": "MIM:131440",
"resource": "MIM",
"url": "https://www.omim.org/entry/131440",
"name": "Myeloproliferative disorder chronic with eosinophilia",
"description": "Myeloproliferative disorder chronic with eosinophilia"
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],
"evidence": [
{
"id": "131440",
"database": "MIM",
"url": "https://www.omim.org/entry/131440"
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},
{
"disease_id": "DOID:9119",
"recommended_name": {
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myeloid leukemia",
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"id": "DOID:9119",
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"url": "http://disease-ontology.org/term/DOID:9119",
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"description": ""
},
{
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
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{
"id": "DOID:9119",
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"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myeloblastic leukaemia",
"description": ""
},
{
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myeloblastic leukemia",
"description": ""
},
{
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myelogenous leukaemia",
"description": ""
},
{
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myelogenous leukemia",
"description": ""
},
{
"id": "DOID:9119",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9119",
"name": "acute myeloid leukaemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloid leukemia",
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{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "AML",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "AML - acute myeloid leukaemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "AML - acute myeloid leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "ANLL",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute Nonlymphocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute Nonlymphocytic leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute granulocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute granulocytic leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloblastic leukaemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloblastic leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myelocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myelocytic leukemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myelogenous leukaemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myelogenous leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myelogenous leukemias",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloid leukaemia (AML)",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloid leukemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloid leukemia (AML)",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute myeloid leukemia, somatic",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute nonlymphocytic leukaemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute nonlymphocytic leukemia",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "hematopoeitic - acute Myleogenous leukaemia (AML)",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "hematopoeitic - acute Myleogenous leukemia (AML)",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "leukemia, acute myeloid, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "leukemia, acute myeloid, reduced survival in, somatic",
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},
{
"id": "MONDO:0018874",
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},
{
"id": "MONDO:0018874",
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"url": "https://monarchinitiative.org/disease/MONDO:0018874",
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{
"id": "MONDO:0018874",
"resource": "MONDO",
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"name": "leukemia, myelocytic, acute",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "myeloid leukemia, acute",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute non lymphoblastic leukaemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "acute non lymphoblastic leukemia",
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},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "leukemia, acute myelogenous",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "leukemia, acute myeloid",
"description": ""
},
{
"id": "MONDO:0018874",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0018874",
"name": "leukemia, acute myeloid, susceptibility to",
"description": ""
},
{
"id": "MIM:601626",
"resource": "MIM",
"url": "https://www.omim.org/entry/601626",
"name": "Leukemia, acute myelogenous",
"description": "Leukemia, acute myelogenous"
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],
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"id": "601626",
"database": "MIM",
"url": "https://www.omim.org/entry/601626"
}
]
},
{
"disease_id": "MONDO:0011150",
"recommended_name": {
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "acroosteolysis-keloid-like lesions-premature aging syndrome",
"description": ""
},
"synonyms": [
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"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "premature ageing syndrome, Penttinen type",
"description": ""
},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "premature aging syndrome, Penttinen type",
"description": ""
},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "PENTT",
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},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "Penttinen-aula syndrome",
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},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "premature ageing syndrome Penttinen type",
"description": ""
},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "premature aging syndrome Penttinen type",
"description": ""
},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly",
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},
{
"id": "MONDO:0011150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011150",
"name": "progeroid syndrome, Penttinen type",
"description": ""
},
{
"id": "MIM:601812",
"resource": "MIM",
"url": "https://www.omim.org/entry/601812",
"name": "Premature aging syndrome, Penttinen type",
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"id": "601812",
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]
},
{
"disease_id": "MONDO:0014704",
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"resource": "MONDO",
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"name": "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome",
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"id": "MONDO:0014704",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014704",
"name": "Kosaki overgrowth syndrome",
"description": ""
},
{
"id": "MONDO:0014704",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014704",
"name": "KOGS",
"description": ""
},
{
"id": "MONDO:0014704",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014704",
"name": "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration",
"description": ""
},
{
"id": "MIM:616592",
"resource": "MIM",
"url": "https://www.omim.org/entry/616592",
"name": "Kosaki overgrowth syndrome",
"description": "Kosaki overgrowth syndrome"
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],
"evidence": [
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"id": "616592",
"database": "MIM",
"url": "https://www.omim.org/entry/616592"
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]
}
],
"snv": [
{
"evidence": [
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"id": "P09619",
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"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P09619"
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],
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"end_pos": 1003,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
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"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DTS->NTS).",
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"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "D1003",
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{
"disease_id": "DOID:4159",
"recommended_name": {
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "skin cancer",
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},
"synonyms": [
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"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "CA - skin cancer",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "malignant neoplasm of skin",
"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
"name": "melanoma and Non-melanoma skin cancer",
"description": ""
}
]
}
],
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"cancer",
"disease"
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},
{
"evidence": [
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"id": "rs1428098106",
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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1428098106"
},
{
"id": "rs1428098106",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1428098106"
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],
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"start_pos": 1017,
"end_pos": 1017,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEG->NES).",
"chr_id": "5",
"chr_pos": "150117706",
"ref_nt": "T",
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).",
"chr_id": "5",
"chr_pos": "150129899",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "0.001398",
"site_lbl": "N479",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs758072563",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758072563"
},
{
"id": "rs758072563",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758072563"
},
{
"id": "rs758072563",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs758072563"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 481,
"end_pos": 481,
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVM).",
"chr_id": "5",
"chr_pos": "150129894",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T481",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs779484502",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779484502"
},
{
"id": "rs779484502",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779484502"
},
{
"id": "rs779484502",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs779484502"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 481,
"end_pos": 481,
"sequence_org": "T",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVP).",
"chr_id": "5",
"chr_pos": "150129895",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T481",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1323185629",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323185629"
},
{
"id": "rs1323185629",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1323185629"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 590,
"end_pos": 590,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).",
"chr_id": "5",
"chr_pos": "150125484",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D590",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1262390516",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262390516"
},
{
"id": "rs1262390516",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1262390516#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 814,
"end_pos": 814,
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGM->NGT).",
"chr_id": "5",
"chr_pos": "150121226",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "M814",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1170328754",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170328754"
},
{
"id": "rs1170328754",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1170328754#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 91,
"end_pos": 91,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).",
"chr_id": "5",
"chr_pos": "150135648",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T91",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 1009,
"end_pos": 1009,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No effect on interaction with GRB10. Abolishes interaction with PLCG1; when associated with F-1021.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1396585",
"url": "https://glygen.org/publication/PubMed/1396585"
},
{
"database": "PubMed",
"id": "7691811",
"url": "https://glygen.org/publication/PubMed/7691811"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
},
{
"start_pos": 1021,
"end_pos": 1021,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Strongly reduces up-regulation of cell proliferation. Abolishes interaction with PLCG1; when associated with F-1009. No effect on interaction with GRB10.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "21679854",
"url": "https://glygen.org/publication/PubMed/21679854"
},
{
"database": "PubMed",
"id": "1396585",
"url": "https://glygen.org/publication/PubMed/1396585"
},
{
"database": "PubMed",
"id": "17620338",
"url": "https://glygen.org/publication/PubMed/17620338"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
},
{
"start_pos": 579,
"end_pos": 579,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of kinase activity; when associated with F-581. Strongly reduces interaction with SRC family kinases. No effect on interaction with GRB10.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "7685273",
"url": "https://glygen.org/publication/PubMed/7685273"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
},
{
"start_pos": 581,
"end_pos": 581,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of kinase activity; when associated with F-579. No effect on interaction with GRB10.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "7685273",
"url": "https://glygen.org/publication/PubMed/7685273"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
},
{
"start_pos": 634,
"end_pos": 634,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Loss of kinase activity. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1846866",
"url": "https://glygen.org/publication/PubMed/1846866"
},
{
"database": "PubMed",
"id": "20494825",
"url": "https://glygen.org/publication/PubMed/20494825"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"start_pos": 634,
"end_pos": 634,
"sequence_org": "K",
"sequence_mut": "R",
"comment": "Loss of kinase activity. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1846866",
"url": "https://glygen.org/publication/PubMed/1846866"
},
{
"database": "PubMed",
"id": "20494825",
"url": "https://glygen.org/publication/PubMed/20494825"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"start_pos": 716,
"end_pos": 716,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No effect neither on interaction with GRB10 and RASA1 nor on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
},
{
"start_pos": 740,
"end_pos": 740,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Strongly reduces up-regulation of cell proliferation; when associated with F-751. Strongly decreases phosphatidylinositol 3-kinase activity. No effect on interaction with GRB10 and RASA1.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "21679854",
"url": "https://glygen.org/publication/PubMed/21679854"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
},
{
"database": "PubMed",
"id": "1375321",
"url": "https://glygen.org/publication/PubMed/1375321"
}
]
},
{
"start_pos": 751,
"end_pos": 751,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Strongly reduces up-regulation of cell proliferation; when associated with F-740. Abolishes phosphatidylinositol 3-kinase activity and interaction with NCK1, and slightly reduces interaction with RASA1. No effect on interaction with GRB10.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "21679854",
"url": "https://glygen.org/publication/PubMed/21679854"
},
{
"database": "PubMed",
"id": "1653029",
"url": "https://glygen.org/publication/PubMed/1653029"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "7692233",
"url": "https://glygen.org/publication/PubMed/7692233"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
},
{
"database": "PubMed",
"id": "1375321",
"url": "https://glygen.org/publication/PubMed/1375321"
}
]
},
{
"start_pos": 763,
"end_pos": 763,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No effect on interaction with RASA1 and on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"start_pos": 771,
"end_pos": 771,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of interaction with GRB10. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
},
{
"database": "PubMed",
"id": "1375321",
"url": "https://glygen.org/publication/PubMed/1375321"
}
]
},
{
"start_pos": 775,
"end_pos": 775,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No effect on interaction with RASA1 and on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"start_pos": 778,
"end_pos": 778,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Strongly reduces expression levels.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"start_pos": 857,
"end_pos": 857,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Reduces kinase activity. No effect on interaction with GRB10. Abolishes interaction with RASA1. No effect on phosphatidylinositol 3-kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "20494825",
"url": "https://glygen.org/publication/PubMed/20494825"
},
{
"database": "PubMed",
"id": "1653029",
"url": "https://glygen.org/publication/PubMed/1653029"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
},
{
"database": "PubMed",
"id": "10454568",
"url": "https://glygen.org/publication/PubMed/10454568"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "83.44",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "75.32",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "82.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "90.7",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "97.45",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "89.99",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "68.32",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "86.96",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "95.12",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "77.9",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "80.67",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "94.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "95.86",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000113721",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000113721"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"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": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"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",
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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},
{
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"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",
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"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": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
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{
"database": "BioXpress",
"id": "P09619",
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],
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{
"id": "DOID:11054",
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{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
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{
"disease_id": "DOID:11934",
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{
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
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{
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],
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{
"disease_id": "DOID:1324",
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},
"synonyms": [
{
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "LNCR3",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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"name": "malignant tumor of lung",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "malignant tumour of lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer, protection against",
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},
{
"id": "MONDO:0008903",
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"name": "lung neoplasm",
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},
{
"id": "MIM:211980",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
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},
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},
{
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},
{
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},
{
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},
{
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},
{
"id": "DOID:1612",
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},
{
"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",
"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": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"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": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"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": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P09619",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09619"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "signaling receptor binding",
"id": "GO:0005102",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "enzyme binding",
"id": "GO:0019899",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "protein kinase binding",
"id": "GO:0019901",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet-derived growth factor receptor activity",
"id": "GO:0005017",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005017",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "vascular endothelial growth factor binding",
"id": "GO:0038085",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038085",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet-derived growth factor binding",
"id": "GO:0048407",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet activating factor receptor activity",
"id": "GO:0004992",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004992",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet-derived growth factor beta-receptor activity",
"id": "GO:0005019",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005019",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 34,
"go_terms": [
{
"name": "signal transduction",
"id": "GO:0007165",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "transmembrane receptor protein tyrosine kinase signaling pathway",
"id": "GO:0007169",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of cell population proliferation",
"id": "GO:0008284",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of phospholipase C activity",
"id": "GO:0010863",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010863",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "peptidyl-tyrosine phosphorylation",
"id": "GO:0018108",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of cell migration",
"id": "GO:0030335",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "regulation of actin cytoskeleton organization",
"id": "GO:0032956",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction",
"id": "GO:0051897",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of ERK1 and ERK2 cascade",
"id": "GO:0070374",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of MAP kinase activity",
"id": "GO:0043406",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "protein autophosphorylation",
"id": "GO:0046777",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of smooth muscle cell proliferation",
"id": "GO:0048661",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of calcium-mediated signaling",
"id": "GO:0050850",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of phosphoprotein phosphatase activity",
"id": "GO:0032516",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032516",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet-derived growth factor receptor-beta signaling pathway",
"id": "GO:0035791",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035791",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "cardiac myofibril assembly",
"id": "GO:0055003",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "cell chemotaxis",
"id": "GO:0060326",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of reactive oxygen species metabolic process",
"id": "GO:2000379",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "retina vasculature development in camera-type eye",
"id": "GO:0061298",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "aorta morphogenesis",
"id": "GO:0035909",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of DNA biosynthetic process",
"id": "GO:2000573",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "platelet-derived growth factor receptor signaling pathway",
"id": "GO:0048008",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of calcium ion import",
"id": "GO:0090280",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "phosphatidylinositol metabolic process",
"id": "GO:0046488",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway",
"id": "GO:0038091",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038091",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "metanephric glomerular capillary formation",
"id": "GO:0072277",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072277",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "cell migration involved in vasculogenesis",
"id": "GO:0035441",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035441",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "cell migration involved in coronary angiogenesis",
"id": "GO:0060981",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060981",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "metanephric glomerular mesangial cell proliferation involved in metanephros development",
"id": "GO:0072262",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072262",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of mitotic nuclear division",
"id": "GO:0045840",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of chemotaxis",
"id": "GO:0050921",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of smooth muscle cell migration",
"id": "GO:0014911",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "smooth muscle cell chemotaxis",
"id": "GO:0071670",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071670",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
},
{
"name": "positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway",
"id": "GO:0035793",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035793",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 103,
"end_pos": 105,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1053,
"end_pos": 1055,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 215,
"end_pos": 217,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 230,
"end_pos": 232,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 292,
"end_pos": 294,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 307,
"end_pos": 309,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 354,
"end_pos": 356,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 371,
"end_pos": 373,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 45,
"end_pos": 47,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 468,
"end_pos": 470,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 479,
"end_pos": 481,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 793,
"end_pos": 795,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 89,
"end_pos": 91,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated by PTPN2 at Tyr-579 and Tyr-1021.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "10821867",
"url": "https://glygen.org/publication/PubMed/10821867"
},
{
"database": "PubMed",
"id": "2550144",
"url": "https://glygen.org/publication/PubMed/2550144"
},
{
"database": "PubMed",
"id": "15902258",
"url": "https://glygen.org/publication/PubMed/15902258"
},
{
"database": "PubMed",
"id": "7685273",
"url": "https://glygen.org/publication/PubMed/7685273"
},
{
"database": "PubMed",
"id": "14966296",
"url": "https://glygen.org/publication/PubMed/14966296"
},
{
"database": "PubMed",
"id": "1396585",
"url": "https://glygen.org/publication/PubMed/1396585"
},
{
"database": "PubMed",
"id": "1709159",
"url": "https://glygen.org/publication/PubMed/1709159"
},
{
"database": "PubMed",
"id": "1314164",
"url": "https://glygen.org/publication/PubMed/1314164"
}
]
},
{
"annotation": "N-glycosylated.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "20534510",
"url": "https://glygen.org/publication/PubMed/20534510"
},
{
"database": "PubMed",
"id": "2850496",
"url": "https://glygen.org/publication/PubMed/2850496"
}
]
},
{
"annotation": "Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P09619",
"url": "https://www.uniprot.org/uniprot/P09619"
},
{
"database": "PubMed",
"id": "1313434",
"url": "https://glygen.org/publication/PubMed/1313434"
},
{
"database": "PubMed",
"id": "17620338",
"url": "https://glygen.org/publication/PubMed/17620338"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "10596",
"name": "",
"equation": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
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"P09760-1",
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"Q62862-1",
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"Q07014-1",
"Q4KSH7-1",
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"P57097-1",
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"Q91ZT1-1",
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"F1LVI0-1",
"E9PSY0-1",
"A0A0G2K6M9-1",
"F1LSN4-1",
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"A0A0R4J8U1-1",
"A0A8I6A5T6-1",
"D3ZDS3-1",
"D4ADZ5-1",
"F1LSG7-1",
"F1LRZ0-1",
"D3ZBN3-1",
"F1M0N1-1",
"G3V6K6-1",
"D3ZD03-1",
"D3ZZK3-1",
"E9PT20-1",
"D4A584-1",
"D3ZDH4-1",
"A0A8I5ZVE3-1",
"A0A8I6AWX7-1",
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],
"evidence": [
{
"id": "10596",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/10596"
}
]
},
{
"id": "R-HSA-1524182",
"name": "Activated PLC gamma dissociates from the PDGF receptor",
"equation": "",
"summary": "Once phosphorylated, PLCgamma dissociates from the receptor. The active enzyme promotes intracelllular signaling by catalysing the hydrolysis of PIP2 to generate the second messengers IP3 and DAG.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P19174-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-1524182",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1524182"
}
]
},
{
"id": "R-HSA-1524186",
"name": "Phosphorylation of PLCgamma by PDGFR",
"equation": "",
"summary": "The activated PDGF receptor phosphorylates PLCgamma on tyrosine residues 472,771,783 and 1254, activating the enzyme.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P19174-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-1524186",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1524186"
}
]
},
{
"id": "R-HSA-186765",
"name": "PLC-gamma binds to the active receptor",
"equation": "",
"summary": "PLC-gamma 1 has been shown to bind to phosphorylated Tyr 1021 of the PDGF beta-receptor with high affinity and to Tyr 1009 with low affinity. In the alpha-receptor, Tyr 988 and Tyr 1018 bind PLC-gamma1. Association of PLC-gamma1 with the activated PDGF receptor has been shown to be necessary for its activation.
",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P19174-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186765",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186765"
}
]
},
{
"id": "R-HSA-186773",
"name": "PDGF dimer binds two receptors simultaneously",
"equation": "",
"summary": "PDGF dimer binds two receptors simultaneously. The receptors dimerise on ligand binding and undergo conformational change which is key to receptor autophosphorylation (reviewed in Heldin et al, 1998). PDGFRA and PDGFRB activity can be inhibited by binding to type I and type II tyrosine kinase inhibitors (reviewed in Roskoski, 2018). Type I inhibitors such as crenolanib, avripatinib and pazopanib, bind to the active conformation of the receptor, while type II inhibitors like imatinib, sorafenib and others bind to the inactive conformation (Gril et al, 2013; Wang et al, 2014; Mathias et al, 2015; Meliau et al, 2017; Lombardo et al, 2004; Chen et al, 2006; Matsui et al, 2008; Liu et al, 2011; Hilberg et al, 2008; Hilberg et al, 2017; Wilhelm et al, 2002; Strumberg et al, 2005; Mendel et al, 2003; Roskoski, 2007). PDGFRA signaling can also be inhibited by the monoclonal antibody olaratumab, which interferes with binding of AA, BB and CC ligand to the receptor (Gerber et al, 2012; Loizos et al, 2005; Matei et al, 2006; Russell et al, 2010; Stock et al, 2007).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186773",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186773"
}
]
},
{
"id": "R-HSA-186778",
"name": "SHP2 binds to the active receptor",
"equation": "",
"summary": "Protein-tyrosine phosphatase 2C (SHP2) is ubiquitously expressed and has two SH2 domains, both of which need to be bound to phosphorylated tyrosine residues for full activation of catalytic activity. SHP-2 binds with high affinity to Tyr 1009 of the PDGF beta-receptor and with lower affinity to Tyr 763; it also binds to the alpha-receptor and Tyr 720 in the interkinase domain has been implicated in this binding.
The phosphatase is able to dephosphorylate autophosphorylated PDGF receptors and substrates for PDGF receptors so SHP2 can be thought of as a negative regulator of signaling from PDGF receptors. SHP2 may be involved in positive signaling by binding Grb2/Sos1 and dephosphorylating the COOH-terminal tyrosine of Src, factors important for Src activation.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"Q06124-2",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186778",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186778"
}
]
},
{
"id": "R-HSA-186780",
"name": "PI3-kinase binds to the active receptor",
"equation": "",
"summary": "Phosphatidylinositol 3'-kinases (PI3Ks) are a family of enzymes which can phosphorylate phosphoinositides. PI3Ks bind to and are activated by PDGF receptors. Tyr 740 and Tyr 751 in PDGF beta-receptor, and Tyr 731 and Tyr 742 in PDGF alpha-receptor have been shown to be autophosphorylation sites and to bind PI3-kinase.
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P42336-1",
"P09619-1",
"P42338-1"
],
"evidence": [
{
"id": "R-HSA-186780",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186780"
}
]
},
{
"id": "R-HSA-186786",
"name": "Autophosphorylation of PDGF beta receptors",
"equation": "",
"summary": "Receptor dimerisation is key event in PDGF receptor activation. The intracellular regions of the receptors are juxtaposed which allows trans-phosphorylation between the two receptors in the complex.
The autophosphorylation site Y857 located inside the kinase domain of beta-receptor (PDGFRB) is important for activation of the kinase. This tyrosine is conserved in the alpha-receptor (PDGFRA), where it corresponsds to Y849, and in almost all other tyrosine kinase receptors. The other known autophosphorylation sites are localized outside the kinase domains of the alpha- and beta- receptors; of the 15( beta) or 16 (alpha) tyrosine residues in the intracellular, non-catalytic part of the beta- or alpha receptor, 11 and 10, respectively, are autophosphorylation sites (reviewed in Heldin et al, 1998).
PDGFRA and PDGFRB activity can be inhibited by binding to type I and type II tyrosine kinase inhibitors (reviewed in Roskoski, 2018). Type I inhibitors such as crenolanib, avripatinib and pazopanib, bind to the active conformation of the receptor and inhibit trans-autophosphorylation (Ip et al, 2018; Evans et al, 2017; Davids et al, 2009; reviewed in Roskoski, 2018; Klug et al, 2018; Papadopoulos and Lennartsson, 2016).
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [
"R-HSA-389078"
],
"output_participant_list": [
"R-HSA-389074"
],
"enzyme_list": [
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186786",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186786"
}
]
},
{
"id": "R-HSA-186798",
"name": "GAP binds to PDGF-beta receptors only",
"equation": "",
"summary": "GTPase-activating protein (GAP) has two SH2 domains which bind only to PDGF beta-receptors on Tyr771. GAP does not bind the alpha-receptor. GAP converts Ras-GTP to Ras-GDP, deactivating Ras.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186798",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186798"
}
]
},
{
"id": "R-HSA-186800",
"name": "PI3K catalyses the phosphorylation of PIP2 to PIP3",
"equation": "",
"summary": "The preferred substrate of PI3K is phosphatidylinositol 4,5-bisphosphate [PI(4,5)P2] (PIP2), which is phosphorylated to the trisphosphate [PI(3,4,5)P3] (PIP3). PI3-kinase and its products have been found to be of importance in PDGF-stimulated actin reorganization, and directed cell movement, as well as in the stimulation of cell growth and inhibition of apoptosis.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P42336-1",
"P09619-1",
"P42338-1"
],
"evidence": [
{
"id": "R-HSA-186800",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186800"
}
]
},
{
"id": "R-HSA-186819",
"name": "SH2 domain of Src binds to the active receptor",
"equation": "",
"summary": "The Src family of tyrosine kinases are characterized by a SH3 and a SH2 domain in addition to the kinase domain.Src is activated when the SH2 domain binds to autophosphorylation sites on PDGF receptors (Tyr579 and 581 in the beta-receptor, Tyr572 and 574 in the alpha receptor), in conjuction with dephosporylation of the COOH-terminal phosphorylated tyrosine 527.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P12931-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186819",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186819"
}
]
},
{
"id": "R-HSA-186826",
"name": "GRB2:SOS1 complex binds to the active receptor",
"equation": "",
"summary": "GRB2 is an adaptor molecule containing one SH2 domain and two SH3 domains. The SH2 domain of GRB2 binds directly to autophosphorylated PDGF receptors and with its SH3 domain it forms a complex with SOS1. The binding of GRB2:SOS1 to the PDGF receptor juxtaposes the complex towards RAS molecules leading to RAS activation. RAS activates the MAP kinase cascade, a pathway implicated in cell growth stimulation, migration and differentiation.
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186826",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186826"
}
]
},
{
"id": "R-HSA-186834",
"name": "SOS-mediated nucleotide exchange on RAS (PDGF receptor:GRB2:SOS)",
"equation": "",
"summary": "SOS is the guanine nucleotide exchange factor (GEF) for RAS. SOS activates RAS nucleotide exchange from the inactive form (bound to GDP) to an active form (bound to GTP).
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"P16234-1",
"P01112-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-186834",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186834"
}
]
},
{
"id": "R-HSA-2316434",
"name": "PI3K phosphorylates PIP2 to PIP3",
"equation": "",
"summary": "A number of different extracellular signals converge on PI3K activation. PI3K can be activated downstream of receptor tyrosine kinases (RTKs) such as FGFR (Ong et al. 2001, Eswarakumar et al. 2005), KIT (Chian et al. 2001, Ronnstrand 2004, Reber et al. 2006), PDGF (Coughlin et al. 1989, Fantl et al. 1992, Heldin et al. 1998), insulin receptor IGF1R (Hadari et al. 1992, Kooijman et al. 1995), and EGFR and its family members (Rodrigues et al. 2000, Jackson et al. 2004, Kainulainen et al. 2000, Junttila et al. 2009). Other proteins, such as CD28 (Pages et al. 1996, Koyasu 2003, Kane and Weiss, 2003) and TRAT1 (Bruyns et al. 1998, Koyasu 2003, Kolsch et al. 2006), can also trigger PI3K activity.
In unstimulated cells, PI3K class IA exists as an inactive heterodimer of a p85 regulatory subunit (encoded by PIK3R1, PIK3R2 or PIK3R3) and a p110 catalytic subunit (encoded by PIK3CA, PIK3CB or PIK3CD). Binding of the iSH2 domain of the p85 regulatory subunit to the ABD and C2 domains of the p110 catalytic subunit both stabilizes p110 and inhibits its catalytic activity. This inhibition is relieved when the SH2 domains of p85 bind phosphorylated tyrosines on activated RTKs or their adaptor proteins. Binding to membrane-associated receptors brings activated PI3K in proximity to its membrane-localized substrate, PIP2 (Mandelker et al. 2009, Burke et al. 2011).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P22455-1",
"P16234-1",
"P42336-1",
"Q9NWZ3-1",
"P00533-1",
"P04626-1",
"P06241-1",
"P10721-1",
"P12931-1",
"P63000-1",
"P06239-1",
"Q06124-2",
"Q9Y4K3-1",
"P36888-1",
"P09619-1",
"P42338-1",
"O00329-1",
"P08581-1",
"Q01638-1",
"P51617-1"
],
"evidence": [
{
"id": "R-HSA-2316434",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2316434"
}
]
},
{
"id": "R-HSA-2400009",
"name": "PI3K inhibitors block PI3K catalytic activity",
"equation": "",
"summary": "A variety of inhibitors capable of blocking the phosphoinositide kinase activity of PI3K have been developed. These inhibitors display differential selectivity and inhibit kinase activity of their substrates by distinct mechanisms. For example, the first-generation PI3K inhibitor wortmannin (Wymann et al. 1996) covalently and irreversibly binds all classes of PI3K enzymes, as well as other kinases including mTOR, at a residue critical for catalytic activity. Although wortmannin is precluded from in vivo and clinical use due to its toxicity, it has proven to be a useful tool for in vitro laboratory studies. Newer inhibitors, such as BEZ235, are currently being investigated in Phase I clinical trials. BEZ235 is a dual pan-class I PI3K/mTOR inhibitor that blocks kinase activity by binding competitively to the ATP-binding pocket of these enzymes (Serra et al. 2008, Maira et al. 2008). BGT226 (Chang et al. 2011) and XL765 (Prasad et al. 2011) also inhibits both PI3K class I enzymes and mTOR. Other inhibitors in clinical trials, such as BKM120 (Maira et al. 2012), GDC0941 (Folkes et al. 2008, Junttila et al. 2009) and XL147 (Chakrabarty et al. 2012), are specific for class I PI3Ks and exhibit no activity against mTOR. Current research aims to identify isoform-specific PI3K inhibitors. Small molecule inhibitors that selectively inhibit PIK3CA (p110alpha), e.g. PIK-75 and A66, were used to study the role of p110alpha in signaling and growth of tumor cells (Knight et al. 2006, Sun et al. 2010, Jamieson et al. 2011, Utermark et al. 2012). The PIK3CB (p110beta) specific inhibitor TGX221 has been used in in vitro models of vascular injury (Jackson et al. 2005), and the TGX221 derivative KIN-193 has been shown to block AKT activity and tumor growth in mice with p110beta activation or PTEN loss (Ni et al. 2012). CAL-101 is a PIK3CD (p110delta) specific inhibitor that is being clinically investigated as a therapeutic for lymphoid malignancies (Herman et al. 2010). It is hoped that, in the future, more specific inhibitors, such as those targeting selective PI3K isoforms, will provide optimum treatment while minimizing unwanted side effects. For a recent review, please refer to Liu et al. 2009.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P22455-1",
"P16234-1",
"P42336-1",
"P00533-1",
"P04626-1",
"P06241-1",
"P10721-1",
"P12931-1",
"P63000-1",
"P06239-1",
"Q06124-2",
"P36888-1",
"P09619-1",
"P42338-1",
"O00329-1",
"P08581-1"
],
"evidence": [
{
"id": "R-HSA-2400009",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2400009"
}
]
},
{
"id": "R-HSA-380780",
"name": "Activation of Src",
"equation": "",
"summary": "Activation of Src kinases involves displacement of Tyr527 from the SH2 domain and phosphorylation of other tyrosine residues in the kinase domain. Src activation appears to be important for the mitogenic response of PDGF.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P12931-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-380780",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380780"
}
]
},
{
"id": "R-HSA-380782",
"name": "STAT binds to the active receptor",
"equation": "",
"summary": "Among the seven members of the STAT family, STAT1, STAT3, STAT5 alpha and -beta, and STAT6 have been shown to bind to the activated PDGF beta-receptor (PDGFRB) and to be phosphorylated after PDGF stimulation; binding also occurs to the alpha-receptor (PDGFRA), albeit only weakly.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-380782",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380782"
}
]
},
{
"id": "R-HSA-382052",
"name": "p130Cas and C3G bind PDGFR bound Crk",
"equation": "",
"summary": "The presence of both SH2 and SH3 domains in Crk proteins is of crucial importance for their function as adaptor molecules. Crk forms complex with Cas, an SH3 domain-containing docking protein which has been shown to be phosphorylated after PDGF-stimulation of cells, and C3G, a nucleotide exchange protein which has been linked to the activation of JNK.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-382052",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382052"
}
]
},
{
"id": "R-HSA-382055",
"name": "Grb7 binds to the active PDGF receptor",
"equation": "",
"summary": "Grb7 an adapter protein contains a single SH2 domain, a pleckstrin homology (PH) domain, and a proline-rich region. Similar to Grb2, Grb7 interacts with phosphorylated tyrosines in pYXNX motifs, including Tyr716 and Tyr775 of the PDGF beta-receptor.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-382055",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382055"
}
]
},
{
"id": "R-HSA-382056",
"name": "Crk binds to the active PDGF receptor",
"equation": "",
"summary": "Crk family of adaptor molecules consists of CrkI with one SH2 and one SH3 domains and CrkII and CrkL with one SH2 and two SH3 domains each. They bind to Tyr762 of the PDGF alpha-receptor and represent the only known SH2-domain containing molecule which binds with significantly higher affinity to the alpha-receptor than to the beta-receptor.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-382056",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382056"
}
]
},
{
"id": "R-HSA-382058",
"name": "Nck binds to the active PDGF receptor",
"equation": "",
"summary": "Nck is a widely expressed protein consisting exclusively of SH2 and SH3 domains. With its SH2 doamin Nck interacts with Tyr571 of the PDGF beta-receptor and it also interacts with the alpha-receptor, but the sites of interaction have not been determined. Nck is involved in the activation of the JNK serine/threonine kinase through interaction with the serine/threonine kinases PAK1 and NIK.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-382058",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382058"
}
]
},
{
"id": "R-HSA-389086",
"name": "Autophosphorylation of PDGF alpha/beta receptors",
"equation": "",
"summary": "Receptor dimerisation is key event in PDGF receptor activation. The intracellular regions of the receptors are juxtaposed which allows trans-phosphorylation between the two receptors in the complex.
The autophosphorylation site Y857 located inside the kinase domain of beta-receptor (PDGFRB) is important for activation of the kinase. This tyrosine is conserved in the alpha-receptor (PDGFRA), where it corresponsds to Y849, and in almost all other tyrosine kinase receptors. The other known autophosphorylation sites are localized outside the kinase domains of the alpha- and beta- receptors; of the 15( beta) or 16 (alpha) tyrosine residues in the intracellular, non-catalytic part of the beta- or alpha receptor, 11 and 10, respectively, are autophosphorylation sites (reviewed in Heldin et al, 1998).
PDGFRA and PDGFRB activity can be inhibited by binding to type I and type II tyrosine kinase inhibitors (reviewed in Roskoski, 2018). Type I inhibitors such as crenolanib, avripatinib and pazopanib, bind to the active conformation of the receptor and inhibit trans-autophosphorylation (Ip et al, 2018; Evans et al, 2017; Davids et al, 2009; reviewed in Roskoski, 2018; Klug et al, 2018; Papadopoulos and Lennartsson, 2016).
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [
"R-HSA-389077"
],
"output_participant_list": [
"R-HSA-389076"
],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-389086",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389086"
}
]
},
{
"id": "R-HSA-5672965",
"name": "RAS GEFs promote RAS nucleotide exchange",
"equation": "",
"summary": "The human genome is predicted to encode 27 RAS guanine nucleotide exchange factors (GEFs) that promote the exchange of GDP for GTP on membrane-associated RAS in response to RAS-MAPK pathway activation by growth factors, hormones, cytokines and other stimuli (reviewed in Cherfils and Zeghouf, 2013; Cargnello and Roux, 2011). Nucleotide exchange stimulates a conformational change in RAS to facilitate its interaction with RAF, ultimately promoting the phosphorylation of downstream effectors MAPK3 and MAPK1 (also known as ERK1 and ERK2) (reviewed in Cseh et al, 2014; Vigil et al, 2010).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"P07949-1",
"P22455-1",
"P52333-1",
"P16234-1",
"O60674-1",
"Q9UQM7-1",
"P00533-1",
"P04626-1",
"P06241-1",
"P10721-1",
"Q13554-1",
"Q02763-1",
"P01112-1",
"P36888-1",
"P09619-1",
"P18433-5",
"Q05397-1",
"Q13557-1",
"P08581-1",
"P23458-1",
"Q13555-1"
],
"evidence": [
{
"id": "R-HSA-5672965",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5672965"
}
]
},
{
"id": "R-HSA-8864036",
"name": "PTPN12 dephosphorylates PDGFRB at Y1021",
"equation": "",
"summary": "Protein tyrosine phosphatase PTNP12 dephosphorylates activated PDFRB (PDGF receptor beta) at tyrosine residue Y1021, which contributes to the tumor suppressor role of PTPN12 in triple negative breast cancer in addition to PTPN12-mediated dephosphorylation of ERBB2 (HER2) at Y1248 (Sun et al. 2011).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1",
"Q05209-1"
],
"evidence": [
{
"id": "R-HSA-8864036",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8864036"
}
]
},
{
"id": "R-HSA-9674095",
"name": "PDGFRs bind type II TKI",
"equation": "",
"summary": "Wild-type PDGFRA and PDGFRB can be bound and inhibited by class II tyrosine kinase inhibitors including imatinib, nilotinib, sorafenib, sunitinib, ripretinib and others (Lombardo et al, 2004; Chen et la, 2006; Matsui et al, 2008; Liu et al, 2011; Hilberg et al, 2008; Hilberg et al 2017; Wilhelm et al 2002; Strumberg et al, 2005; Mendel et al, 2003; Roskoski, 2007; Smith et al, 2019). Type II inhibitors bind to the inactive conformation of the kinase and prevent its activation (reviewed in Roskoski, 2018; Papadopoulos and Lennartsson, 2018).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P16234-1",
"P09619-1"
],
"evidence": [
{
"id": "R-HSA-9674095",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9674095"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-389074",
"participant_name": "Phospho PDGF beta receptor: PDGF chain B homodimer [plasma membrane]",
"crossref": [
{
"id": "CPX-2882",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-389076",
"participant_name": "Phospho PDGF alpha-beta dimer:PDGF AB or BB dimers [plasma membrane]",
"crossref": [
{
"id": "CPX-2892",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-389077",
"participant_name": "PDGF alpha/beta:PDGF AB and BB dimers [plasma membrane]",
"crossref": [
{
"id": "CPX-2892",
"database": "ComplexPortal",
"url": ""
}
]
},
{
"participant_id": "R-HSA-389078",
"participant_name": "PDGF beta receptor:PDGF chain B homodimer [plasma membrane]",
"crossref": [
{
"id": "CPX-2882",
"database": "ComplexPortal",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
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"gene_name": "Flt3",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A0G2JW59",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JW59"
}
]
},
{
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}
]
}
]
},
{
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{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A0G2K6M9",
"database": "UniProtKB",
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}
]
},
{
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{
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"database": "UniProtKB",
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}
]
}
]
},
{
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{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A0R4J8U1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0R4J8U1"
}
]
},
{
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"activity": "",
"evidence": [
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"id": "A0A0R4J8U1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0R4J8U1"
}
]
}
]
},
{
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"gene_name": "Dyrk1b",
"activity": [
{
"ec_number": "2.7.12.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A8I5ZP97",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZP97"
}
]
},
{
"ec_number": "2.7.12.1",
"activity": "",
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{
"id": "A0A8I5ZP97",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZP97"
}
]
}
]
},
{
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"gene_name": "Ephb3",
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{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "A0A8I5ZVE3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZVE3"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "A0A8I5ZVE3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZVE3"
}
]
}
]
},
{
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"gene_name": "Mst1r",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A8I6A5T6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6A5T6"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "A0A8I6A5T6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6A5T6"
}
]
}
]
},
{
"uniprot_ac": "A0A8I6AM23",
"gene_name": "Jak1",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A8I6AM23",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AM23"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "A0A8I6AM23",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AM23"
}
]
}
]
},
{
"uniprot_ac": "A0A8I6AWX7",
"gene_name": "Dyrk4",
"activity": [
{
"ec_number": "2.7.12.1",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "A0A8I6AWX7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AWX7"
}
]
},
{
"ec_number": "2.7.12.1",
"activity": "",
"evidence": [
{
"id": "A0A8I6AWX7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AWX7"
}
]
}
]
},
{
"uniprot_ac": "A0A8I6GCV6",
"gene_name": "Ltk",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "A0A8I6GCV6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6GCV6"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
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{
"id": "A0A8I6GCV6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6GCV6"
}
]
}
]
},
{
"uniprot_ac": "B1WC09",
"gene_name": "Ddr2",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "B1WC09",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B1WC09"
}
]
},
{
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"database": "UniProtKB",
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}
]
}
]
},
{
"uniprot_ac": "B2RYC7",
"gene_name": "Tec",
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{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "B2RYC7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RYC7"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
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"database": "UniProtKB",
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}
]
}
]
},
{
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"gene_name": "Tie1",
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{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "B5DFD6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B5DFD6"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "B5DFD6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B5DFD6"
}
]
}
]
},
{
"uniprot_ac": "D3ZBN3",
"gene_name": "Epha2",
"activity": [
{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "D3ZBN3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZBN3"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
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"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZBN3"
}
]
}
]
},
{
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"gene_name": "Tek",
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{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "D3ZCD0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZCD0"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
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{
"id": "D3ZCD0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZCD0"
}
]
}
]
},
{
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"gene_name": "Tyk2",
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{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "D3ZD03",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZD03"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "D3ZD03",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZD03"
}
]
}
]
},
{
"uniprot_ac": "D3ZDH4",
"gene_name": "Epha1",
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{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "D3ZDH4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZDH4"
}
]
},
{
"ec_number": "2.7.10.1",
"activity": "",
"evidence": [
{
"id": "D3ZDH4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZDH4"
}
]
}
]
},
{
"uniprot_ac": "D3ZDS3",
"gene_name": "Ptk6",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "D3ZDS3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZDS3"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "D3ZDS3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZDS3"
}
]
}
]
},
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