{
"uniprot_canonical_ac": "P11362-1",
"uniprot_ac": "P11362",
"uniprot_id": "FGFR1_HUMAN",
"mass": {
"chemical_mass": 91868.0,
"monoisotopic_mass": 91868.0
},
"refseq": {
"ac": "NP_001167534",
"name": "fibroblast growth factor receptor 1 isoform 10 precursor",
"summary": "The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534"
},
"gene_names": [
{
"name": "FGFR1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "BFGFR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "CEK",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "FGFBR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "FGFR1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534",
"id": "NP_001167534"
},
{
"name": "FLG",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "FLT2",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "HBGFR",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
},
{
"name": "bFGF-R-1; BFGFR; CD331; CEK; ECCL; FGFBR; FGFR-1; FLG; FLT-2; FLT2; HBGFR; HH2; HRTFDS; KAL2; N-SAM; OGD",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534",
"id": "NP_001167534"
},
{
"name": "hCG_23105",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11362",
"id": "P11362"
}
],
"protein_names": [
{
"name": "Fibroblast growth factor receptor 1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P11362"
},
{
"name": "2.7.10.1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "BFGFR",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "Basic fibroblast growth factor receptor 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "FGFR-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "FLT-2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "Fms-like tyrosine kinase 2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "N-sam",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "Proto-oncogene c-Fgr",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "bFGF-R-1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11362"
},
{
"name": "fibroblast growth factor receptor 1 isoform 10 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534",
"id": "NP_001167534"
},
{
"name": "hydroxyaryl-protein kinase; fms-related tyrosine kinase 2; heparin-binding growth factor receptor; FMS-like tyrosine kinase 2; basic fibroblast growth factor receptor 1; proto-oncogene c-Fgr; FGFR1/PLAG1 fusion",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534",
"id": "NP_001167534"
}
],
"function": [
{
"annotation": "FGFR1 variants contributed to families with tooth agenesis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001167534",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534"
},
{
"database": "PubMed",
"id": "37833774",
"url": "https://glygen.org/publication/PubMed/37833774"
}
]
},
{
"annotation": "NF-kappaB downstream miR-1262 disturbs colon cancer cell malignant behaviors by targeting FGFR1.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001167534",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534"
},
{
"database": "PubMed",
"id": "37867436",
"url": "https://glygen.org/publication/PubMed/37867436"
}
]
},
{
"annotation": "The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001167534",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167534"
}
]
},
{
"annotation": "Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362#function"
},
{
"database": "PubMed",
"id": "1379697",
"url": "https://glygen.org/publication/PubMed/1379697"
},
{
"database": "UniProtKB",
"id": "P16092",
"url": "https://www.uniprot.org/uniprot/P16092#function"
},
{
"database": "PubMed",
"id": "8663044",
"url": "https://glygen.org/publication/PubMed/8663044"
},
{
"database": "PubMed",
"id": "21765395",
"url": "https://glygen.org/publication/PubMed/21765395"
},
{
"database": "PubMed",
"id": "19665973",
"url": "https://glygen.org/publication/PubMed/19665973"
},
{
"database": "PubMed",
"id": "20133753",
"url": "https://glygen.org/publication/PubMed/20133753"
},
{
"database": "PubMed",
"id": "1379698",
"url": "https://glygen.org/publication/PubMed/1379698"
},
{
"database": "PubMed",
"id": "19224897",
"url": "https://glygen.org/publication/PubMed/19224897"
},
{
"database": "PubMed",
"id": "20139426",
"url": "https://glygen.org/publication/PubMed/20139426"
},
{
"database": "PubMed",
"id": "17311277",
"url": "https://glygen.org/publication/PubMed/17311277"
},
{
"database": "PubMed",
"id": "11353842",
"url": "https://glygen.org/publication/PubMed/11353842"
},
{
"database": "PubMed",
"id": "15117958",
"url": "https://glygen.org/publication/PubMed/15117958"
},
{
"database": "PubMed",
"id": "16597617",
"url": "https://glygen.org/publication/PubMed/16597617"
},
{
"database": "PubMed",
"id": "18480409",
"url": "https://glygen.org/publication/PubMed/18480409"
},
{
"database": "PubMed",
"id": "8622701",
"url": "https://glygen.org/publication/PubMed/8622701"
},
{
"database": "PubMed",
"id": "12181353",
"url": "https://glygen.org/publication/PubMed/12181353"
},
{
"database": "PubMed",
"id": "17623664",
"url": "https://glygen.org/publication/PubMed/17623664"
},
{
"database": "PubMed",
"id": "10830168",
"url": "https://glygen.org/publication/PubMed/10830168"
},
{
"database": "PubMed",
"id": "19261810",
"url": "https://glygen.org/publication/PubMed/19261810"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0090070",
"recommended_name": {
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropic hypogonadism",
"description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."
},
"synonyms": [
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "congenital idiopathic hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "isolated congenital gonadotropin deficiency",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
],
"evidence": [
{
"id": "147950",
"database": "MIM",
"url": "https://www.omim.org/entry/147950"
}
]
},
{
"disease_id": "DOID:0090083",
"recommended_name": {
"id": "DOID:0090083",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090083",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."
},
"synonyms": [
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
],
"evidence": [
{
"id": "147950",
"database": "MIM",
"url": "https://www.omim.org/entry/147950"
}
]
},
{
"disease_id": "DOID:0111337",
"recommended_name": {
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "Jackson-Weiss syndrome",
"description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13."
},
"synonyms": [
{
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "JWS",
"description": ""
},
{
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "Jackson-Weiss syndrome",
"description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "JWS",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "Jackson-Weiss syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "craniosynostosis, midfacial hypoplasia, and foot abnormalities",
"description": ""
},
{
"id": "MIM:123150",
"resource": "MIM",
"url": "https://www.omim.org/entry/123150",
"name": "Jackson-Weiss syndrome",
"description": "Jackson-Weiss syndrome"
}
],
"evidence": [
{
"id": "123150",
"database": "MIM",
"url": "https://www.omim.org/entry/123150"
}
]
},
{
"disease_id": "DOID:0111532",
"recommended_name": {
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dysplasia",
"description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23."
},
"synonyms": [
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "Fairbank-Keats syndrome",
"description": ""
},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "OGD",
"description": ""
},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dwarfism",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
"description": "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth."
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "Fairbank-Keats syndrome",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "OGD",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "OSTEOGLOPHONIC dysplasia",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "Osteoglosphonic dysplasia",
"description": ""
},
{
"id": "MIM:166250",
"resource": "MIM",
"url": "https://www.omim.org/entry/166250",
"name": "Osteoglophonic dysplasia",
"description": "Osteoglophonic dysplasia"
}
],
"evidence": [
{
"id": "166250",
"database": "MIM",
"url": "https://www.omim.org/entry/166250"
}
]
},
{
"disease_id": "DOID:14705",
"recommended_name": {
"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "Pfeiffer syndrome",
"description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."
},
"synonyms": [
{
"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "acrocephalosyndactylia type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactylia type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "type V Acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Noack syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer type acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly, type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "craniofacial-skeletal-Dermatologic dysplasia",
"description": ""
},
{
"id": "MIM:101600",
"resource": "MIM",
"url": "https://www.omim.org/entry/101600",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome"
}
],
"evidence": [
{
"id": "101600",
"database": "MIM",
"url": "https://www.omim.org/entry/101600"
}
]
},
{
"disease_id": "MONDO:0008603",
"recommended_name": {
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "trigonocephaly 1",
"description": "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene."
},
"synonyms": [
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "FGFR1 isolated trigonocephaly",
"description": ""
},
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "isolated trigonocephaly caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "trigonocephaly 1",
"description": ""
},
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "trigonocephaly type 1",
"description": ""
},
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "TRIGNO1",
"description": ""
},
{
"id": "MONDO:0008603",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008603",
"name": "craniosynostosis, metopic",
"description": ""
},
{
"id": "MIM:190440",
"resource": "MIM",
"url": "https://www.omim.org/entry/190440",
"name": "Trigonocephaly 1",
"description": "Trigonocephaly 1"
}
],
"evidence": [
{
"id": "190440",
"database": "MIM",
"url": "https://www.omim.org/entry/190440"
}
]
},
{
"disease_id": "MONDO:0013074",
"recommended_name": {
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "encephalocraniocutaneous lipomatosis",
"description": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations."
},
"synonyms": [
{
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "ECCL",
"description": ""
},
{
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "Fishman syndrome",
"description": ""
},
{
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "Haberland syndrome",
"description": ""
},
{
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "encephalocraniocutaneous lipomatosis",
"description": ""
},
{
"id": "MONDO:0013074",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013074",
"name": "encephalocraniocutaneous lipomatosis, somatic mosaic",
"description": ""
},
{
"id": "MIM:613001",
"resource": "MIM",
"url": "https://www.omim.org/entry/613001",
"name": "Encephalocraniocutaneous lipomatosis",
"description": "Encephalocraniocutaneous lipomatosis"
}
],
"evidence": [
{
"id": "613001",
"database": "MIM",
"url": "https://www.omim.org/entry/613001"
}
]
},
{
"disease_id": "MONDO:0014196",
"recommended_name": {
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "Hartsfield-Bixler-Demyer syndrome",
"description": ""
},
"synonyms": [
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "Hartsfield-Bixler-Demyer syndrome",
"description": ""
},
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "holoprosencephaly-ectrodactyly-cleft lip palate syndrome",
"description": ""
},
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome",
"description": ""
},
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "HARTSFIELD syndrome",
"description": ""
},
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "HRTFDS",
"description": ""
},
{
"id": "MONDO:0014196",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014196",
"name": "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate",
"description": ""
},
{
"id": "MIM:615465",
"resource": "MIM",
"url": "https://www.omim.org/entry/615465",
"name": "Hartsfield syndrome",
"description": "Hartsfield syndrome"
}
],
"evidence": [
{
"id": "615465",
"database": "MIM",
"url": "https://www.omim.org/entry/615465"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1474403980",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474403980"
},
{
"id": "rs1474403980",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1474403980"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 109,
"end_pos": 109,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDT->NDT).",
"chr_id": "8",
"chr_pos": "38429714",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S109",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1372382432",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372382432"
},
{
"id": "rs1372382432",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1372382432"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 110,
"end_pos": 110,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTT->NTT).",
"chr_id": "8",
"chr_pos": "38429712",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D110",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs780765366",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780765366"
},
{
"id": "rs780765366",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780765366"
},
{
"id": "rs780765366",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs780765366#frequency_tab"
},
{
"id": "rs780765366",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs780765366"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 117,
"end_pos": 117,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).",
"chr_id": "8",
"chr_pos": "38429690",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N117",
"disease": [
{
"disease_id": "DOID:0090083",
"recommended_name": {
"id": "DOID:0090083",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090083",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."
},
"synonyms": [
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
]
},
{
"disease_id": "DOID:0090070",
"recommended_name": {
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropic hypogonadism",
"description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."
},
"synonyms": [
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "congenital idiopathic hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "isolated congenital gonadotropin deficiency",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
]
},
{
"disease_id": "DOID:14705",
"recommended_name": {
"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "Pfeiffer syndrome",
"description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."
},
"synonyms": [
{
"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "acrocephalosyndactylia type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactylia type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "type V Acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Noack syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer type acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly, type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "craniofacial-skeletal-Dermatologic dysplasia",
"description": ""
},
{
"id": "MIM:101600",
"resource": "MIM",
"url": "https://www.omim.org/entry/101600",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs1354935534",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354935534"
},
{
"id": "rs1354935534",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1354935534"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 119,
"end_pos": 119,
"sequence_org": "S",
"sequence_mut": "L",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVL).",
"chr_id": "8",
"chr_pos": "38429684",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S119",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs562958780",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562958780"
},
{
"id": "rs562958780",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs562958780"
},
{
"id": "rs562958780",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs562958780#frequency_tab"
},
{
"id": "rs562958780",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs562958780"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 132,
"end_pos": 132,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).",
"chr_id": "8",
"chr_pos": "38428400",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D132",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1248111718",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248111718"
},
{
"id": "rs1248111718",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1248111718#frequency_tab"
},
{
"id": "rs1248111718",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1248111718"
},
{
"id": "21097718",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/21097718"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 133,
"end_pos": 133,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).",
"chr_id": "8",
"chr_pos": "38428397",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D133",
"keywords": [
"ebi",
"somatic"
]
},
{
"evidence": [
{
"id": "rs762961614",
"database": "dbSNP",
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},
{
"id": "rs762961614",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762961614"
},
{
"id": "rs762961614",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs762961614"
}
],
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"n-glyco-sequon-loss"
],
"start_pos": 227,
"end_pos": 227,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->SYT).",
"chr_id": "8",
"chr_pos": "38426187",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N227",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs768900681",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768900681"
},
{
"id": "rs768900681",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768900681"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 240,
"end_pos": 240,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->SHT).",
"chr_id": "8",
"chr_pos": "38426148",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N240",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs515726223",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs515726223"
},
{
"id": "rs515726223",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs515726223"
}
],
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],
"start_pos": 264,
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"sequence_org": "N",
"sequence_mut": "H",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->HKT).",
"chr_id": "8",
"chr_pos": "38424655",
"ref_nt": "G",
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{
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"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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{
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MIM:147950",
"resource": "MIM",
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"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
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]
},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
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},
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{
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},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
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},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "isolated congenital gonadotropin deficiency",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
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"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MIM:147950",
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]
}
],
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"disease"
]
},
{
"evidence": [
{
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}
],
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],
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"end_pos": 296,
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"sequence_mut": "S",
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"site_lbl": "N296",
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{
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{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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{
"id": "MONDO:0007844",
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"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
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},
{
"id": "MIM:147950",
"resource": "MIM",
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]
},
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},
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"id": "DOID:0090070",
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},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
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},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
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},
{
"id": "MONDO:0007844",
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{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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},
{
"id": "MONDO:0007844",
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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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"alt_nt": "null",
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{
"disease_id": "DOID:0111532",
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dysplasia",
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},
"synonyms": [
{
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},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "OGD",
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},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dwarfism",
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},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
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},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
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},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "Fairbank-Keats syndrome",
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},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "OGD",
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},
{
"id": "MONDO:0008150",
"resource": "MONDO",
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},
{
"id": "MONDO:0008150",
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"url": "https://monarchinitiative.org/disease/MONDO:0008150",
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},
{
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]
}
],
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},
{
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],
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
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{
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"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",
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},
{
"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"
}
]
}
],
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"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "P11362",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11362"
}
],
"glycoeffect": [],
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"end_pos": 546,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "8",
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"minor_allelic_frequency": "",
"site_lbl": "N546",
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
},
{
"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",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"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",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "P11362",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11362"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 587,
"end_pos": 587,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "P",
"sequence_mut": "H",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NHS).",
"chr_id": "8",
"chr_pos": "38415964",
"ref_nt": "G",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "P587",
"disease": [
{
"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": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs781268209",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781268209"
},
{
"id": "rs781268209",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781268209"
},
{
"id": "rs781268209",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs781268209"
},
{
"id": "rs1243758431",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243758431"
},
{
"id": "rs1243758431",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243758431"
},
{
"id": "rs1243758431",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1243758431"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 587,
"end_pos": 587,
"sequence_org": "P",
"sequence_mut": "L",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).",
"chr_id": "8",
"chr_pos": "38415952",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P587",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1563442408",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563442408"
},
{
"id": "rs1563442408",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1563442408"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 587,
"end_pos": 587,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).",
"chr_id": "8",
"chr_pos": "38415965",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P587",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P11362",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11362"
},
{
"id": "rs1057519897",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519897"
},
{
"id": "rs1057519897",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1057519897"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 656,
"end_pos": 656,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTT->NTT).",
"chr_id": "8",
"chr_pos": "38414788",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "K656",
"disease": [
{
"disease_id": "DOID:1319",
"recommended_name": {
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "brain cancer",
"description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
},
"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",
"description": ""
},
{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
"name": "malignant brain tumour",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
},
{
"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",
"description": ""
}
]
},
{
"disease_id": "DOID:684",
"recommended_name": {
"id": "DOID:684",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:684",
"name": "hepatocellular carcinoma",
"description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver."
},
"synonyms": [
{
"id": "DOID:684",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:684",
"name": "Hepatoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma",
"description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation."
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "HCC",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "cancer, hepatocellular",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of liver",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of the liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma, hepatocellular, malignant",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular adenocarcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular cancer",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma, childhood type, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cell cancer (hepatocellular carcinoma)",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cell carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "primary carcinoma of liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "primary carcinoma of the liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "adult hepatoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "adult primary hepatocellular carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma caused by somatic mutation",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver and intrahepatic bile duct carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cancer",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma",
"description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation."
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "HCC",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "cancer, hepatocellular",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of liver",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma of the liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "carcinoma, hepatocellular, malignant",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular adenocarcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular cancer",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma, childhood type, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatocellular carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cell cancer (hepatocellular carcinoma)",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cell carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "primary carcinoma of liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "primary carcinoma of the liver cells",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "adult hepatoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "adult primary hepatocellular carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "hepatoblastoma caused by somatic mutation",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver and intrahepatic bile duct carcinoma",
"description": ""
},
{
"id": "MONDO:0007256",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007256",
"name": "liver cancer",
"description": ""
},
{
"id": "MIM:114550",
"resource": "MIM",
"url": "https://www.omim.org/entry/114550",
"name": "Hepatocellular carcinoma",
"description": "Hepatocellular carcinoma"
}
]
},
{
"disease_id": "DOID:9952",
"recommended_name": {
"id": "DOID:9952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9952",
"name": "acute lymphoblastic leukemia",
"description": "A acute leukemia that is characterized by over production of lymphoblasts."
},
"synonyms": [
{
"id": "DOID:9952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9952",
"name": "ALL",
"description": ""
},
{
"id": "DOID:9952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9952",
"name": "precursor lymphoblastic lymphoma/leukemia",
"description": ""
},
{
"id": "DOID:9952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9952",
"name": "acute lymphoblastic leukaemia",
"description": ""
},
{
"id": "DOID:9952",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9952",
"name": "acute lymphocytic leukaemia",
"description": ""
},
{
"id": "MONDO:0009539",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009539",
"name": "lymphoblastic leukemia, acute, with lymphomatous features",
"description": ""
},
{
"id": "MONDO:0009539",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009539",
"name": "leukemia, acute lymphoblastic",
"description": ""
},
{
"id": "MONDO:0009539",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009539",
"name": "lymphoblastic leukemia, acute, with lymphomatous features",
"description": ""
},
{
"id": "MONDO:0009539",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009539",
"name": "lall",
"description": ""
},
{
"id": "MONDO:0009539",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009539",
"name": "lymphomatous All",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphocytic, susceptibility to, 1",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "T-cell acute lymphoblastic leukemia, somatic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, T-cell acute lymphoblastic, somatic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, T-cell acute lymphocytic, somatic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphoblastic, somatic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphocytic, susceptibility to, 1",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "ALL",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "All1",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, B-cell acute lymphoblastic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, T-cell acute lymphoblastic, susceptibility to",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphoblastic",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to",
"description": ""
},
{
"id": "MONDO:0013108",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013108",
"name": "leukemia, acute lymphoblastic, susceptibility to, 1",
"description": ""
},
{
"id": "MIM:613065",
"resource": "MIM",
"url": "https://www.omim.org/entry/613065",
"name": "Leukemia, acute lymphoblastic",
"description": "Leukemia, acute lymphoblastic"
}
]
},
{
"disease_id": "DOID:0050902",
"recommended_name": {
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "medulloblastoma",
"description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor."
},
"synonyms": [
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "CNS PNET",
"description": ""
},
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "CPNET",
"description": ""
},
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "brain medulloblastoma",
"description": ""
},
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "infratentorial primitive neuroectodermal tumor",
"description": ""
},
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "localized primitive neuroectodermal tumor",
"description": ""
},
{
"id": "DOID:0050902",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050902",
"name": "Medulloblastoma, histologically defined",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma",
"description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity."
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "brain medulloblastoma",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "cerebellar medulloblastoma",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "cerebellum embryonal neoplasm",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma, malignant",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma, somatic",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastomas",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "CNS PNET",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "CPNET",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "MDB",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "infratentorial primitive neuroectodermal tumor",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "infratentorial primitive neuroectodermal tumour",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "localised primitive neuroectodermal tumour",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "localized primitive neuroectodermal tumor",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma with extensive nodularity",
"description": ""
},
{
"id": "MONDO:0007959",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007959",
"name": "medulloblastoma, desmoplastic",
"description": ""
},
{
"id": "MIM:155255",
"resource": "MIM",
"url": "https://www.omim.org/entry/155255",
"name": "Medulloblastoma",
"description": "Medulloblastoma"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi"
]
},
{
"evidence": [
{
"id": "rs267606806",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606806"
},
{
"id": "rs267606806",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606806"
},
{
"id": "rs267606806",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs267606806"
},
{
"id": "16606836",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16606836"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 724,
"end_pos": 724,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).",
"chr_id": "8",
"chr_pos": "38414166",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N724",
"disease": [
{
"disease_id": "DOID:0090083",
"recommended_name": {
"id": "DOID:0090083",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090083",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."
},
"synonyms": [
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
]
},
{
"disease_id": "DOID:0090070",
"recommended_name": {
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropic hypogonadism",
"description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."
},
"synonyms": [
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "congenital idiopathic hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "isolated congenital gonadotropin deficiency",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
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"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
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"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
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]
},
{
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"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "Pfeiffer syndrome",
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},
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{
"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
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"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
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},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
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"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
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"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Noack syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer type acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly, type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "craniofacial-skeletal-Dermatologic dysplasia",
"description": ""
},
{
"id": "MIM:101600",
"resource": "MIM",
"url": "https://www.omim.org/entry/101600",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome"
}
]
}
],
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"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs1190864622",
"database": "dbSNP",
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},
{
"id": "rs1190864622",
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],
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],
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"end_pos": 724,
"sequence_org": "N",
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"germline"
]
},
{
"evidence": [
{
"id": "rs1409446474",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1409446474"
},
{
"id": "rs1409446474",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1409446474#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 726,
"end_pos": 726,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).",
"chr_id": "8",
"chr_pos": "38414162",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T726",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs121909644",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909644"
},
{
"id": "rs121909644",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs121909644#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 768,
"end_pos": 768,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).",
"chr_id": "8",
"chr_pos": "38413795",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D768",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs767195580",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767195580"
},
{
"id": "rs767195580",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767195580"
},
{
"id": "rs767195580",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs767195580#frequency_tab"
},
{
"id": "rs767195580",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs767195580"
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],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 77,
"end_pos": 77,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).",
"chr_id": "8",
"chr_pos": "38429809",
"ref_nt": "C",
"alt_nt": "null",
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"ebi",
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"disease"
],
"disease": [
{
"disease_id": "DOID:0090083",
"recommended_name": {
"id": "DOID:0090083",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090083",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes."
},
"synonyms": [
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
]
},
{
"disease_id": "DOID:0090070",
"recommended_name": {
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropic hypogonadism",
"description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."
},
"synonyms": [
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "hypogonadotropism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "congenital idiopathic hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "DOID:0090070",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0090070",
"name": "isolated congenital gonadotropin deficiency",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene."
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "FGFR1 hypogonadotropic hypogonadism",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism 2 with or without anosmia",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "hypogonadotropic hypogonadism caused by mutation in FGFR1",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "HH2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "KAL2",
"description": ""
},
{
"id": "MONDO:0007844",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007844",
"name": "Kallmann syndrome 2",
"description": ""
},
{
"id": "MIM:147950",
"resource": "MIM",
"url": "https://www.omim.org/entry/147950",
"name": "Hypogonadotropic hypogonadism 2 with or without anosmia",
"description": "Hypogonadotropic hypogonadism 2 with or without anosmia"
}
]
},
{
"disease_id": "DOID:0111337",
"recommended_name": {
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "Jackson-Weiss syndrome",
"description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13."
},
"synonyms": [
{
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "JWS",
"description": ""
},
{
"id": "DOID:0111337",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111337",
"name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "Jackson-Weiss syndrome",
"description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "JWS",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "Jackson-Weiss syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
"description": ""
},
{
"id": "MONDO:0007400",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007400",
"name": "craniosynostosis, midfacial hypoplasia, and foot abnormalities",
"description": ""
},
{
"id": "MIM:123150",
"resource": "MIM",
"url": "https://www.omim.org/entry/123150",
"name": "Jackson-Weiss syndrome",
"description": "Jackson-Weiss syndrome"
}
]
},
{
"disease_id": "DOID:0111532",
"recommended_name": {
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dysplasia",
"description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23."
},
"synonyms": [
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "Fairbank-Keats syndrome",
"description": ""
},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "OGD",
"description": ""
},
{
"id": "DOID:0111532",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0111532",
"name": "osteoglophonic dwarfism",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
"description": "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth."
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "osteoglophonic dwarfism",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "Fairbank-Keats syndrome",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "OGD",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "OSTEOGLOPHONIC dysplasia",
"description": ""
},
{
"id": "MONDO:0008150",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008150",
"name": "Osteoglosphonic dysplasia",
"description": ""
},
{
"id": "MIM:166250",
"resource": "MIM",
"url": "https://www.omim.org/entry/166250",
"name": "Osteoglophonic dysplasia",
"description": "Osteoglophonic dysplasia"
}
]
},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
"name": "Pfeiffer syndrome",
"description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."
},
"synonyms": [
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"id": "DOID:14705",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:14705",
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},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactylia type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly type V",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "type V Acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "ACS 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Noack syndrome",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "Pfeiffer type acrocephalosyndactyly",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "acrocephalosyndactyly, type 5",
"description": ""
},
{
"id": "MONDO:0007043",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007043",
"name": "craniofacial-skeletal-Dermatologic dysplasia",
"description": ""
},
{
"id": "MIM:101600",
"resource": "MIM",
"url": "https://www.omim.org/entry/101600",
"name": "Pfeiffer syndrome",
"description": "Pfeiffer syndrome"
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]
}
]
},
{
"evidence": [
{
"id": "rs752495999",
"database": "dbSNP",
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{
"id": "rs752495999",
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{
"id": "rs752495999",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs752495999"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 77,
"end_pos": 77,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->SRT).",
"chr_id": "8",
"chr_pos": "38429810",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N77",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1306185959",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306185959"
},
{
"id": "rs1306185959",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1306185959"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 79,
"end_pos": 79,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRA).",
"chr_id": "8",
"chr_pos": "38429805",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T79",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs867481100",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867481100"
},
{
"id": "rs867481100",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs867481100"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 79,
"end_pos": 79,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRI).",
"chr_id": "8",
"chr_pos": "38429804",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T79",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 514,
"end_pos": 514,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "15117958",
"url": "https://glygen.org/publication/PubMed/15117958"
}
]
},
{
"start_pos": 577,
"end_pos": 577,
"sequence_org": "R",
"sequence_mut": "E",
"comment": "Strongly reduced autophosphorylation in response to FGF signaling. No effect on in vitro kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "20133753",
"url": "https://glygen.org/publication/PubMed/20133753"
}
]
},
{
"start_pos": 609,
"end_pos": 609,
"sequence_org": "R",
"sequence_mut": "V",
"comment": "Abolishes interaction with PLCG1.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
]
},
{
"start_pos": 623,
"end_pos": 623,
"sequence_org": "D",
"sequence_mut": "A",
"comment": "Loss of kinase activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "19224897",
"url": "https://glygen.org/publication/PubMed/19224897"
}
]
},
{
"start_pos": 653,
"end_pos": 653,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "No effect on kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-654.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "8622701",
"url": "https://glygen.org/publication/PubMed/8622701"
}
]
},
{
"start_pos": 654,
"end_pos": 654,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Reduced kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-653.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "8622701",
"url": "https://glygen.org/publication/PubMed/8622701"
}
]
},
{
"start_pos": 755,
"end_pos": 755,
"sequence_org": "D",
"sequence_mut": "V",
"comment": "Abolishes interaction with PLCG1.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
]
},
{
"start_pos": 766,
"end_pos": 766,
"sequence_org": "Y",
"sequence_mut": "F",
"comment": "Abolishes interaction with PLCG1 and SHB. Decreases phosphorylation of FRS2, activation of RAS and MAP kinase signaling and stimulation of cell proliferation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "1379697",
"url": "https://glygen.org/publication/PubMed/1379697"
},
{
"database": "PubMed",
"id": "1379698",
"url": "https://glygen.org/publication/PubMed/1379698"
},
{
"database": "PubMed",
"id": "7516330",
"url": "https://glygen.org/publication/PubMed/7516330"
},
{
"database": "PubMed",
"id": "12181353",
"url": "https://glygen.org/publication/PubMed/12181353"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "87.76",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "85.05",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
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"score": "94.21",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "97.68",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "98.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
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"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "94.2",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
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"score": "86.03",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "96.63",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "93.82",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "92.13",
"present": "HIGH",
"evidence": [
{
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}
]
},
{
"tissue": {
"name": "Liver",
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"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "84.67",
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{
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"id": "ENSG00000077782",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000077782"
}
]
},
{
"tissue": {
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"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
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}
]
},
{
"tissue": {
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"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
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"present": "HIGH",
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}
]
}
],
"expression_disease": [
{
"significant": "Yes",
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"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
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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:0012597",
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},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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"url": "https://monarchinitiative.org/disease/MONDO:0012597",
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"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
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},
{
"id": "MONDO:0012741",
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"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
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}
],
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{
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"resource": "Disease Ontology",
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"synonyms": [
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
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"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",
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},
{
"id": "MONDO:0001056",
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"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",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
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"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",
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"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
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},
{
"id": "DOID:11054",
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"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",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"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",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumor",
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},
{
"id": "MONDO:0001187",
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"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"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": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"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": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"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": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"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": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P11362",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11362"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
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"name": "Esophageal cancer",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
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{
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"id": "P11362",
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],
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{
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},
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colon cancer, somatic",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
"id": "MONDO:0005575",
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"name": "malignant colorectal tumour",
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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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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"header": "tr|A0A3B3ISD1-1|A0A3B3ISD1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
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},
{
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]
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},
{
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"length": 245,
"header": "tr|A0A6I8PRY1-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
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"chromosome": "8",
"start_pos": 38428435,
"end_pos": 38421930,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000674235.1",
"url": "https://www.ensembl.org/id/ENST00000674235.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000501425.1",
"url": "https://www.ensembl.org/id/ENSP00000501425.1"
}
]
}
},
{
"isoform_ac": "A0A6I8PTV4-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQEMRSHFVAQADL",
"length": 42,
"header": "tr|A0A6I8PTV4-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38443458,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000674380.1",
"url": "https://www.ensembl.org/id/ENST00000674380.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000501514.1",
"url": "https://www.ensembl.org/id/ENSP00000501514.1"
}
]
}
},
{
"isoform_ac": "A0A804HIF1-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKVIMAPVFVGQSTGKETTVSGAQVPVGRLSCPRMGSFLTLQAHTLHLSRDLATSPRTSNRGHKVETAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQVLHPDLTTHLLPLRCFWKVRKRRCLLRGQEPHPCSRGAGQRVKAQQPSTMDGFLQGNRWGWAGEGAPT",
"length": 892,
"header": "tr|A0A804HIF1-1|A0A804HIF1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38412392,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000683765.1",
"url": "https://www.ensembl.org/id/ENST00000683765.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507039.1",
"url": "https://www.ensembl.org/id/ENSP00000507039.1"
}
]
}
},
{
"isoform_ac": "A0A8I3B1S4-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQVLHPDLTTHLLPLRCFWKVRKRRCLLRGQEPHPCSRGAGQRVKAQQPSTMDGFLQGNRWGWAGEGAPT",
"length": 828,
"header": "tr|A0A8I3B1S4-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38412392,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000341462.9",
"url": "https://www.ensembl.org/id/ENST00000341462.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000340636.7",
"url": "https://www.ensembl.org/id/ENSP00000340636.7"
}
]
}
},
{
"isoform_ac": "A0A994J419-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKHSGINSSDAEVLTLFNVTEAQSGEYVCKVSNYIGEANQSAWLTVTRPVAKALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 822,
"header": "tr|A0A994J419-1|A0A994J419_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000703405.1",
"url": "https://www.ensembl.org/id/ENST00000703405.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000515291.1",
"url": "https://www.ensembl.org/id/ENSP00000515291.1"
}
]
}
},
{
"isoform_ac": "B5A958-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKPWKRGRQ",
"length": 228,
"header": "tr|B5A958-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38419715,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000619564.3",
"url": "https://www.ensembl.org/id/ENST00000619564.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000484553.1",
"url": "https://www.ensembl.org/id/ENSP00000484553.1"
}
]
}
},
{
"isoform_ac": "C9J1L5-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDN",
"length": 54,
"header": "tr|C9J1L5-1|C9J1L5_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=4 SV=8 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38428365,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000434187.5",
"url": "https://www.ensembl.org/id/ENST00000434187.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000392645.1",
"url": "https://www.ensembl.org/id/ENSP00000392645.1"
}
]
}
},
{
"isoform_ac": "C9J205-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSP",
"length": 106,
"header": "tr|C9J205-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=9 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38429722,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000413133.6",
"url": "https://www.ensembl.org/id/ENST00000413133.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000400708.2",
"url": "https://www.ensembl.org/id/ENSP00000400708.2"
}
]
}
},
{
"isoform_ac": "E7EU09-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKHSGINSSDAEVLTLFNVTEAQSGEYVCKVSNYIGEANQSAWLTVTRPVAKALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 733,
"header": "tr|E7EU09-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000397103.5",
"url": "https://www.ensembl.org/id/ENST00000397103.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000380292.1",
"url": "https://www.ensembl.org/id/ENSP00000380292.1"
}
]
}
},
{
"isoform_ac": "E9PKF2-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEY",
"length": 145,
"header": "tr|E9PKF2-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38426159,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000526742.5",
"url": "https://www.ensembl.org/id/ENST00000526742.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000433569.1",
"url": "https://www.ensembl.org/id/ENSP00000433569.1"
}
]
}
},
{
"isoform_ac": "E9PKV7-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCI",
"length": 142,
"header": "tr|E9PKV7-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38426174,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000529552.5",
"url": "https://www.ensembl.org/id/ENST00000529552.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000435283.1",
"url": "https://www.ensembl.org/id/ENSP00000435283.1"
}
]
}
},
{
"isoform_ac": "E9PKX3-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQACPDLQEAKWCSASFHSITPLPFGLGTRLSD",
"length": 61,
"header": "tr|E9PKX3-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38429299,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000487647.5",
"url": "https://www.ensembl.org/id/ENST00000487647.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000435254.1",
"url": "https://www.ensembl.org/id/ENSP00000435254.1"
}
]
}
},
{
"isoform_ac": "E9PN14-1",
"url": "",
"sequence": {
"sequence": "MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSK",
"length": 139,
"header": "tr|E9PN14-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38428061,
"end_pos": 38424548,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000533668.5",
"url": "https://www.ensembl.org/id/ENST00000533668.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434869.1",
"url": "https://www.ensembl.org/id/ENSP00000434869.1"
}
]
}
},
{
"isoform_ac": "E9PNM3-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGS",
"length": 298,
"header": "tr|E9PNM3-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38424551,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000525001.5",
"url": "https://www.ensembl.org/id/ENST00000525001.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434712.1",
"url": "https://www.ensembl.org/id/ENSP00000434712.1"
}
]
}
},
{
"isoform_ac": "E9PQ40-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKF",
"length": 85,
"header": "tr|E9PQ40-1|E9PQ40_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38428014,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000530568.5",
"url": "https://www.ensembl.org/id/ENST00000530568.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434473.1",
"url": "https://www.ensembl.org/id/ENSP00000434473.1"
}
]
}
},
{
"isoform_ac": "H0YE20-1",
"url": "",
"sequence": {
"sequence": "VSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELPAAGT",
"length": 134,
"header": "tr|H0YE20-1|FGFR1_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=1 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38415923,
"end_pos": 38414019,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000531196.5",
"url": "https://www.ensembl.org/id/ENST00000531196.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000434800.1",
"url": "https://www.ensembl.org/id/ENSP00000434800.1"
}
]
}
},
{
"isoform_ac": "P11362-1",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 822,
"header": "sp|P11362-1|FGFR1_HUMAN Isoform 1 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000447712.7",
"url": "https://www.ensembl.org/id/ENST00000447712.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000400162.2",
"url": "https://www.ensembl.org/id/ENSP00000400162.2"
}
]
}
},
{
"isoform_ac": "P11362-10",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 573,
"header": "sp|P11362-10|FGFR1_HUMAN Isoform 10 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-11",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 571,
"header": "sp|P11362-11|FGFR1_HUMAN Isoform 11 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-12",
"url": "",
"sequence": {
"sequence": "MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 502,
"header": "sp|P11362-12|FGFR1_HUMAN Isoform 12 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-13",
"url": "",
"sequence": {
"sequence": "MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 500,
"header": "sp|P11362-13|FGFR1_HUMAN Isoform 13 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-14",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 731,
"header": "sp|P11362-14|FGFR1_HUMAN Isoform 14 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000326324.10",
"url": "https://www.ensembl.org/id/ENST00000326324.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000327229.6",
"url": "https://www.ensembl.org/id/ENSP00000327229.6"
}
]
}
},
{
"isoform_ac": "P11362-15",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSACPDLQEAKWCSASFHSITPLPFGLGTRLSD",
"length": 150,
"header": "sp|P11362-15|FGFR1_HUMAN Isoform 15 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38429299,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000484370.5",
"url": "https://www.ensembl.org/id/ENST00000484370.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000433163.1",
"url": "https://www.ensembl.org/id/ENSP00000433163.1"
}
]
}
},
{
"isoform_ac": "P11362-16",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKVIMAPVFVGQSTGKETTVSGAQVPVGRLSCPRMGSFLTLQAHTLHLSRDLATSPRTSNRGHKVEVSWEQRAAGMGGAGL",
"length": 302,
"header": "sp|P11362-16|FGFR1_HUMAN Isoform 16 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-17",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQACPDLQEAKSCSASFHSITPLPFGLGTRLSD",
"length": 61,
"header": "sp|P11362-17|FGFR1_HUMAN Isoform 17 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-18",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKVIMAPVFVGQSTGKETTVSGAQVPVGRLSCPRMGSFLTLQAHTLHLSRDLATSPRTSNRGHKVEVSWEQRAAGMGGAGL",
"length": 300,
"header": "sp|P11362-18|FGFR1_HUMAN Isoform 18 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-19",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSVPIDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKHSGINSSDAEVLTLFNVTEAQSGEYVCKVSNYIGEANQSAWLTVTRPALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 822,
"header": "sp|P11362-19|FGFR1_HUMAN Isoform 19 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-2",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 820,
"header": "sp|P11362-2|FGFR1_HUMAN Isoform 2 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000532791.5",
"url": "https://www.ensembl.org/id/ENST00000532791.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000432972.1",
"url": "https://www.ensembl.org/id/ENSP00000432972.1"
}
]
}
},
{
"isoform_ac": "P11362-20",
"url": "",
"sequence": {
"sequence": "MAAVTRDFGEMLLHSGRVLPAEAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 812,
"header": "sp|P11362-20|FGFR1_HUMAN Isoform 20 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38440372,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000335922.9",
"url": "https://www.ensembl.org/id/ENST00000335922.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000337247.5",
"url": "https://www.ensembl.org/id/ENSP00000337247.5"
}
]
}
},
{
"isoform_ac": "P11362-21",
"url": "",
"sequence": {
"sequence": "MEARVSLKRRIELTVEYPWRCGALSPTSNCRTGMWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 853,
"header": "sp|P11362-21|FGFR1_HUMAN Isoform 21 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-3",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 733,
"header": "sp|P11362-3|FGFR1_HUMAN Isoform 3 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000356207.9",
"url": "https://www.ensembl.org/id/ENST00000356207.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000348537.5",
"url": "https://www.ensembl.org/id/ENSP00000348537.5"
}
]
}
},
{
"isoform_ac": "P11362-4",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 731,
"header": "sp|P11362-4|FGFR1_HUMAN Isoform 4 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-5",
"url": "",
"sequence": {
"sequence": "MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 662,
"header": "sp|P11362-5|FGFR1_HUMAN Isoform 5 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-6",
"url": "",
"sequence": {
"sequence": "MEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 660,
"header": "sp|P11362-6|FGFR1_HUMAN Isoform 6 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-7",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR",
"length": 820,
"header": "sp|P11362-7|FGFR1_HUMAN Isoform 7 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {
"chromosome": "8",
"start_pos": 38457446,
"end_pos": 38413631,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000397113.6",
"url": "https://www.ensembl.org/id/ENST00000397113.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000380302.2",
"url": "https://www.ensembl.org/id/ENSP00000380302.2"
}
]
}
},
{
"isoform_ac": "P11362-8",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 662,
"header": "sp|P11362-8|FGFR1_HUMAN Isoform 8 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
},
{
"isoform_ac": "P11362-9",
"url": "",
"sequence": {
"sequence": "MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKVWNLKAPLVHTPRPGSQECPGDRGQCDEDSRLWPRTGHSPHRLL",
"length": 660,
"header": "sp|P11362-9|FGFR1_HUMAN Isoform 9 of Fibroblast growth factor receptor 1 OS=Homo sapiens OX=9606 GN=FGFR1 PE=1 SV=3 CANONICAL=P11362-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 117,
"start_aa": "Asn",
"end_pos": 117,
"end_aa": "Asn",
"residue": "Asn",
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{
"id": "P11362",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11362#ptm_processing"
},
{
"id": "A0A994J419",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A994J419#ptm_processing"
},
{
"id": "PIRSR000628-4",
"database": "PIR Site Rule",
"url": "https://proteininformationresource.org/cgi-bin/pirrule?id=PIRSR000628-4"
},
{
"id": "A0A804HIF1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A804HIF1#ptm_processing"
},
{
"id": "A0A3B3ISD1",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A3B3ISD1#ptm_processing"
},
{
"id": "A0A8I3B1S4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I3B1S4#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
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"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
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"start_aa": "Asn",
"end_pos": 227,
"end_aa": "Asn",
"residue": "Asn",
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{
"id": "P11362",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11362#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
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"start_pos": 240,
"start_aa": "Asn",
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"end_aa": "Asn",
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{
"id": "P11362",
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}
]
},
{
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"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 264,
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{
"id": "P11362",
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"url": ""
},
{
"id": "29671580",
"database": "PubMed",
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}
]
},
{
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{
"id": "1239",
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},
{
"id": "29671580",
"database": "PubMed",
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}
]
},
{
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{
"id": "P11362",
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},
{
"id": "24190977",
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},
{
"id": "GLY_000143",
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},
{
"id": "23090970",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23090970"
}
]
},
{
"glytoucan_ac": "",
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{
"id": "P11362",
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},
{
"id": "16335952",
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},
{
"id": "24190977",
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{
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}
]
},
{
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{
"id": "P11362",
"database": "UniCarbKB",
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},
{
"id": "29671580",
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}
]
},
{
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"id": "1239",
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{
"id": "29391424",
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}
]
},
{
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{
"id": "1239",
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{
"id": "29391424",
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}
]
},
{
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{
"id": "1239",
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{
"id": "29671580",
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}
]
},
{
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{
"id": "1239",
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{
"id": "29391424",
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}
]
},
{
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{
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]
},
{
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"id": "29741879",
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}
]
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{
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"id": "P11362",
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{
"id": "24190977",
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{
"id": "GLY_000143",
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}
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{
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]
},
{
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{
"id": "1239",
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{
"id": "29391424",
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}
]
},
{
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{
"id": "29391424",
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}
]
},
{
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{
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},
{
"id": "A0A994J419",
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},
{
"id": "P11362",
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{
"id": "A0A3B3ISD1",
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},
{
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}
]
}
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{
"database": "phospho.ELM",
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},
{
"database": "iPTMnet",
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},
{
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},
{
"database": "PubMed",
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}
],
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{
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{
"database": "phospho.ELM",
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},
{
"database": "iPTMnet",
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{
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{
"type": "PubMed",
"id": "9949182",
"url": "https://glygen.org/publication/PubMed/9949182"
}
]
}
],
"pathway": [
{
"id": "hsa:2260",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2260",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-1839122",
"name": "Signaling by activated point mutants of FGFR1",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839122",
"resource": "Reactome",
"description": "Signaling by activated point mutants of FGFR1"
},
{
"id": "R-HSA-5655302",
"name": "Signaling by FGFR1 in disease",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655302",
"resource": "Reactome",
"description": "Signaling by FGFR1 in disease"
},
{
"id": "R-HSA-8853336",
"name": "Signaling by plasma membrane FGFR1 fusions",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853336",
"resource": "Reactome",
"description": "Signaling by plasma membrane FGFR1 fusions"
},
{
"id": "R-HSA-9758919",
"name": "Epithelial-Mesenchymal Transition (EMT) during gastrulation",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758919",
"resource": "Reactome",
"description": "Epithelial-Mesenchymal Transition (EMT) during gastrulation"
},
{
"id": "R-HSA-9793380",
"name": "Formation of paraxial mesoderm",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9793380",
"resource": "Reactome",
"description": "Formation of paraxial mesoderm"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "P16092-1",
"protein_name": "Fibroblast growth factor receptor 1",
"gene_name": "Fgfr1",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MWGWKCLLFWAVLVTATLCTARPAPTLPEQAQPWGVPVEVESLLVHPGDLLQLRCRLRDDVQSINWLRDGVQLVESNRTRITGEEVEVRDSIPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRRPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMLGSVIIYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLSIPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPTQLANSGLKRR",
"length": 822
},
"evidence": [
{
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"database": "MGI"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "Q04589-1",
"protein_name": "Fibroblast growth factor receptor 1",
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"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
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"length": 822
},
"evidence": [
{
"id": "45917549",
"url": "http://www.informatics.jax.org/homology/45917549",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q09147-1",
"protein_name": "Fibroblast growth factor receptor homolog 2",
"gene_name": "btl",
"tax_id": 7227,
"organism": "Drosophila melanogaster",
"sequence": {
"sequence": "MAKVPITLVMIIAIVSAAADLGCDYGHHRCYIDVTVENSPRQRHLLSDMDITLQCVRPMAKWFYEDKFQLRATLLRLERAQSGNSGNYGCLDSQNRWYNISLVVGHKEPVGNDIASFVKLEDAPALPESDLFFQPLNESRSLKLLQPLPKTVQRTAGGLFQLNCSPMDPDAKGVNISWLHNDTQILGGRGRIKLKRWSLTVGQLQPEDAGSYHCELCVEQDCQRSNPTQLEVISRKHTVPMLKPGYPRNTSIALGDNVSIECLLEDSALEPKITWLHKGNADNIDDLLQRLREQSQLPVDVTRLITRMDEPQVLRLGNVLMEDGGWYICIAENQVGRTVAASYVDLYSPSDTTTVRTTTTTTVASPIPTASTGEDNDDDVENPAAEASGGVGPPVFRKELKRLQHSLSGNTVNLACPVYGKANITWTKDKKPLNRELGVYVQKNWTLRFVEATSEDSGLYNCKVCNAWGCIQFDFSVQINDRTRSAPIIVVPQNQTVKVNGSLVMKCTVYSDLHPTVSWKRVVLKNASLDGLKSVEIQNLNFTVTNDSVVLTLRNVTFDQEGWYTCLASSGLGRSNSSVYLRVVSPLPPLEIYALLHAHPLGFTLAAITIVALFLLGSAFITFMLRRLRREKLLKLRIETVHQWTKKVIIYRPGGEEGSGCSSGDLQMPVIRIEKQRTTVSTTGTGGTDPAQGFNEYEFPLDSNWEIPRQQLSLGSILGEGAFGRVVMAEAEGLPRSPQLAETIVAVKMVKEEHTDTDMASLVREMEVMKMIGKHINIINLLGCCSQGGPLWVIVEYAPHGNLKDFLKQNRPGAPQRRSDSDGYLDDKPLISTQHLGEKELTKFAFQIARGMEYLASRRCIHRDLAARNVLVSDGYVMKIADFGLARDIQDTEYYRKNTNGRLPIKWMAPESLQEKKYDSQSDVWSYGVLLWEIMTYGDQPYPHILSAEELYSYLITGQRMEKPAKCSLNIYVVMRQCWHFESCARPTFAELVESFDGILQQASSNPNDAYLDLSMPMLETPPSSGDEDDGSDTETFRETSPLRYQYTYKFN",
"length": 1052
},
"evidence": [
{
"id": "P11362",
"url": "https://omabrowser.org/oma/group/P11362/",
"database": "OMA"
}
],
"common_name": "Fruit fly"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 9,
"go_terms": [
{
"name": "fibroblast growth factor receptor activity",
"id": "GO:0005007",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "protein tyrosine kinase activity",
"id": "GO:0004713",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "heparin binding",
"id": "GO:0008201",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "protein homodimerization activity",
"id": "GO:0042803",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "SH2 domain binding",
"id": "GO:0042169",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "receptor-receptor interaction",
"id": "GO:0090722",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090722",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "fibroblast growth factor binding",
"id": "GO:0017134",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 7,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cytoplasmic vesicle",
"id": "GO:0031410",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "receptor complex",
"id": "GO:0043235",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 70,
"go_terms": [
{
"name": "positive regulation of cell population proliferation",
"id": "GO:0008284",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "phosphorylation",
"id": "GO:0016310",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "animal organ development",
"id": "GO:0048513",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "organ induction",
"id": "GO:0001759",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of stem cell proliferation",
"id": "GO:2000648",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "regulation of phosphate transport",
"id": "GO:0010966",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010966",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway",
"id": "GO:0090080",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "response to sodium phosphate",
"id": "GO:1904383",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of vascular endothelial cell proliferation",
"id": "GO:1905564",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "diphosphate metabolic process",
"id": "GO:0071344",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071344",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "negative regulation of transcription by RNA polymerase II",
"id": "GO:0000122",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "angiogenesis",
"id": "GO:0001525",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "in utero embryonic development",
"id": "GO:0001701",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "protein phosphorylation",
"id": "GO:0006468",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "transmembrane receptor protein tyrosine kinase signaling pathway",
"id": "GO:0007169",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of phospholipase C activity",
"id": "GO:0010863",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010863",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of neuron projection development",
"id": "GO:0010976",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cell migration",
"id": "GO:0016477",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "peptidyl-tyrosine phosphorylation",
"id": "GO:0018108",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "neuron projection development",
"id": "GO:0031175",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "inner ear morphogenesis",
"id": "GO:0042472",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of MAPK cascade",
"id": "GO:0043410",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of neuron differentiation",
"id": "GO:0045666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "stem cell differentiation",
"id": "GO:0048863",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"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": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "MAPK cascade",
"id": "GO:0000165",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "neuron migration",
"id": "GO:0001764",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "skeletal system development",
"id": "GO:0001501",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "embryonic limb morphogenesis",
"id": "GO:0030326",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of MAP kinase activity",
"id": "GO:0043406",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of cell differentiation",
"id": "GO:0045597",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "protein autophosphorylation",
"id": "GO:0046777",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "sensory perception of sound",
"id": "GO:0007605",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "regulation of cell differentiation",
"id": "GO:0045595",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of blood vessel endothelial cell migration",
"id": "GO:0043536",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "phosphatidylinositol-mediated signaling",
"id": "GO:0048015",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "skeletal system morphogenesis",
"id": "GO:0048705",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "epithelial to mesenchymal transition",
"id": "GO:0001837",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "chondrocyte differentiation",
"id": "GO:0002062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "middle ear morphogenesis",
"id": "GO:0042474",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "calcium ion homeostasis",
"id": "GO:0055074",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of phospholipase activity",
"id": "GO:0010518",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cell maturation",
"id": "GO:0048469",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "ureteric bud development",
"id": "GO:0001657",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cardiac muscle cell proliferation",
"id": "GO:0060038",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "stem cell proliferation",
"id": "GO:0072089",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cementum mineralization",
"id": "GO:0071529",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071529",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "gene expression",
"id": "GO:0010467",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "branching involved in salivary gland morphogenesis",
"id": "GO:0060445",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of mesenchymal cell proliferation",
"id": "GO:0002053",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "chordate embryonic development",
"id": "GO:0043009",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "regulation of lateral mesodermal cell fate specification",
"id": "GO:0048378",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048378",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of cardiac muscle cell proliferation",
"id": "GO:0060045",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "paraxial mesoderm development",
"id": "GO:0048339",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "midbrain development",
"id": "GO:0030901",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "fibroblast growth factor receptor signaling pathway",
"id": "GO:0008543",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "lung-associated mesenchyme development",
"id": "GO:0060484",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "mesenchymal cell proliferation",
"id": "GO:0010463",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010463",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "ventricular zone neuroblast division",
"id": "GO:0021847",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021847",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development",
"id": "GO:0035607",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035607",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling",
"id": "GO:0060665",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060665",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "auditory receptor cell development",
"id": "GO:0060117",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060117",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "vitamin D3 metabolic process",
"id": "GO:0070640",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070640",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "negative regulation of fibroblast growth factor production",
"id": "GO:0090272",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090272",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of mitotic cell cycle DNA replication",
"id": "GO:1903465",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903465",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of parathyroid hormone secretion",
"id": "GO:2000830",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000830",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "regulation of extrinsic apoptotic signaling pathway in absence of ligand",
"id": "GO:2001239",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001239",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "cell projection assembly",
"id": "GO:0030031",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "outer ear morphogenesis",
"id": "GO:0042473",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
},
{
"name": "positive regulation of endothelial cell chemotaxis to fibroblast growth factor",
"id": "GO:2000546",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000546",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "fibroblast growth factor receptor 1 N-glycosylated 1 (human)",
"definition": "A fibroblast growth factor receptor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-264 of the amino acid sequence represented by UniProtKB:P11362-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P11362-1, Asn-264, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]",
"evidence": [
{
"id": "PR:000054947",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000054947"
}
]
},
{
"name": "fibroblast growth factor receptor 1 N-glycosylated 2 (human)",
"definition": "A fibroblast growth factor receptor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-317 of the amino acid sequence represented by UniProtKB:P11362-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P11362-1, Asn-317, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
"evidence": [
{
"id": "PR:000054948",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000054948"
}
]
}
],
"site_annotation": [
{
"start_pos": 117,
"end_pos": 119,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 227,
"end_pos": 229,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 240,
"end_pos": 242,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 264,
"end_pos": 266,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 296,
"end_pos": 298,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 317,
"end_pos": 319,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 330,
"end_pos": 332,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 724,
"end_pos": 726,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 77,
"end_pos": 79,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "16507368",
"url": "https://glygen.org/publication/PubMed/16507368"
},
{
"database": "PubMed",
"id": "19665973",
"url": "https://glygen.org/publication/PubMed/19665973"
},
{
"database": "PubMed",
"id": "19224897",
"url": "https://glygen.org/publication/PubMed/19224897"
},
{
"database": "PubMed",
"id": "8622701",
"url": "https://glygen.org/publication/PubMed/8622701"
}
]
},
{
"annotation": "N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "16335952",
"url": "https://glygen.org/publication/PubMed/16335952"
},
{
"database": "PubMed",
"id": "17311277",
"url": "https://glygen.org/publication/PubMed/17311277"
},
{
"database": "PubMed",
"id": "16481405",
"url": "https://glygen.org/publication/PubMed/16481405"
}
]
},
{
"annotation": "Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and subsequent degradation of FGFR1.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11362",
"url": "https://www.uniprot.org/uniprot/P11362"
},
{
"database": "PubMed",
"id": "21765395",
"url": "https://glygen.org/publication/PubMed/21765395"
},
{
"database": "PubMed",
"id": "18480409",
"url": "https://glygen.org/publication/PubMed/18480409"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "10596",
"name": "",
"equation": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
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"D3ZDS3-1",
"D4ADZ5-1",
"F1LSG7-1",
"F1LRZ0-1",
"D3ZBN3-1",
"F1M0N1-1",
"G3V6K6-1",
"D3ZD03-1",
"D3ZZK3-1",
"E9PT20-1",
"D4A584-1",
"D3ZDH4-1",
"A0A8I5ZVE3-1",
"A0A8I6AWX7-1",
"Q4KM97-1",
"Q501W1-1",
"B5DFD6-1",
"Q5FVG7-1",
"D3ZCD0-1",
"A0A8I5ZP97-1",
"A0A0G2JW59-1",
"B1WC09-1",
"Q01134-1",
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"evidence": [
{
"id": "10596",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/10596"
}
]
},
{
"id": "R-HSA-1839094",
"name": "Activated FGFR1 mutants and fusions bind PLCG1",
"equation": "",
"summary": "Although it has not been rigourously established, there is some evidence that PLC-gamma signaling may be activated after autophosphorylation of some FGFR mutants, analagous to the wild type receptor (see for instance, Hart, 2000; Chen, 2005; Cha, 2008; di Martino, 2009; Gartside, 2009; Cross, 2000; Hatch, 2006). The extent to which each of the mutants activates this pathway and to which proliferation and tumorigenesis relies on PLC-gamma dependent signaling, remains to be more firmly established. FGFR1 fusions with ZMYM2, BCR, FGFR1OP and TRIM24 all result in recruitment and phosphorylation of PLCgamma, and where mutational studies have been performed, mutation of the PLCgamma binding site Y766 has been shown to abrogate this signaling (Guasch, 2001; Roumiantsev, 2004, Lelievre, 2008, Chase, 2007). In the case of BCR-FGFR1 and ZMYM2-FGFR1, mutation of the PLCgamma binding site significantly decreased the transformative phenotype of the FGFR1 fusion (Roumiantsev, 2004).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15164-1",
"P19174-1",
"P11362-1",
"P11274-1"
],
"evidence": [
{
"id": "R-HSA-1839094",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839094"
}
]
},
{
"id": "R-HSA-1839098",
"name": "Activated FGFR1 mutants and fusions phosphorylate PLCG1",
"equation": "",
"summary": "By analogy with the wild-type pathway, PLC-gamma is presumed to be phosphorylated by activated FGFR mutants, resulting in PLC-gamma activation, stimulation of phosphatidyl inositol hydrolysis and generation of two second messengers, diacylglycerol and inositol (1,4,5) P3.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15164-1",
"P19174-1",
"P11362-1",
"P11274-1"
],
"evidence": [
{
"id": "R-HSA-1839098",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839098"
}
]
},
{
"id": "R-HSA-1839100",
"name": "p-4Y- PLCG1 dissociates from activated FGFR1 mutants and fusions",
"equation": "",
"summary": "Dissociation from the activated receptor quickly follows phosphorylation of PLC-gamma. Phosphorylated PLC-gamma catalyzes the hydrolysis of phosphatidylinositol(4, 5)bisphosphate to generate two second messengers, diacylglycerol and inositol (1,4,5) triphosphate.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15164-1",
"P19174-1",
"P11362-1",
"P11274-1"
],
"evidence": [
{
"id": "R-HSA-1839100",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1839100"
}
]
},
{
"id": "R-HSA-2023456",
"name": "Dimerization of FGFR1 point mutants with enhanced kinase activity",
"equation": "",
"summary": "Large scale genomic characterization of glioblastoma tumors has identified three point mutants in the kinase domain of FGFR1: N546K, R576W and K656E (Rand, 2005, TCGA, 2008), representing the first kinase domain point mutants identified in this gene in any cancer. These mutants are believed or have been shown to have enhanced kinase activity and to be able to function in a ligand-independent manner (Petiot, 2002; Lew, 2009; Raffioni, 1998, Rand, 2005; Hart, 2000)",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-2023456",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2023456"
}
]
},
{
"id": "R-HSA-2023460",
"name": "Autocatalytic phosphorylation of FGFR1 mutants with enhanced kinase activity",
"equation": "",
"summary": "The three kinase domain mutants of FGFR1 that have been identified in glioblastoma are predicted or have been shown to result in enhanced kinase activity. The N546K (Rand, 2005) residue lies in a stretch of 9 amino acids that are conserved between all four FGFRs. Mutation of the paralogous residue in FGFR3 (N540K) has been shown to result in weak ligand-independent contstitutive activation in the autosomal disorder hypochodroplasia (Raffioni, 1998). In FGFR2 mutation of the paralogous residue to lysine has been identified in endometrial cancer and been shown to result in enhanced kinase activity (Dutt, 2008; Pollock, 2008); germline mutations at this site in FGFR2 are also associated with the development of Crouzon and Pfeiffer syndromes (Kan, 2002). The FGFR1 N546K mutations has accelerated rates of autophosphorylation and supports transformation when transfected into Rat-1 cells (Lew, 2009).
The FGFR1 K656E (TCGA, 2008) mutation is paralogous to activating mutations in FGFR3 kinase domain associated with the development of thanatophoric dysplasias (Tavormina, 1999; Bellus, 2000; Hart, 2000), and has itself been shown to activating when expressed in neural crest cells (Petiot, 2002).
The FGFR1 R576W (Rand, 2005) mutation increases the hydrophobicity of the receptor, and is postulated to enhance protein-protein interactions and thereby increase the likelihood of autophosphorylation of adjacent tyrosine residues, although this has not been explicitly demonstrated.
",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-2023460",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2023460"
}
]
},
{
"id": "R-HSA-5655240",
"name": "Activated FGFR1 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1",
"equation": "",
"summary": "FGFR1-amplified cells derived from lung cancer patients show phosphorylation of AKT and S6, demonstrating the activation of the PI3K signaling pathway in these lines. Inhibition of FGFR1 phosphorylation by treatment with the in vitro reagent PD173074 did not abrogate the phosphorylation of these substrates, however, indicating that the PI3K pathway is not the major signaling pathway activated by amplified FGFR1 (Weiss, 2010; Dutt, 2011). Activation of the PI3K pathway has also been demonstrated downstream of other FGFR mutants (see for instance, Agazie, 2003; Kunii, 2008, Takeda, 2007; Byron, 2008; Demiroglu, 2001; Guasch, 2001; Chen, 2004); however not all mutants activate the PI3K pathway to the same extent and in the case of the rhabdomyosarcoma FGFR4 mutants K535 and E550, phosphorylation of AKT is actually reduced compared to wild-type signaling (Taylor, 2009).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655240",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655240"
}
]
},
{
"id": "R-HSA-5655263",
"name": "Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA",
"equation": "",
"summary": "Activation of the PI3K pathway has been demonstrated downstream of a number of FGFR mutants (reviewed in Wesche, 2001; see for instance, Agazie, 2003; Kunii, 2008; Takeda, 2007; Chen, 2004; Demiroglu, 2001; Guasch, 2001; Byron, 2008), and is presumed to occur in a manner analogous to the wild-type receptor.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655263",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655263"
}
]
},
{
"id": "R-HSA-5655266",
"name": "Activated FGFR1 mutants:p-FRS2 binds GRB2-SOS1",
"equation": "",
"summary": "Activation of FGFR mutants has in some cases been shown to result in phosphorylation of both FRS2 (also known as FRS2alpha) and ERK1/2, suggesting activation of the MAPK pathway through wild-type like recruitment of the GRB2-SOS1 complex (reviewed in Wesche, 2011; see for instance, Weiss, 2010; Dutt, 2011; Raffioni, 1998; Hart, 2000).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655266",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655266"
}
]
},
{
"id": "R-HSA-5655269",
"name": "Activated FGFR1 mutants bind FRS2",
"equation": "",
"summary": "After activation, FGFR mutants are presumed to recruit FRS2 (also known as FRS2alpha). This has been demonstrated in some cases (see for instance Ahmed, 2008; Weiss, 2010; Dutt, 2008; Dutt, 2011; Cha, 2009; Qing, 2009; Bai, 2010 ) and is inferred to occur in others by analogy with the wild-type receptor.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655269",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655269"
}
]
},
{
"id": "R-HSA-5655278",
"name": "Activated FGFR1 mutants phosphorylate FRS2",
"equation": "",
"summary": "After recruitment to activated FGFR mutants, FRS2 is believed to be phosphorylated, potentially on all 6 of the tyrosines phosphorylated by wild-type FGFRs. Phosphorylation of FRS2 by FGFR has been demonstrated in some cases (see for instance Qing, 2009; Bai, 2010; Ahmed, 2008; Raffioni, 1998) and is inferred to occur in others based on activation of downstream signaling modules (reviewed in Wesche, 2011; Turner and Grose, 2010).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655278",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655278"
}
]
},
{
"id": "R-HSA-5655290",
"name": "Activated FGFR1 mutant-associated PI3K phosphorylates PIP2 to PIP3",
"equation": "",
"summary": "Once recruited to the activated receptor, PI3K phosphorylates PIP2 to PIP3, leading to activation of AKT signaling. PI3K signaling has been demonstrated in ZMYM2-, FOP- and BCR-FGFR1 fusions (Chen, 2004; Demiroglu, 2001; Guasch, 2001), as well as downstream of a number of other FGFR mutants (see for instance, Byron, 2008; Kunii, 2008; Agazie, 2003; Takeda, 2007).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P42336-1",
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-5655290",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655290"
}
]
},
{
"id": "R-HSA-5655326",
"name": "Activated FGFR1 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange",
"equation": "",
"summary": "Activation of Erk1/2 downstream of FGFR mutants suggests that, as is the case for WT FGFR, FGFR mutant-associated SOS1 activates RAS nucleotide exchange from the inactive GDP-bound to the active GTP-bound state (see for instance, Weiss, 2010; Dutt, 2011; Raffioni, 1998; Cha, 2009; Hart, 2000; Turner, 2010; Kunii, 2008; Byron, 2008; Roidl, 2010; Chesi, 2001; Ronchetti, 2001; reviewed in Wesche, 2011).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P01111-1",
"P11362-1",
"P01112-1"
],
"evidence": [
{
"id": "R-HSA-5655326",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5655326"
}
]
},
{
"id": "R-HSA-8853322",
"name": "Plasma membrane FGFR1 fusions dimerize",
"equation": "",
"summary": "Although dimerization of the FGFR1 fusions in glioblastoma, breast cancer and non small cell lung cancer hasn't been directly demonstrated, the ability of these proteins to promote transformation and tumorigenesis suggests that they form active oligomers as is the case for WT FGFR1 proteins (Singh et al, 2012; Wang et al, 2013; Wang et al, 2014; reviewed in Parker et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-8853322",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853322"
}
]
},
{
"id": "R-HSA-8853325",
"name": "Plasma membrane FGFR1 fusions autophosphorylate",
"equation": "",
"summary": "Although it hasn't been directly demonstrated in all cases, the ability to promote transformation and anchorage independent growth suggests these fusions undergo autophosphorylation similar to WT FGFR1 proteins. Indeed, active kinase activity has been demonstrated for the the ERLIN2-FGFR1 fusion identified in breast cancer (Singh et al, 2012; Wu et al, 2013; Wang et al, 2014; reviewed in Parker et al, 2014)",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-8853325",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853325"
}
]
},
{
"id": "R-HSA-9756439",
"name": "Expression of SNAI1 during gastrulation",
"equation": "",
"summary": "The Snail1 (SNAI1) gene is transcribed to yield mRNA and the mRNA is translated to yield SNAI1 protein. Transcription of SNAI1 is activated by EOMES and TBXT (inferred from mouse homologs) and by FGF signaling via FGFR1 (inferred from mouse homologs).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-9756448"
],
"output_participant_list": [
"R-HSA-2980903"
],
"enzyme_list": [
"P11362-1"
],
"evidence": [
{
"id": "R-HSA-9756439",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9756439"
}
]
},
{
"id": "R-HSA-9793383",
"name": "Expression of TBX6 in paraxial mesoderm",
"equation": "",
"summary": "TBX6 is expressed in the primitive streak and then continues in the paraxial mesoderm (Xi et al. 2017 and inferred from the mouse homolog). NOTCH signaling acting through RBPJ directly activates expression of TBX6 in paraxial mesoderm (inferred from mouse homologs). WNT signaling and FGF signaling also directly or indirectly activate expression of TBX6 in paraxial mesoderm (inferred from mouse homologs). TBXT is not required for initial activation of TBX6 expression, but is required for maintenance of TBX6 expression (inferred from mouse homologs). Mesogenin1 (MSGN1), which is itself activated by TBX6, activates TBX6 in a reinforcing loop (inferred from mouse homologs).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-9793371"
],
"output_participant_list": [
"R-HSA-9793377"
],
"enzyme_list": [
"Q92830-1",
"P11362-1",
"Q09472-1",
"Q92793-1",
"Q92831-1"
],
"evidence": [
{
"id": "R-HSA-9793383",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9793383"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-2980903",
"participant_name": "SNAI1 [nucleoplasm]",
"crossref": [
{
"id": "29814",
"database": "Orphanet",
"url": ""
},
{
"id": "4QLI",
"database": "PDB",
"url": ""
},
{
"id": "HMDBP14022",
"database": "HMDB Protein",
"url": ""
},
{
"id": "O95863",
"database": "PRO",
"url": ""
},
{
"id": "ENSG00000124216",
"database": "OpenTargets",
"url": ""
},
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