{
"uniprot_canonical_ac": "P04629-1",
"uniprot_ac": "P04629",
"uniprot_id": "NTRK1_HUMAN",
"mass": {
"chemical_mass": 87497.0,
"monoisotopic_mass": 87497.0
},
"refseq": {
"ac": "NP_001007793",
"name": "high affinity nerve growth factor receptor isoform 3",
"summary": "This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
},
"gene_names": [
{
"name": "NTRK1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P04629",
"id": "P04629"
},
{
"name": "MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"id": "NP_001007793"
},
{
"name": "MTC",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04629",
"id": "P04629"
},
{
"name": "NTRK1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"id": "NP_001007793"
},
{
"name": "TRKA",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04629",
"id": "P04629"
},
{
"name": "TRK",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04629",
"id": "P04629"
}
],
"protein_names": [
{
"name": "High affinity nerve growth factor receptor",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P04629"
},
{
"name": "2.7.10.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Neurotrophic tyrosine kinase receptor type 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Oncogene TRK; tyrosine kinase receptor A; high affinity nerve growth factor receptor; TRK1-transforming tyrosine kinase protein; gp140trk; tropomyosin-related kinase A; neurotrophic tyrosine kinase, receptor, type 1; tropomyosin receptor kinase A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"id": "NP_001007793"
},
{
"name": "TRK1-transforming tyrosine kinase protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Trk-A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Tropomyosin-related kinase A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Tyrosine kinase receptor A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "Tyrosine kinase receptor",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "gp140trk",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
},
{
"name": "high affinity nerve growth factor receptor isoform 3",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"id": "NP_001007793"
},
{
"name": "p140-TrkA",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04629"
}
],
"function": [
{
"annotation": "Japanese Society of Medical Oncology/Japan Society of Clinical Oncology/Japanese Society of Pediatric Hematology/Oncology-led clinical recommendations on the diagnosis and use of tropomyosin receptor kinase inhibitors in adult and pediatric patients with neurotrophic receptor tyrosine kinase fusion-positive advanced solid tumors.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
},
{
"database": "PubMed",
"id": "37212982",
"url": "https://glygen.org/publication/PubMed/37212982"
}
]
},
{
"annotation": "Pan-TRK immunohistochemistry in gynaecological mesenchymal tumours: diagnostic implications and pitfalls.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
},
{
"database": "PubMed",
"id": "37988282",
"url": "https://glygen.org/publication/PubMed/37988282"
}
]
},
{
"annotation": "Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand (PubMed:1850821, PubMed:1849459, PubMed:1281417, PubMed:8325889, PubMed:15488758, PubMed:22649032, PubMed:17196528, PubMed:27445338). Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:1281417). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades driving cell survival and differentiation. Through SHC1 and FRS2 activates a GRB2-Ras-MAPK cascade that regulates cell differentiation and survival. Through PLCG1 controls NF-Kappa-B activation and the transcription of genes involved in cell survival. Through SHC1 and SH2B1 controls a Ras-PI3 kinase-AKT1 signaling cascade that is also regulating survival. In absence of ligand and activation, may promote cell death, making the survival of neurons dependent on trophic factors.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629#function"
},
{
"database": "UniProtKB",
"id": "Q3UFB7",
"url": "https://www.uniprot.org/uniprot/Q3UFB7#function"
},
{
"database": "PubMed",
"id": "8155326",
"url": "https://glygen.org/publication/PubMed/8155326"
},
{
"database": "PubMed",
"id": "15488758",
"url": "https://glygen.org/publication/PubMed/15488758"
},
{
"database": "UniProtKB",
"id": "P35739",
"url": "https://www.uniprot.org/uniprot/P35739#function"
},
{
"database": "PubMed",
"id": "27676246",
"url": "https://glygen.org/publication/PubMed/27676246"
},
{
"database": "PubMed",
"id": "17196528",
"url": "https://glygen.org/publication/PubMed/17196528"
},
{
"database": "PubMed",
"id": "1850821",
"url": "https://glygen.org/publication/PubMed/1850821"
},
{
"database": "PubMed",
"id": "27445338",
"url": "https://glygen.org/publication/PubMed/27445338"
},
{
"database": "PubMed",
"id": "11244088",
"url": "https://glygen.org/publication/PubMed/11244088"
},
{
"database": "PubMed",
"id": "22649032",
"url": "https://glygen.org/publication/PubMed/22649032"
},
{
"database": "PubMed",
"id": "1281417",
"url": "https://glygen.org/publication/PubMed/1281417"
},
{
"database": "PubMed",
"id": "8325889",
"url": "https://glygen.org/publication/PubMed/8325889"
},
{
"database": "PubMed",
"id": "1849459",
"url": "https://glygen.org/publication/PubMed/1849459"
}
]
},
{
"annotation": "Resistant to NGF, it constitutively activates AKT1 and NF-kappa-B and is unable to activate the Ras-MAPK signaling cascade. Antagonizes the anti-proliferative NGF-NTRK1 signaling that promotes neuronal precursors differentiation. Isoform TrkA-III promotes angiogenesis and has oncogenic activity when overexpressed.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629#function"
},
{
"database": "PubMed",
"id": "15488758",
"url": "https://glygen.org/publication/PubMed/15488758"
}
]
},
{
"annotation": "This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
}
]
},
{
"annotation": "Transcriptomics reveals the effects of NTRK1 on endoplasmic reticulum stress response-associated genes in human neuronal cell lines. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
},
{
"database": "PubMed",
"id": "37070091",
"url": "https://glygen.org/publication/PubMed/37070091"
}
]
},
{
"annotation": "TrkA promotes MDM2-mediated AGPS ubiquitination and degradation to trigger prostate cancer progression. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793"
},
{
"database": "PubMed",
"id": "38200609",
"url": "https://glygen.org/publication/PubMed/38200609"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0070146",
"recommended_name": {
"id": "DOID:0070146",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070146",
"name": "hereditary sensory neuropathy type 4",
"description": "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."
},
"synonyms": [
{
"id": "DOID:0070146",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070146",
"name": "hereditary sensory neuropathy type IV",
"description": ""
},
{
"id": "DOID:0070146",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070146",
"name": "insensitivity to pain, congenital, with anhidrosis",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory and autonomic neuropathy type 4",
"description": "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever."
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "CIP-anhidrosis syndrome",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "HSAN4",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "NTRK1 hereditary sensory and autonomic neuropathy",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "congenital insensitivity to pain with anhidrosis",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "congenital insensitivity to pain-anhidrosis syndrome",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory and autonomic neuropathy type IV",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory neuropathy type IV",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "insensitivity to pain, congenital, with anhidrosis",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "CIPA",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "HSAN 4",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "HSAN IV",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "HSNAN4",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "familial dysautonomia, type 2",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory and autonomic neuropathy 4",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "hereditary sensory neuropathy type 4",
"description": ""
},
{
"id": "MONDO:0009746",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009746",
"name": "neuropathy, congenital sensory, with anhidrosis",
"description": ""
},
{
"id": "MIM:256800",
"resource": "MIM",
"url": "https://www.omim.org/entry/256800",
"name": "Congenital insensitivity to pain with anhidrosis",
"description": "Congenital insensitivity to pain with anhidrosis"
}
],
"evidence": [
{
"id": "256800",
"database": "MIM",
"url": "https://www.omim.org/entry/256800"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "P04629",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04629"
}
],
"glycoeffect": [],
"start_pos": 107,
"end_pos": 107,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "A",
"sequence_mut": "V",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "1",
"chr_pos": "156864760",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "A107",
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
},
{
"disease_id": "DOID:1324",
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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},
"synonyms": [
{
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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"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",
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"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": ""
}
]
}
],
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"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs763421613",
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},
{
"id": "rs763421613",
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}
],
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],
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"end_pos": 121,
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"chr_id": "1",
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"alt_nt": "null",
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"germline"
]
},
{
"evidence": [
{
"id": "rs1228130947",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228130947"
},
{
"id": "rs1228130947",
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}
],
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"o-glyco-site-loss"
],
"start_pos": 123,
"end_pos": 123,
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLC).",
"chr_id": "1",
"chr_pos": "156866918",
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"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S123",
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"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P04629",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04629"
}
],
"glycoeffect": [],
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"end_pos": 169,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "G",
"sequence_mut": "R",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5). In dbSNP: rs367836863.",
"chr_id": "1",
"chr_pos": "156868180",
"ref_nt": "G",
"alt_nt": "A",
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"site_lbl": "G169",
"disease": [
{
"disease_id": "DOID:1115",
"recommended_name": {
"id": "DOID:1115",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1115",
"name": "sarcoma",
"description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."
},
"synonyms": [
{
"id": "DOID:1115",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1115",
"name": "connective and soft tissue neoplasm",
"description": ""
},
{
"id": "DOID:1115",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1115",
"name": "tumor of soft tissue and skeleton",
"description": ""
}
]
},
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
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},
"synonyms": [
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "BT - Brain tumour",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "adult malignant brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain neoplasm, adult",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain neoplasm",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of Brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant tumor of adult brain",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain neoplasm",
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},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary brain tumor",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "primary malignant neoplasm of brain",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "tumor of the Brain",
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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",
"description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
},
"synonyms": [
{
"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": ""
}
]
},
{
"disease_id": "DOID:11934",
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"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
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},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
},
{
"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": [
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
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},
{
"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": ""
}
]
}
],
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"disease"
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},
{
"evidence": [
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"database": "dbSNP",
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},
{
"id": "rs531080009",
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"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs531080009"
},
{
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{
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{
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},
{
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{
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{
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{
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{
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},
{
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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": "MONDO:0009746",
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},
{
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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:4159",
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},
{
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},
{
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},
{
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{
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
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},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
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},
{
"id": "DOID:10283",
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},
{
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{
"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"
}
]
},
{
"disease_id": "DOID:1612",
"recommended_name": {
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"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
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"synonyms": [
{
"id": "DOID:1612",
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"name": "breast tumor",
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
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},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
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},
{
"id": "DOID:1612",
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"url": "http://disease-ontology.org/term/DOID:1612",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
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{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
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},
{
"id": "MONDO:0016419",
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"name": "familial cancer of breast",
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},
{
"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",
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"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"
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]
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{
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{
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{
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{
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"n-glyco-sequon-loss"
],
"start_pos": 67,
"end_pos": 67,
"sequence_org": "N",
"sequence_mut": "D",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->DLT).",
"chr_id": "1",
"chr_pos": "156866911",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N67",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1488206131",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488206131"
},
{
"id": "rs1488206131",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1488206131#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 97,
"end_pos": 97,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).",
"chr_id": "1",
"chr_pos": "156864729",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T97",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 496,
"end_pos": 496,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of interaction with SHC1 and altered phosphorylation of SHC1. Altered neurite outgrowth and altered activation of the MAPK pathway; when associated with F-791.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "8155326",
"url": "https://glygen.org/publication/PubMed/8155326"
}
]
},
{
"start_pos": 540,
"end_pos": 541,
"sequence_org": "LV",
"sequence_mut": "AA",
"comment": "Abolishes interaction with GGA3.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "26446845",
"url": "https://glygen.org/publication/PubMed/26446845"
}
]
},
{
"start_pos": 544,
"end_pos": 544,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "No effect on interaction with GGA3.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "26446845",
"url": "https://glygen.org/publication/PubMed/26446845"
}
]
},
{
"start_pos": 544,
"end_pos": 544,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "8155326",
"url": "https://glygen.org/publication/PubMed/8155326"
},
{
"database": "PubMed",
"id": "1281417",
"url": "https://glygen.org/publication/PubMed/1281417"
}
]
},
{
"start_pos": 610,
"end_pos": 611,
"sequence_org": "LL",
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"comment": "No effect on interaction with GGA3.",
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{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "26446845",
"url": "https://glygen.org/publication/PubMed/26446845"
}
]
},
{
"start_pos": 791,
"end_pos": 791,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Loss of interaction with PLCG1 and altered phosphorylation of PLCG1. Altered neurite outgrowth and altered activation of the MAPK pathway; when associated with F-496.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "8155326",
"url": "https://glygen.org/publication/PubMed/8155326"
},
{
"database": "PubMed",
"id": "7510697",
"url": "https://glygen.org/publication/PubMed/7510697"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "58.44",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "41.27",
"present": "ABSENT",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
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"score": "56.84",
"present": "MEDIUM",
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{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "49.96",
"present": "LOW",
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{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
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"score": "60.06",
"present": "MEDIUM",
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{
"database": "Bgee",
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]
},
{
"tissue": {
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"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
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"score": "60.13",
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{
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"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
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]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
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"score": "47.76",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "53.51",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
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"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "60.99",
"present": "MEDIUM",
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{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "47.6",
"present": "LOW",
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
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{
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"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Prostate gland",
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"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "74.95",
"present": "HIGH",
"evidence": [
{
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
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"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "63.79",
"present": "MEDIUM",
"evidence": [
{
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"id": "ENSG00000198400",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000198400"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
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{
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],
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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:10283",
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},
{
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},
{
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},
{
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
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},
{
"id": "MONDO:0012741",
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"name": "prostate cancer, hereditary, 12",
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},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
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},
{
"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": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
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{
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"recommended_name": {
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"resource": "Disease Ontology",
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"name": "stomach cancer",
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},
"synonyms": [
{
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"description": ""
},
{
"id": "DOID:10534",
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"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
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"id": "P04629",
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}
],
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{
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},
"synonyms": [
{
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"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
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],
"disease": [
{
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},
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"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"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": "No",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"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": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"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": "No",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"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": "No",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P04629",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04629"
}
],
"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",
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},
{
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},
{
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},
{
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{
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{
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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": "R-HSA-187024",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187024",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-187042",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187042",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-187706",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187706",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-198203",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198203",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-198745",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198745",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_001007793",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007793",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "10596",
"url": "https://www.rhea-db.org/rhea/10596",
"database": "Rhea",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "A0A6Q8PF65",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PF65",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A6Q8PF65-1",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PF65-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A6Q8PGU5",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PGU5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A6Q8PGU5-1",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PGU5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A6Q8PHG5",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PHG5",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A6Q8PHG5-1",
"url": "https://www.uniprot.org/uniprot/A0A6Q8PHG5-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PQG0",
"url": "https://www.uniprot.org/uniprot/E9PQG0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "E9PQG0-1",
"url": "https://www.uniprot.org/uniprot/E9PQG0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "J3KP20",
"url": "https://www.uniprot.org/uniprot/J3KP20",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "J3KP20-1",
"url": "https://www.uniprot.org/uniprot/J3KP20-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P04629-1",
"url": "https://www.uniprot.org/uniprot/P04629-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P04629-2",
"url": "https://www.uniprot.org/uniprot/P04629-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P04629-3",
"url": "https://www.uniprot.org/uniprot/P04629-3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P04629-4",
"url": "https://www.uniprot.org/uniprot/P04629-4",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPVSFSPVDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 796,
"header": "sp|P04629-1|NTRK1_HUMAN Isoform 1 of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=4 CANONICAL=P04629-1"
},
"isoforms": [
{
"isoform_ac": "A0A6Q8PF65-1",
"url": "",
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLAQIHTSAKGASGRSRTPGFWLGLHFPGTH",
"length": 149,
"header": "tr|A0A6Q8PF65-1|NTRK1_HUMAN Computationally mapped isoform of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=1 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156865159,
"end_pos": 156860935,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000675461.1",
"url": "https://www.ensembl.org/id/ENST00000675461.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000501668.1",
"url": "https://www.ensembl.org/id/ENSP00000501668.1"
}
]
}
},
{
"isoform_ac": "A0A6Q8PGU5-1",
"url": "",
"sequence": {
"sequence": "XDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTET",
"length": 59,
"header": "tr|A0A6Q8PGU5-1|A0A6Q8PGU5_HUMAN Computationally mapped isoform of Neurotrophic receptor tyrosine kinase 1 OS=Homo sapiens OX=9606 GN=NTRK1 PE=4 SV=1 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156880452,
"end_pos": 156879349,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000531606.2",
"url": "https://www.ensembl.org/id/ENST00000531606.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000502411.1",
"url": "https://www.ensembl.org/id/ENSP00000502411.1"
}
]
}
},
{
"isoform_ac": "A0A6Q8PHG5-1",
"url": "",
"sequence": {
"sequence": "MQLRAARSRCTNLLAASYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 736,
"header": "tr|A0A6Q8PHG5-1|A0A6Q8PHG5_HUMAN Computationally mapped isoform of Tyrosine-protein kinase receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=1 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156881639,
"end_pos": 156842144,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000392302.7",
"url": "https://www.ensembl.org/id/ENST00000392302.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000376120.3",
"url": "https://www.ensembl.org/id/ENSP00000376120.3"
}
]
}
},
{
"isoform_ac": "E9PQG0-1",
"url": "",
"sequence": {
"sequence": "MQLRAARSRCTNLLAASYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMSRPVCSCTRRWRCTTGASPSLWMGSRHRLCAGSSMAPCSMRPASSSLSSWSRQPMRPCGTGVCASTSPPTSTTATTRCWLPTPSARPPPPSWLPSWTTLSSSTPRTPSLTLTAHLETRWRRRTKHLLGSRWLWAWPSLPASSFLRCSLCSTNVDGETSLGSTARLCWLQRMGWPCPCIS",
"length": 364,
"header": "tr|E9PQG0-1|E9PQG0_HUMAN Computationally mapped isoform of Neurotrophic receptor tyrosine kinase 1 OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=2 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156875570,
"end_pos": 156842144,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000497019.7",
"url": "https://www.ensembl.org/id/ENST00000497019.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000436804.2",
"url": "https://www.ensembl.org/id/ENSP00000436804.2"
}
]
}
},
{
"isoform_ac": "J3KP20-1",
"url": "",
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDASPSGVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 793,
"header": "tr|J3KP20-1|NTRK1_HUMAN Computationally mapped isoform of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=1 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156881639,
"end_pos": 156860935,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000358660.3",
"url": "https://www.ensembl.org/id/ENST00000358660.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000351486.3",
"url": "https://www.ensembl.org/id/ENSP00000351486.3"
}
]
}
},
{
"isoform_ac": "P04629-1",
"url": "",
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPVSFSPVDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 796,
"header": "sp|P04629-1|NTRK1_HUMAN Isoform 1 of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=4 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156881639,
"end_pos": 156860935,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000524377.7",
"url": "https://www.ensembl.org/id/ENST00000524377.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000431418.1",
"url": "https://www.ensembl.org/id/ENSP00000431418.1"
}
]
}
},
{
"isoform_ac": "P04629-2",
"url": "",
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 790,
"header": "sp|P04629-2|NTRK1_HUMAN Isoform 2 of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=4 CANONICAL=P04629-1"
},
"locus": {
"chromosome": "1",
"start_pos": 156881639,
"end_pos": 156860935,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000368196.7",
"url": "https://www.ensembl.org/id/ENST00000368196.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000357179.3",
"url": "https://www.ensembl.org/id/ENSP00000357179.3"
}
]
}
},
{
"isoform_ac": "P04629-3",
"url": "",
"sequence": {
"sequence": "MKEAALICLAPSVPPILTVKSWDTMQLRAARSRCTNLLAASYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMKSGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 760,
"header": "sp|P04629-3|NTRK1_HUMAN Isoform 3 of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=4 CANONICAL=P04629-1"
},
"locus": {}
},
{
"isoform_ac": "P04629-4",
"url": "",
"sequence": {
"sequence": "MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRLNLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQGPLAHMPNASCVPASVQLHTAVEMHHWCIPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYTLLAANPFGQASASIMAAFMDNPFEFNPEDPIPDTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTEGKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKMLVAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRFLRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEIFTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVYLDVLG",
"length": 698,
"header": "sp|P04629-4|NTRK1_HUMAN Isoform 4 of High affinity nerve growth factor receptor OS=Homo sapiens OX=9606 GN=NTRK1 PE=1 SV=4 CANONICAL=P04629-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 121,
"start_aa": "Asn",
"end_pos": 121,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn121",
"evidence": [
{
"id": "P04629",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P04629#ptm_processing"
},
{
"id": "17196528",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/17196528"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 188,
"start_aa": "Asn",
"end_pos": 188,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn188",
"evidence": [
{
"id": "P04629",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P04629#ptm_processing"
},
{
"id": "17196528",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/17196528"
},
{
"id": "2IFG",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/2IFG"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 202,
"start_aa": "Asn",
"end_pos": 202,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn202",
"evidence": [
{
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}
]
},
{
"title": "Interactions between Src homology (SH) 2/SH3 adapter proteins and the guanylnucleotide exchange factor SOS are differentially regulated by insulin and epidermal growth factor.",
"journal": "The Journal of biological chemistry",
"date": "1996",
"authors": "Okada S, Pessin JE",
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"id": "R-HSA-167044",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167044"
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"type": "PubMed",
"id": "8810325",
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}
]
},
{
"title": "Autophosphorylation of activation loop tyrosines regulates signaling by the TRK nerve growth factor receptor.",
"journal": "The Journal of biological chemistry",
"date": "1997",
"authors": "Cunningham ME, Stephens RM, Kaplan DR, Greene LA",
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},
{
"title": "Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.",
"journal": "Jpn. J. Hum. Genet.",
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}
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},
{
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{
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{
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},
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}
],
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},
{
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],
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}
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],
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},
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{
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},
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},
{
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{
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},
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},
{
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],
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},
{
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},
{
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],
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},
{
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},
{
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},
{
"name": "negative regulation of apoptotic process",
"id": "GO:0043066",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of GTPase activity",
"id": "GO:0043547",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of NF-kappaB transcription factor activity",
"id": "GO:0051092",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051092",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "neuron apoptotic process",
"id": "GO:0051402",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"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": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"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": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "cellular response to nerve growth factor stimulus",
"id": "GO:1990090",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "response to nutrient levels",
"id": "GO:0031667",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of angiogenesis",
"id": "GO:0045766",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "detection of temperature stimulus involved in sensory perception of pain",
"id": "GO:0050965",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of synaptic transmission, glutamatergic",
"id": "GO:0051968",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "negative regulation of neuron apoptotic process",
"id": "GO:0043524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "protein autophosphorylation",
"id": "GO:0046777",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "circadian rhythm",
"id": "GO:0007623",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of synapse assembly",
"id": "GO:0051965",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "B cell differentiation",
"id": "GO:0030183",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "detection of mechanical stimulus involved in sensory perception of pain",
"id": "GO:0050966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "response to axon injury",
"id": "GO:0048678",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "response to electrical stimulus",
"id": "GO:0051602",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "neurotrophin TRK receptor signaling pathway",
"id": "GO:0048011",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "response to xenobiotic stimulus",
"id": "GO:0009410",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "neuron development",
"id": "GO:0048666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "sympathetic nervous system development",
"id": "GO:0048485",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "axon guidance",
"id": "GO:0007411",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "axonogenesis involved in innervation",
"id": "GO:0060385",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "response to hydrostatic pressure",
"id": "GO:0051599",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051599",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "programmed cell death involved in cell development",
"id": "GO:0010623",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010623",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "cellular response to nicotine",
"id": "GO:0071316",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "positive regulation of programmed cell death",
"id": "GO:0043068",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "Sertoli cell development",
"id": "GO:0060009",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060009",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
},
{
"name": "nerve growth factor signaling pathway",
"id": "GO:0038180",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 121,
"end_pos": 123,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 188,
"end_pos": 190,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 202,
"end_pos": 204,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 253,
"end_pos": 255,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 262,
"end_pos": 264,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 281,
"end_pos": 283,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 318,
"end_pos": 320,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 323,
"end_pos": 325,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 338,
"end_pos": 340,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 358,
"end_pos": 360,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 401,
"end_pos": 403,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 67,
"end_pos": 69,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 95,
"end_pos": 97,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Ligand-mediated autophosphorylation (PubMed:2927393, PubMed:1281417, PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889, PubMed:27676246, PubMed:28177573). Interaction with SQSTM1 is phosphotyrosine-dependent. Autophosphorylation at Tyr-496 mediates interaction and phosphorylation of SHC1 (PubMed:15488758, PubMed:7510697, PubMed:8155326, PubMed:8325889).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "8155326",
"url": "https://glygen.org/publication/PubMed/8155326"
},
{
"database": "PubMed",
"id": "15488758",
"url": "https://glygen.org/publication/PubMed/15488758"
},
{
"database": "PubMed",
"id": "27676246",
"url": "https://glygen.org/publication/PubMed/27676246"
},
{
"database": "PubMed",
"id": "28177573",
"url": "https://glygen.org/publication/PubMed/28177573"
},
{
"database": "PubMed",
"id": "1281417",
"url": "https://glygen.org/publication/PubMed/1281417"
},
{
"database": "PubMed",
"id": "7510697",
"url": "https://glygen.org/publication/PubMed/7510697"
},
{
"database": "PubMed",
"id": "2927393",
"url": "https://glygen.org/publication/PubMed/2927393"
},
{
"database": "PubMed",
"id": "8325889",
"url": "https://glygen.org/publication/PubMed/8325889"
}
]
},
{
"annotation": "N-glycosylated (PubMed:2927393). Isoform TrkA-I and isoform TrkA-II are N-glycosylated.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "15488758",
"url": "https://glygen.org/publication/PubMed/15488758"
},
{
"database": "PubMed",
"id": "27676246",
"url": "https://glygen.org/publication/PubMed/27676246"
},
{
"database": "PubMed",
"id": "17196528",
"url": "https://glygen.org/publication/PubMed/17196528"
},
{
"database": "PubMed",
"id": "2927393",
"url": "https://glygen.org/publication/PubMed/2927393"
}
]
},
{
"annotation": "Ubiquitinated (PubMed:27445338). Undergoes polyubiquitination upon activation; regulated by NGFR (PubMed:27445338). Ubiquitination by NEDD4L leads to degradation (PubMed:27445338). Ubiquitination regulates the internalization of the receptor (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04629",
"url": "https://www.uniprot.org/uniprot/P04629"
},
{
"database": "PubMed",
"id": "27445338",
"url": "https://glygen.org/publication/PubMed/27445338"
}
]
}
],
"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": [],
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"Q8BI55-1",
"P54763-3",
"P16879-1",
"P09581-1",
"P34152-3",
"P14234-1",
"P39688-1",
"Q03146-1",
"Q03145-1",
"Q61526-1",
"P70451-1",
"Q5U4C9-1",
"Q9QVP9-1",
"Q03137-1",
"Q60751-1",
"Q62137-1",
"P28867-1",
"P25911-1",
"P48025-1",
"Q9WTL4-1",
"P41242-1",
"P05532-1",
"P06240-1",
"P08103-1",
"P15208-1",
"Q03526-1",
"Q9WVS7-1",
"P70236-1",
"P31938-1",
"P47809-1",
"Q61846-1",
"Q60805-1",
"Q63932-1",
"O09110-1",
"P26618-1",
"Q8CE90-1",
"P16056-1",
"P05622-1",
"P15209-1",
"Q6VNS1-1",
"Q61006-1",
"Q3UFB7-1",
"Q5RJI4-1",
"Q9JJ78-1",
"P58801-1",
"Q8VCT9-1",
"O70146-1",
"Q62190-1",
"Q62270-1",
"P35546-1",
"P35761-1",
"Q9Z138-1",
"Q9R117-1",
"O88697-1",
"P05480-2",
"Q01887-1",
"Q02858-1",
"Q06806-1",
"Q00993-1",
"Q64434-1",
"Q6J9G1-1",
"Q99ML2-1",
"Q78DX7-1",
"P55144-1",
"P43404-1",
"P35917-1",
"P47810-1",
"P35918-1",
"Q04736-1",
"Q66JT0-1",
"O54804-1",
"P52480-1",
"P14680-1",
"P21965-1",
"P22216-1",
"P32490-1",
"P06784-1",
"P08018-1",
"P32350-1",
"P32491-1",
"P54199-1",
"Q54G28-1",
"Q54N73-1",
"Q54R58-1",
"P18160-1",
"P18161-1",
"Q54BC9-1",
"Q54I36-1",
"Q54QV3-1",
"Q552C6-1",
"Q55CL6-1",
"Q75JK0-1",
"Q76NV1-1",
"Q23977-1",
"P18475-1",
"P13368-1",
"Q24145-1",
"Q24488-1",
"Q27324-1",
"P08630-1",
"P00522-1",
"P00528-1",
"P04412-1",
"Q9V422-1",
"Q9V6K3-1",
"Q9V9J3-1",
"Q9VBW3-1",
"P09208-1",
"P49762-1",
"P83102-1",
"Q24324-1",
"Q9VPC0-1",
"P49657-1",
"P54350-1",
"P18106-4",
"Q07407-1",
"Q09147-1",
"Q24592-1",
"Q9I7F7-1",
"Q9V3D5-1",
"Q9VZI2-1",
"Q8INJ8-1",
"Q7KJ08-1",
"Q9VJ04-1",
"E1JHB7-1",
"Q9VE06-1",
"O61444-1",
"O62602-1",
"Q9VZA8-1",
"Q7KT06-1"
],
"evidence": [
{
"id": "10596",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/10596"
}
]
},
{
"id": "R-HSA-166538",
"name": "The bound receptor dimerizes",
"equation": "",
"summary": "The binding of neurotrotrophin to TrkA receptors induce their dimerization to form receptor homodimers.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-166538",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166538"
}
]
},
{
"id": "R-HSA-166542",
"name": "beta-NGF dimer binds to TrkA receptor",
"equation": "",
"summary": "Neurotrophin dimer binding to TRK receptors causes receptor dimerization. Although the dissociation constants of NGF for TRK and p75NTR are very similar, the binding kinetics are quite different: NGF associates with and dissociates from p75NTR much more rapidly than from TRKA. p75NTR regulates the affinity and specificity of TRK receptor activation by neurotrophins is regulated. Its presence is required to observe high affinity binding to TRK receptors, since it increases the rate of neurotrophin association with TRK proteins. The major ligand binding domain in TRK receptors is the membrane-proximal Ig-C2-like domain (named Ig2 domain or domain 5), although other regions in in the TRK extracellular domains are also important for ligand binding.
The N termini of neurotrophins are important in controlling binding specificity, and the structure of this region is reorganized upon binding to a TRK receptor. In some neurons, TRK receptors are localized to intracellular vesicles in the absence of signals. Electrical activity, cAMP, and Ca2+ stimulate TRK insertion into the cell surface by exocytosis of cytoplasmic membrane vesicles containing TRK. At axon terminals, TRK receptors undergo ligand-dependent endocytosis upon ligand binding. The internalized neurotrophin-TRK complex is then sorted and enters either recycling or retrograde transport pathways.
",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-166542",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166542"
}
]
},
{
"id": "R-HSA-166544",
"name": "TrkA receptor autophosphorylates",
"equation": "",
"summary": "NGF binding induces a conformational change in TRKA, which entails the activation of the receptor kinase domain. TRK receptor activation results in phosphorylation of several of ten evolutionary conserved tyrosines present in the cytoplasmic domain of each receptor. Phosphorylation of the three tyrosines in the activation loop of the kinase domain (Y670, Y674, and Y675 in TRKA) enhances tyrosine kinase activity. Phosphorylation of TRKA Y490 and Y785 creates docking sites for proteins containing SH2 or PTB domains: Y490 is the docking site for SHC, FRS2 and IRS1/2, Y785 interacts with PLC-gamma-1. Three other tyrosine residues are important for signalling but it is not clear how. It is possible that they play a structural role in the receptor. Therefore, full activity of TRKA receptor requires eight tyrosine residues.
Human TRKA comes in two isoforms, named TRKA- I (790 a.a long) and TRKA- II (796 a.a. long). The tyrosine phosphorylation site numbering refers to TRKA- I. The site numbering in TRK-II is equal to TRK- I numbering + 6 (that is: Y490 in TRK- I corresponds to Y496 in TRK- II, and so on).The same modifications occur at the homologous sites of rat TrkA, which also comes in the two isoforms I and II.
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-166544",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166544"
}
]
},
{
"id": "R-HSA-167019",
"name": "SHC, complexed with TrkA, is tyrosine-phosphorylated",
"equation": "",
"summary": "Phosphorylation of Shc adapter proteins, and the concomitant recruitment of GRB2/SOS, results in the RAS-dependent, transient activation of ERKs, which is correlated with mitogenic and proliferative cell signalling. Prolonged activation of ERKs is instead regulated by a parallel pathway, involving CRK/C3G-dependent activation of the RAS-like GTPase RAP-1, and takes place in early endosomes.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167019",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167019"
}
]
},
{
"id": "R-HSA-167056",
"name": "SHC binds to the activated TrkA receptor",
"equation": "",
"summary": "SHC proteins (SHC 1, 2, 3) are signalling adapters, able to interact with phosphorylated Y496 of TRKA. SHC2 and SHC3 appear to be the primary SHC adaptor proteins in neurons as they are expressed in both the developing and adult nervous system. SHC1 is expressed embryonically but not in the adult brain, whereas SHC3 expression is lower in the embryonic brain and increases post-natally. Pi-Y496 of TrkA can also be bound by FRS2. The competitive binding between Frs2 and SHC at this phospho-tyrosine residue contributes to a cellular switch between cell cycle progression (SHC recruitment) and cell cycle arrest/differentiation (Frs2 recruitment).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167056",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167056"
}
]
},
{
"id": "R-HSA-167217",
"name": "Phospho-Shc dissociates from the TrkA receptor",
"equation": "",
"summary": "Once Shc is phosphorylated, it dissociates from the receptor.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167217",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167217"
}
]
},
{
"id": "R-HSA-167674",
"name": "Binding of PLCG1 to active TrkA receptor",
"equation": "",
"summary": "The PLC-gamma 1 docking site in Trk receptor (Y785) is important for initiation and maintenance of hippocampal LTP (long term potentiation); this residue in TrkA receptor also binds to CHK tyrosine kinase, which participates in MAPK pathway activation and is involved in PC12 cells neurite outgrowth in response to NGF. PLC-gamma 1 activation results in long term induction of a sodium channel gene (PN1).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P19174-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167674",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167674"
}
]
},
{
"id": "R-HSA-167683",
"name": "TrkA phosphorylates PLCG1",
"equation": "",
"summary": "Mutational analysis of tyrosine residues, highly conserved in the cytoplasmic domain of all Trk receptors, reveal that the activation of PLC-gamma is necessary to mobilize Ca2+ from intracellular stores, the key mechanism for regulated NT secretion.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P19174-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167683",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167683"
}
]
},
{
"id": "R-HSA-167684",
"name": "Active PLCG1 dissociates from TrkA receptor",
"equation": "",
"summary": "Once phosphorylated, PLC-gamma dissociates from the receptor",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P19174-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-167684",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167684"
}
]
},
{
"id": "R-HSA-169891",
"name": "ARMS:Crk complex binds to active TrkA receptor",
"equation": "",
"summary": "Ankyrin-Rich Membrane Spanning protein (ARMS or Kidins220) is a specific target of Trk receptor tyrosine phosphorylation. The ARMS/Kidins220:Crk complex is an upstream component of the C3G-Rap1-MAP kinase cascade and is SH3 dependent.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-169891",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-169891"
}
]
},
{
"id": "R-HSA-169895",
"name": "Crk's SH3 domain engages C3G",
"equation": "",
"summary": "Rap guanine nucleotide exchange factor 1 (RAPGEF1, C3G) is a guanine nucleotide exchange factor for Rap1, which is recruited by Crk adaptor proteins (Knudsen et al. 1994; York, 1998).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-169895",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-169895"
}
]
},
{
"id": "R-HSA-169901",
"name": "Rap1-GTP complex binds BRAF complex",
"equation": "",
"summary": "Rap1 binds to B-RAF; as a consequence, B-RAF is recruited to endosomes. The binding event of Rap1 to B-RAF is thought to be very similar to the binding of RAS to RAF-1. In neuronal cells that express B-Raf, NGF induced activation of Rap1 promotes a sustained activation of ERKs and is required for the induction of electrical excitability and a subset of neuron-specific genes. As regards morphological differentiation (e. g. neurite outgrowth in PC12 cells), things are more complex. The transient activation of ERKs via RAS is not sufficient for neurite outgrowth in the absence of additional signals. On the contrary, constitutive activation of Rap1 is sufficient to trigger neurite outgrowth, but it is not necessary for this response.
Clearly, morphological differentiation of PC12 cells involves the activation of multiple pathways by NGF. Rap1 activates B-Raf, but inhibits RAF-1. Consequently, Rap1 could have two opposing functions: to limit ERK activation in B-RAF-negative cells and to increase ERK activation in B-Raf-positive cells.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62834-1",
"P15056-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-169901",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-169901"
}
]
},
{
"id": "R-HSA-169904",
"name": "C3G stimulates nucleotide exchange on Rap1",
"equation": "",
"summary": "Rap1 is a small G protein, necessary for prolonged ERK activity in PC12 cells. In such cells, NGF triggers a program of neuronal differentiation through the activation of a Rap1:B-RAF:ERK module Rap1 is activated by NGF, but not by epidermal growth factor (EGF), although both growth factors cause transient activation of RAS. Activation of Rap1 by NGF requires internalization of TRKA to intracellular vesicles, mostly endosomes, containing Rap1, B-RAF, MEK and ERKs. Rap1 does not co-localize with RAS. Therefore, the ability of Rap1 to bind RAF-1 without activating it might sequester RAF-1 from RAS. Activation of GEFs that couple to Rap1 as well as RAS might provide a mechanism to limit signals to RAS.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62834-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-169904",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-169904"
}
]
},
{
"id": "R-HSA-169905",
"name": "ARMS is phosphorylated by active TrkA receptor",
"equation": "",
"summary": "Phosphorylation of ARMS by Trk receptor (on tyrosine 1096) enables ARMS to recruit Crk via it's SH2 domain and freeing the SH3 domain. The SH3 domain of Crk is then free to bind C3G for MAP kinase activation.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-169905",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-169905"
}
]
},
{
"id": "R-HSA-177479",
"name": "Axonal transport of NGF:Trk complexes",
"equation": "",
"summary": "Of the internalized NGF:TRK complexes, many undergo recycling and/or proteolysis. Only a small fraction is retrogradely transported. Vesicles containing neurotrophin, activated receptors and downstream kinases are transported through axons by the action of dynein, which produces a force towards the end of microtubules.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-177479",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177479"
}
]
},
{
"id": "R-HSA-177491",
"name": "Formation of clathrin-coated vesicle",
"equation": "",
"summary": "Both BDNF and NGF treatment recruits clathrin and AP2 (adaptor protein 2) proteins to the plasma membrane. Clathrin is the major protein of the polyhedral coat of vesicles. The AP2 complex mediates both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-177491",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177491"
}
]
},
{
"id": "R-HSA-177501",
"name": "Endocytosis (internalization) of clathrin-coated vesicle",
"equation": "",
"summary": "Dynamin is a microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. It is involved in vesicle trafficking processes and is necessary for endocytosis.; Dynamins are large GTPases that bind to PIP2-containing membranes, several SH3-domain containing proteins and cytoskeletal modifiers. They self-polymerize in a GTP dependent manner, catalyzing the scission of invaginating membranes during endocytosis (Praefcke & McMahon, 2004). ; There are three dynamins in humans: dynamin I is neuron-specific; dynamin II shows ubiquitous expression; dynamin III is expressed in testis, brain, lung and blood platelets.",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P50570-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-177501",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177501"
}
]
},
{
"id": "R-HSA-187661",
"name": "Ade-Rib binds AODORA2A and NTRK1,2",
"equation": "",
"summary": "Neurotrophins regulate neuronal cell survival and synaptic plasticity through activation of nerve growth factor receptor tyrosine kinases (NTRKs). Adenosine (Ade-Rib), a neuromodulator acting through A2A receptors (ADORA2A), can transactivate NTRKs in the absence of neurotrophins (Jeanneteau & Chao 2006). The mechanism of this activation is not fully understood. First, Ade-Rib binds ADORA2A and NTRK1 and NTRK2.",
"cellular_location": "Golgi membrane, cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q16620-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-187661",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187661"
}
]
},
{
"id": "R-HSA-187678",
"name": "ADCYAP1(2-742) binds ADCYAP1R1 and NTRK1,2",
"equation": "",
"summary": "Neurotrophins regulate neuronal cell survival and synaptic plasticity through activation of nerve growth factor receptor tyrosine kinases (NTRKs). Pituitary adenylate cyclase-activating polypeptide (ADCYAP1), a neuromodulator acting through type 1 PACAP receptors (ADCYAP1R1), can transactivate NTRKs in the absence of neurotrophins (Jeanneteau & Chao 2006). The mechanism of this activation is not fully understood. First, ADCYAP1 binds ADCYAP1R1 and NTRK1 and NTRK2.",
"cellular_location": "Golgi membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q16620-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-187678",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187678"
}
]
},
{
"id": "R-HSA-187697",
"name": "TRKA recruits RIT and RIN",
"equation": "",
"summary": "TrkA can bind the Ras subfamly members RIT and RIN.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92963-1",
"P04629-1",
"Q99578-1"
],
"evidence": [
{
"id": "R-HSA-187697",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187697"
}
]
},
{
"id": "R-HSA-187698",
"name": "RIT/RIN-GTP binds B-RAF",
"equation": "",
"summary": "Once activated by RIT or RIN, B-RAF activates, through MEK, the p38 MAP kinase. Whereas RIN appears to activate p38 (specifically the p38-alpha isoform) but not the ERKs, RIN was described to activate ERK1/ ERK2 as well, although to a much lower extent than p38. RIN signaling gives rise to sustained activation of p38 MAP kinase.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P15056-1",
"Q92963-1",
"P04629-1",
"Q99578-1"
],
"evidence": [
{
"id": "R-HSA-187698",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187698"
}
]
},
{
"id": "R-HSA-187746",
"name": "RIT/RIN are activated",
"equation": "",
"summary": "RIT and RIN are activated by neurotrophins through unknown exchange factors. Activation reaches a maximal level between 5 and 15 min after NGF stimulation and remains elevated for at least 2 h. RIN, which is neuron-specific, might function as a component of a neuron specific B-RAF signalosome complex, in which RIN provides spatial and/or substrate specificity to the B-RAF-MEK kinase cascade to direct stimulation of p38 signaling.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92963-1",
"P04629-1",
"Q99578-1"
],
"evidence": [
{
"id": "R-HSA-187746",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-187746"
}
]
},
{
"id": "R-HSA-190065",
"name": "Activated TrkA receptor internalizes to endosomes",
"equation": "",
"summary": "TRKA at the plasma membrane typically results in rapid endocytosis and subsequent passage of the receptors through a network of endosomal compartments (Harrington et al, 2011; Wu et al, 2001).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-190065",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190065"
}
]
},
{
"id": "R-HSA-198211",
"name": "Active TRKA binds IRS1/2",
"equation": "",
"summary": "IRS1 and IRS2 bind directly to TRK receptors phosphorylated at Y490, through their phosphotyrosine- binding (PTB) domains.",
"cellular_location": "cytoplasmic side of plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-198211",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198211"
}
]
},
{
"id": "R-HSA-198295",
"name": "TRKA phosphorylates IRS",
"equation": "",
"summary": "IRS1 and IRS2 are tyrosine phosphorylated at multiple YXXM motifs by the active TRKA kinase (Miranda et al.2001).",
"cellular_location": "cytoplasmic side of plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-198295",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198295"
}
]
},
{
"id": "R-HSA-198315",
"name": "Active IRS recruits PI3K to the plasma membrane and activates it",
"equation": "",
"summary": "The PI3K regulatory subunit p85 binds to IRS1 or IRS2, tyrosine-phosphorylated at YXXM motifs, through its SH2 domain.
As the p85 subunt is constitutively associated with the p110 catalytic subunit, the outcome is that the whole PI3K complex is recruited to the membrane. The interaction at the plasma membrane of the p85 regulatory subunit with the p110 catalytic subunit of PI3K (phosphatidylinositol-4,5-bisphosphate 3-kinase) causes a conformational change, resulting in activation of the catalytic subunit (Miranda et al. 2001).",
"cellular_location": "cytoplasmic side of plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P42338-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-198315",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198315"
}
]
},
{
"id": "R-HSA-198732",
"name": "STAT3 activation",
"equation": "",
"summary": "Activation of TRKA by NGF triggers STAT3 phosphorylation at Ser-727, and enhances the DNA binding and transcriptional activities of STAT3. Ser-727 phosphorylation of STAT3 begins within 5 min, and the levels of Ser(P) STAT3 remain elevated up to 30 min of NGF stimulation. Ser(P) STAT3 was localized to the cytoplasm, nuclei, and growth cones of neurites. Although the mechanisms by which STAT3 is activated by neurotrophins remaines unknown, phosphorylation of STAT3 at serine 727 might function as a convergent point for several signaling pathways triggered by Trk activation. Inhibition of STAT3 expression was found to attenuate NGF-induced transcription of immediate early genes, to suppress NGF-induced cyclin D1 expression, and to decrease BDNF-promoted neurite outgrowth in hippocampal neurons. The IL-37b:IL18R1:SIGIRR complex can facilitate the activation phosphorylation of STAT3 (Nold-Petry C A et al., 2015).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-198705"
],
"enzyme_list": [
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-198732",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198732"
}
]
},
{
"id": "R-HSA-9612980",
"name": "BRAF in Rap1-GTP complex:BRAF complex autophosphorylates",
"equation": "",
"summary": "Rap1 binds to B-RAF; as a consequence, B-RAF is recruited to endosomes. The binding event of Rap1 to B-RAF is thought to be very similar to the binding of RAS to RAF-1. In neuronal cells that express B-Raf, NGF induced activation of Rap1 promotes a sustained activation of ERKs and is required for the induction of electrical excitability and a subset of neuron-specific genes. As regards morphological differentiation (e. g. neurite outgrowth in PC12 cells), things are more complex. The transient activation of ERKs via RAS is not sufficient for neurite outgrowth in the absence of additional signals. On the contrary, constitutive activation of Rap1 is sufficient to trigger neurite outgrowth, but it is not necessary for this response.
Clearly, morphological differentiation of PC12 cells involves the activation of multiple pathways by NGF. Rap1 activates B-Raf, but inhibits RAF-1. Consequently, Rap1 could have two opposing functions: to limit ERK activation in B-RAF-negative cells and to increase ERK activation in B-Raf-positive cells.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62834-1",
"P15056-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-9612980",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612980"
}
]
},
{
"id": "R-HSA-9612996",
"name": "NTRK1,2 in ADCYAP1(2-742):ADCYAP1R1:NTRK1,2 autophosphorylates",
"equation": "",
"summary": "Neurotrophins regulate neuronal cell survival and synaptic plasticity through activation of nerve growth factor receptor tyrosine kinases (NTRKs). Pituitary adenylate cyclase-activating polypeptide (ADCYAP1), a neuromodulator acting through type 1 PACAP receptors (ADCYAP1R1), can transactivate NTRKs (they autophosphorylate) in the absence of neurotrophins (Jeanneteau & Chao 2006). The mechanism of this activation is not fully understood.",
"cellular_location": "Golgi membrane, cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q16620-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-9612996",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612996"
}
]
},
{
"id": "R-HSA-9613023",
"name": "NTRK1,2 in Ade-Rib:ADORA2A:NTRK1,2 autophosphorylates",
"equation": "",
"summary": "Neurotrophins regulate neuronal cell survival and synaptic plasticity through activation of nerve growth factor receptor tyrosine kinases (NTRKs). Adenosine (Ade-Rib), a neuromodulator acting through A2A receptors (ADORA2A), can transactivate NTRKs in the absence of neurotrophins (Jeanneteau & Chao 2006). The mechanism of this activation is not fully understood. After binding to Ade-Rib:ADORA2A, NTRK1 and NTRK2 autophosphorylate at 5 tyrosine residues.",
"cellular_location": "Golgi membrane, cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q16620-1",
"P04629-1"
],
"evidence": [
{
"id": "R-HSA-9613023",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613023"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-198705",
"participant_name": "p-S727-STAT3 [cytosol]",
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{
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{
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{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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}
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{
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}
]
}
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},
{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A0G2K6M9",
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}
]
},
{
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{
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}
]
}
]
},
{
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{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "A0A0R4J8U1",
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"url": "https://www.uniprot.org/uniprot/A0A0R4J8U1"
}
]
},
{
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{
"id": "A0A0R4J8U1",
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}
]
}
]
},
{
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{
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"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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{
"id": "A0A8I5ZP97",
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}
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}
]
}
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},
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "A0A8I5ZVE3",
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}
]
},
{
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{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "A0A8I6A5T6",
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"url": "https://www.uniprot.org/uniprot/A0A8I6A5T6"
}
]
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{
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{
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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": "A0A8I6AM23",
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"url": "https://www.uniprot.org/uniprot/A0A8I6AM23"
}
]
},
{
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}
]
}
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},
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"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
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"id": "A0A8I6AWX7",
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"url": "https://www.uniprot.org/uniprot/A0A8I6AWX7"
}
]
},
{
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"id": "A0A8I6AWX7",
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}
]
}
]
},
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{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "A0A8I6GCV6",
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"url": "https://www.uniprot.org/uniprot/A0A8I6GCV6"
}
]
},
{
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"id": "A0A8I6GCV6",
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}
]
}
]
},
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "B1WC09",
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}
]
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{
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}
]
}
]
},
{
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"id": "B2RYC7",
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}
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{
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}
]
}
]
},
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "B5DFD6",
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"url": "https://www.uniprot.org/uniprot/B5DFD6"
}
]
},
{
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}
]
}
]
},
{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "D3ZBN3",
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}
]
},
{
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"id": "D3ZBN3",
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}
]
}
]
},
{
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"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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"id": "D3ZCD0",
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}
]
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{
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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].",
"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"
}
]
}
]
},
{
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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"
}
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