{
"uniprot_canonical_ac": "O94911-3",
"uniprot_ac": "O94911",
"uniprot_id": "ABCA8_HUMAN",
"mass": {
"chemical_mass": 183677.0,
"monoisotopic_mass": 183677.0
},
"refseq": {
"ac": "NP_001275914",
"name": "ABC-type organic anion transporter ABCA8 isoform 1",
"summary": "The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
"gene_names": [
{
"name": "ABCA8",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O94911",
"id": "O94911"
},
{
"name": "ABCA8",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914",
"id": "NP_001275914"
},
{
"name": "KIAA0822",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O94911",
"id": "O94911"
}
],
"protein_names": [
{
"name": "ABC-type organic anion transporter ABCA8",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O94911"
},
{
"name": "7.6.2.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O94911"
},
{
"name": "ABC-type organic anion transporter ABCA8 isoform 1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914",
"id": "NP_001275914"
},
{
"name": "ATP-binding cassette sub-family A member 8",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O94911"
},
{
"name": "ATP-binding cassette, sub-family A (ABC1), member 8; ABC-type organic anion transporter ABCA8",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914",
"id": "NP_001275914"
}
],
"function": [
{
"annotation": "ABCA8 facilitates cholesterol efflux and modulates HDL-cholesterol levels.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "28882873",
"url": "https://glygen.org/publication/PubMed/28882873"
}
]
},
{
"annotation": "ABCA8 inhibits breast cancer cell proliferation by regulating the AMP activated protein kinase/mammalian target of rapamycin signaling pathway.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "35191604",
"url": "https://glygen.org/publication/PubMed/35191604"
}
]
},
{
"annotation": "ABCA8 is regulated by miR-374b-5p and inhibits proliferation and metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "32430024",
"url": "https://glygen.org/publication/PubMed/32430024"
}
]
},
{
"annotation": "Catalyzes ATP-dependent efflux of cholesterol and taurocholate (PubMed:29300488). Interaction with ABCA1 potentiates cholesterol efflux to lipid-free APOA1, which regulates high-density lipoprotein cholesterol levels (PubMed:28882873).",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911#function"
},
{
"database": "PubMed",
"id": "28882873",
"url": "https://glygen.org/publication/PubMed/28882873"
},
{
"database": "PubMed",
"id": "29300488",
"url": "https://glygen.org/publication/PubMed/29300488"
}
]
},
{
"annotation": "Catalyzes ATP-dependent import of organic anions such as taurocholate and estrone sulfate (PubMed:12379217). In vitro, also imports ochratoxin A (PubMed:12379217). Also mediates cholesterol efflux independent of apolipoprotein, and plays a role in sphingomyelin production in oligodendrocytes (PubMed:23560799).",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911#function"
},
{
"database": "PubMed",
"id": "23560799",
"url": "https://glygen.org/publication/PubMed/23560799"
},
{
"database": "PubMed",
"id": "12379217",
"url": "https://glygen.org/publication/PubMed/12379217"
}
]
},
{
"annotation": "Functional analysis of the transport properties of ABCA8.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "12379217",
"url": "https://glygen.org/publication/PubMed/12379217"
}
]
},
{
"annotation": "Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in Stomach Adenocarcinoma. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "32685482",
"url": "https://glygen.org/publication/PubMed/32685482"
}
]
},
{
"annotation": "Study results suggest that mABCA8b/ABCA8 functions as a sinusoidal efflux transporter for at least cholesterol and taurocholate in mouse and human liver.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
},
{
"database": "PubMed",
"id": "29300488",
"url": "https://glygen.org/publication/PubMed/29300488"
}
]
},
{
"annotation": "The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001275914",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275914"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "rs371975356",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371975356"
},
{
"id": "rs371975356",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371975356"
},
{
"id": "rs371975356",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs371975356#frequency_tab"
},
{
"id": "rs371975356",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs371975356"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 969,
"end_pos": 969,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SFS->NFS); n-glyco-sequon-loss (NYS->NYN).",
"chr_id": "17",
"chr_pos": "68894303",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S969",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O94911",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94911"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1073,
"end_pos": 1073,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVS->NVS).",
"chr_id": "17",
"chr_pos": "68887434",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "D1073",
"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"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs748827642",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748827642"
},
{
"id": "rs748827642",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748827642"
},
{
"id": "rs748827642",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs748827642"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1135,
"end_pos": 1135,
"sequence_org": "G",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSG->NSS).",
"chr_id": "17",
"chr_pos": "68887043",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "G1135",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs768470778",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768470778"
},
{
"id": "rs768470778",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768470778"
},
{
"id": "rs768470778",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs768470778"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 121,
"end_pos": 121,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYP->NYS).",
"chr_id": "17",
"chr_pos": "68937056",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P121",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O94911",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94911"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 1226,
"end_pos": 1226,
"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 (KKS->NKS).",
"chr_id": "17",
"chr_pos": "68883820",
"ref_nt": "C",
"alt_nt": "G",
"minor_allelic_frequency": "",
"site_lbl": "K1226",
"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": ""
},
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"name": "gastric cancer",
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{
"id": "MONDO:0001056",
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"name": "gastric neoplasm",
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},
{
"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",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant gastric tumor",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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"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",
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"name": "malignant neoplasm of the stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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{
"id": "MONDO:0001056",
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{
"id": "MONDO:0001056",
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{
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{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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{
"id": "MONDO:0001056",
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{
"id": "MONDO:0001056",
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{
"id": "MIM:613659",
"resource": "MIM",
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"name": "Gastric cancer",
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},
{
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{
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"name": "urinary bladder cancer",
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{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumour",
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{
"id": "MIM:109800",
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]
},
{
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{
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{
"id": "DOID:10283",
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{
"id": "DOID:10283",
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},
{
"id": "DOID:10283",
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{
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{
"id": "DOID:10283",
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{
"id": "DOID:10283",
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"name": "tumor of the prostate",
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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"name": "prostate cancer, hereditary, 9",
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},
{
"id": "MONDO:0012597",
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},
{
"id": "MONDO:0012597",
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{
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},
{
"id": "MONDO:0012741",
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"name": "EHBP1 familial prostate cancer",
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},
{
"id": "MONDO:0012741",
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"url": "https://monarchinitiative.org/disease/MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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},
{
"id": "MONDO:0012741",
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{
"id": "MONDO:0012741",
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},
{
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},
{
"id": "MONDO:0012244",
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"name": "prostate cancer, hereditary, 5",
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},
{
"id": "MONDO:0012244",
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"name": "prostate cancer, hereditary, type 5",
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},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
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},
{
"id": "MONDO:0012093",
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"name": "prostate cancer, hereditary, 3",
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
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},
{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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"name": "prostate cancer, susceptibility to, 4",
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
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{
"id": "MONDO:0012758",
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{
"id": "MONDO:0012758",
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"name": "MSMB familial prostate cancer",
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},
{
"id": "MONDO:0012758",
"resource": "MONDO",
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"name": "familial prostate cancer caused by mutation in MSMB",
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},
{
"id": "MONDO:0012758",
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"name": "prostate cancer, hereditary, 13",
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},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0012758",
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"name": "HPC13",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
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"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
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"name": "prostate cancer, hereditary, type 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
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"name": "HPC8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
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"name": "prostate cancer, susceptibility to",
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},
{
"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",
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},
{
"id": "MONDO:0012300",
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},
{
"id": "MONDO:0012300",
"resource": "MONDO",
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},
{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
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},
{
"id": "MONDO:0012620",
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},
{
"id": "MONDO:0012620",
"resource": "MONDO",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
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},
{
"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",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
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},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
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},
{
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},
{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
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},
{
"id": "MONDO:0012470",
"resource": "MONDO",
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},
{
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"resource": "MONDO",
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},
{
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{
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{
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{
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"resource": "MONDO",
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{
"id": "MONDO:0011098",
"resource": "MONDO",
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},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
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},
{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
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},
{
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"resource": "MONDO",
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},
{
"id": "MONDO:0011098",
"resource": "MONDO",
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},
{
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},
{
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{
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},
{
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},
{
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"resource": "MONDO",
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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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"resource": "MONDO",
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{
"id": "MONDO:0010257",
"resource": "MONDO",
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{
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"resource": "MONDO",
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},
{
"id": "MONDO:0010405",
"resource": "MONDO",
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},
{
"id": "MONDO:0010405",
"resource": "MONDO",
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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:0001056",
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},
{
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{
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{
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{
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
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},
{
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{
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},
{
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{
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{
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},
{
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{
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},
{
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{
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},
{
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{
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{
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{
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{
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{
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},
{
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},
{
"id": "MONDO:0001056",
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{
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},
{
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},
{
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},
{
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{
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},
{
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]
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{
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{
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{
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{
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{
"id": "DOID:1612",
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},
{
"id": "MONDO:0016419",
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"url": "https://monarchinitiative.org/disease/MONDO:0016419",
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{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
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},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0016419",
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},
{
"id": "MONDO:0016419",
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},
{
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"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"
}
]
}
],
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},
{
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"end_pos": 799,
"sequence_org": "S",
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"chr_id": "17",
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},
{
"evidence": [
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{
"id": "rs370259792",
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"alt_nt": "null",
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"keywords": [
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]
},
{
"evidence": [
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},
{
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{
"id": "rs754985708",
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],
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],
"start_pos": 831,
"end_pos": 831,
"sequence_org": "M",
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},
{
"evidence": [
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},
{
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{
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],
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"start_pos": 919,
"end_pos": 919,
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"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).",
"chr_id": "17",
"chr_pos": "68902721",
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},
{
"evidence": [
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},
{
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"database": "ExAC",
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{
"id": "rs757870888",
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"url": "http://gnomad.broadinstitute.org/awesome?query=rs757870888"
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],
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"sequence_mut": "I",
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}
],
"mutagenesis": [],
"expression_tissue": [
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"score": "82.26",
"present": "HIGH",
"evidence": [
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},
{
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},
{
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},
{
"tissue": {
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"present": "HIGH",
"evidence": [
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"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
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]
},
{
"tissue": {
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"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
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},
{
"tissue": {
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"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "94.35",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
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"score": "77.56",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
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"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "92.96",
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"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
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"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "92.33",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "94.85",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "93.87",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "85.58",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "88.93",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000141338",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000141338"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
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},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
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"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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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",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"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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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "stomach cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "Ca body - stomach",
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},
{
"id": "MONDO:0001056",
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"name": "ca greater curvature of stomach",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
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},
{
"id": "MIM:613659",
"resource": "MIM",
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"name": "Gastric cancer",
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]
}
]
},
{
"significant": "Yes",
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{
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
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{
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
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},
{
"id": "MONDO:0001187",
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},
{
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},
{
"id": "MONDO:0001187",
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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:0001187",
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},
{
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{
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}
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},
{
"significant": "Yes",
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]
},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
"id": "MONDO:0012955",
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},
{
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},
{
"id": "MONDO:0013631",
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{
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{
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},
{
"id": "MONDO:0008903",
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},
{
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{
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{
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},
{
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},
{
"id": "MONDO:0008903",
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{
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{
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{
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},
{
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},
{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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{
"id": "MONDO: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": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"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": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"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": "Yes",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O94911",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94911"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://www.uniprot.org/uniprot/O94911",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O94911-1",
"url": "https://www.uniprot.org/uniprot/O94911-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O94911-2",
"url": "https://www.uniprot.org/uniprot/O94911-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "O94911-3",
"url": "https://www.uniprot.org/uniprot/O94911-3",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFEKILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIGFLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP",
"length": 1621,
"header": "sp|O94911-3|ABCA8_HUMAN Isoform 3 of ABC-type organic anion transporter ABCA8 OS=Homo sapiens OX=9606 GN=ABCA8 PE=1 SV=4 CANONICAL=O94911-3"
},
"isoforms": [
{
"isoform_ac": "O94911-1",
"url": "",
"sequence": {
"sequence": "MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFEKILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIGFLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP",
"length": 1581,
"header": "sp|O94911-1|ABCA8_HUMAN Isoform 1 of ABC-type organic anion transporter ABCA8 OS=Homo sapiens OX=9606 GN=ABCA8 PE=1 SV=4 CANONICAL=O94911-3"
},
"locus": {
"chromosome": "17",
"start_pos": 68942034,
"end_pos": 68868088,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000269080.6",
"url": "https://www.ensembl.org/id/ENST00000269080.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000269080.1",
"url": "https://www.ensembl.org/id/ENSP00000269080.1"
}
]
}
},
{
"isoform_ac": "O94911-2",
"url": "",
"sequence": {
"sequence": "MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFW",
"length": 266,
"header": "sp|O94911-2|ABCA8_HUMAN Isoform 2 of ABC-type organic anion transporter ABCA8 OS=Homo sapiens OX=9606 GN=ABCA8 PE=1 SV=4 CANONICAL=O94911-3"
},
"locus": {}
},
{
"isoform_ac": "O94911-3",
"url": "",
"sequence": {
"sequence": "MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFEKILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIGFLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP",
"length": 1621,
"header": "sp|O94911-3|ABCA8_HUMAN Isoform 3 of ABC-type organic anion transporter ABCA8 OS=Homo sapiens OX=9606 GN=ABCA8 PE=1 SV=4 CANONICAL=O94911-3"
},
"locus": {
"chromosome": "17",
"start_pos": 68942034,
"end_pos": 68868088,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000586539.6",
"url": "https://www.ensembl.org/id/ENST00000586539.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000467271.1",
"url": "https://www.ensembl.org/id/ENSP00000467271.1"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 1270,
"start_aa": "Asn",
"end_pos": 1270,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn1270",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 1308,
"start_aa": "Asn",
"end_pos": 1308,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn1308",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 1373,
"start_aa": "Asn",
"end_pos": 1373,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn1373",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 1435,
"start_aa": "Asn",
"end_pos": 1435,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn1435",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 194,
"start_aa": "Asn",
"end_pos": 194,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn194",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 243,
"start_aa": "Asn",
"end_pos": 243,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn243",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 484,
"start_aa": "Asn",
"end_pos": 484,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn484",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 555,
"start_aa": "Asn",
"end_pos": 555,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn555",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 616,
"start_aa": "Asn",
"end_pos": 616,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn616",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 71,
"start_aa": "Asn",
"end_pos": 71,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn71",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 724,
"start_aa": "Asn",
"end_pos": 724,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn724",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 797,
"start_aa": "Asn",
"end_pos": 797,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn797",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 84,
"start_aa": "Asn",
"end_pos": 84,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn84",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 919,
"start_aa": "Asn",
"end_pos": 919,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn919",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 948,
"start_aa": "Asn",
"end_pos": 948,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn948",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 967,
"start_aa": "Asn",
"end_pos": 967,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn967",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911#ptm_processing"
}
]
}
],
"phosphorylation": [
{
"start_pos": 1173,
"end_pos": 1173,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O94911",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94911"
},
{
"database": "PubMed",
"id": "32387766",
"url": ""
}
],
"site_lbl": "Thr1173"
},
{
"start_pos": 1581,
"end_pos": 1581,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O94911",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94911"
},
{
"database": "PubMed",
"id": "32387766",
"url": ""
}
],
"site_lbl": "Ser1581"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycoprotein",
"glycoprotein_predicted"
],
"publication": [
{
"title": "Profound differences in the transport of steroids by two mouse P-glycoproteins.",
"journal": "Biochemical pharmacology",
"date": "1999",
"authors": "Gruol DJ, Vo QD, Zee MC",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556"
}
],
"reference": [
{
"type": "PubMed",
"id": "10484077",
"url": "https://glygen.org/publication/PubMed/10484077"
}
]
},
{
"title": "Interaction of docetaxel (`Taxotere`) with human P-glycoprotein.",
"journal": "Japanese journal of cancer research : Gann",
"date": "1999",
"authors": "Shirakawa K, Takara K, Tanigawara Y, Aoyama N, Kasuga M, Komada F, Sakaeda T, Okumura K",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-382556",
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"total": 8,
"go_terms": [
{
"name": "sphingomyelin biosynthetic process",
"id": "GO:0006686",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "lipid transport",
"id": "GO:0006869",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "positive regulation of cholesterol efflux",
"id": "GO:0010875",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "transmembrane transport",
"id": "GO:0055085",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "cholesterol efflux",
"id": "GO:0033344",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "cholesterol transport",
"id": "GO:0030301",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "regulation of cholesterol efflux",
"id": "GO:0010874",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "xenobiotic transport",
"id": "GO:0042908",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 6,
"go_terms": [
{
"name": "lipid transporter activity",
"id": "GO:0005319",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "ATPase-coupled transmembrane transporter activity",
"id": "GO:0042626",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "ABC-type xenobiotic transporter activity",
"id": "GO:0008559",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "ATP hydrolysis activity",
"id": "GO:0016887",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "ABC-type transporter activity",
"id": "GO:0140359",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 4,
"go_terms": [
{
"name": "endoplasmic reticulum",
"id": "GO:0005783",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "plasma membrane",
"id": "GO:0005886",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "basolateral plasma membrane",
"id": "GO:0016323",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
},
{
"name": "intracellular membrane-bounded organelle",
"id": "GO:0043231",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231",
"evidence": [
{
"database": "UniProtKB",
"id": "O94911",
"url": "https://www.uniprot.org/uniprot/O94911"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 1270,
"end_pos": 1272,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1308,
"end_pos": 1310,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1373,
"end_pos": 1375,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 194,
"end_pos": 196,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 243,
"end_pos": 245,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 484,
"end_pos": 486,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 555,
"end_pos": 557,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 616,
"end_pos": 618,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 71,
"end_pos": 73,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 724,
"end_pos": 726,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 797,
"end_pos": 799,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 84,
"end_pos": 86,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 919,
"end_pos": 921,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 948,
"end_pos": 950,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 967,
"end_pos": 969,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "39051",
"name": "",
"equation": "ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P58428-3",
"Q99PE7-1",
"D3ZCM3-1",
"Q8CF82-1",
"A0A0G2K1Q8-1",
"O95477-1",
"P45844-1",
"Q9H221-1",
"Q9H222-1",
"Q86UQ4-1",
"O94911-3",
"Q8WWZ7-1",
"Q99758-1",
"Q9H172-1",
"P41233-1",
"Q64343-1",
"Q9DBM0-1",
"Q99PE8-1",
"Q8R420-1",
"Q8K440-1",
"Q8K442-1",
"Q8K448-1",
"Q5SSE9-1",
"Q91WA9-1"
],
"evidence": [
{
"id": "39051",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/39051"
}
]
},
{
"id": "50052",
"name": "",
"equation": "ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O70127-1",
"O88563-1",
"O95342-1",
"O15438-1",
"O94911-3",
"Q96J66-1",
"Q9QY30-1",
"Q8K440-1",
"Q8K442-1",
"B2RX12-1"
],
"evidence": [
{
"id": "50052",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/50052"
}
]
},
{
"id": "65956",
"name": "",
"equation": "ATP + estrone 3-sulfate(out) + H2O = ADP + estrone 3-sulfate(in) + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O94911-3"
],
"evidence": [
{
"id": "65956",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/65956"
}
]
},
{
"id": "65960",
"name": "",
"equation": "ATP + H2O + leukotriene C4(out) = ADP + H(+) + leukotriene C4(in) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O94911-3"
],
"evidence": [
{
"id": "65960",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/65960"
}
]
},
{
"id": "65964",
"name": "",
"equation": "ATP + H2O + taurocholate(out) = ADP + H(+) + phosphate + taurocholate(in)",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O94911-3"
],
"evidence": [
{
"id": "65964",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/65964"
}
]
},
{
"id": "65968",
"name": "",
"equation": "17beta-estradiol 17-O-(beta-D-glucuronate)(out) + ATP + H2O = 17beta-estradiol 17-O-(beta-D-glucuronate)(in) + ADP + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O94911-3"
],
"evidence": [
{
"id": "65968",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/65968"
}
]
},
{
"id": "R-HSA-1467457",
"name": "ABCA8,B1,B5 transport xenobiotics from cytosol to extracellular region",
"equation": "",
"summary": "Some members of the ABC transporter superfamily are able to mediate the efflux of a broad range of cytotoxic drugs from cells, leading to the name multidrug resistance (MDR) proteins (Seeger and van Veen 2009). The ABCB1 (P-glycoprotein 1[PGP], multidrug resistance protein 1 [MRP1]) is the most characterised MDR (Shen et al. 1986, Gottesman & Pastan 1988). ABCB5 (Frank et al. 2005) and ABCA8 (Tsuruoka et al. 2002) are newer members of MDRs.
The ABCB1 (also known as MDR1, P-glycoprotein, or PGP) is the best characterized xenobiotic transporter of the ABC transporter family (Shen et al. 1986, Gottesman and Pastan 1988). The ABCB1 gene maps to the chromosomal band 7q21, which is frequently gained or amplified in cancer (Genovese et al. 2017). Transcription of ABCB1 is negatively regulated by TP53 (p53) and positively regulated by CEBPB (C/EBPbeta), JUN (AP-1), NFYB (NF-Y) and YBX1 (YB-1) (Chen and Sikic 2012). ABCB1 is a 12-pass transmembrane protein with two ATP-binding domains (Chen et al. 1986, Gottesman et al. 2002).The question of how many molecules of ATP are hydrolyzed for the full conformational change cycle and export of xenobiotic substrates out of the cell is not settled. The best biochemical evidence is for one molecule of ATP (Shapiro and Ling, 1998; with a review of methods). Structural studies point to the binding of two molecules but do not allow statements about ATP hydrolysis stoichiometry (reviewed in Jones and George, 2020).
Many anti-cancer drugs and anti-inflammatory drugs, as well as some antibiotics, are exported from the cell by ABCB1 (reviewed by Ambudkar et al. 1999, Gottesman et al. 2002).
Anti-cancer drugs that are substrates of ABCB1 include:
actinomycin D (Horio et al. 1989, Ambudkar et al. 1992, Hill et al. 2013);
bisantrene (Zhang et al. 1994, Aksentijevich et al. 1996);
daunorubicin (Horio et al. 1989, Ambudkar et al. 1992);
docetaxel (Shirakawa et al. 1999);
doxorubicin (Ueda et al. 1987, Ambudkar et al. 1992);
etoposide (Pastan et al. 1988, Lincke et al. 1990, Klamt et al. 2008);
imatinib (Dai et al. 2003);
irinotecan (Paule et al. 2010, Tagen et al. 2010);
melphalan (K\u00fchne et al. 2009);
paclitaxel (Jang et al. 2001);
temozolomide (Munoz et al. 2015);
teniposide (Boiocchi et al. 1992);
vinblastine (Ueda et al. 1987, Ambudkar et al. 1992);
vincristine (Horio et al. 1989).
Anti-inflammatory drugs that are substrates of ABCB1 include:
budenoside (Dilger et al. 2004);
colchicine (Ueda et al. 1987);
dexamethasone (Gruol et al. 1999, Yates et al. 2003);
methylprednisolone (Yates et al. 2003, Cuppen et al. 2017);
prednisolone (PREDL) (Karssen et al. 2002, Yates et al. 2003);
prednisone (PREDN) (Dilger et al. 2004).
The presence of 11-, 17-, and 21-hydroxyl groups appears to be a critical determinant for transport efficiency of steroids by the efflux pump ABCB1 (MDR1). Prednisone contains the 17-, and prednisolone both the 17- and 21-hydroxy groups, and both molecules are effectively exported out of cells expressing ABCB1, with reduced intracellular accumulation and toxicity (Yates et al, 2003).
Antibiotics that are substrates of ABCB1 include:
gramicidin D (Lincke et al. 1990, Mechetner and Roninson 1992);
azithromycin (Muni\u0107 et al. 2010);
erythromycin (Dey et al. 2004, Muni\u0107 et al. 2010).",
"cellular_location": "cytosol, extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O94911-3",
"Q2M3G0-4",
"P08183-1"
],
"evidence": [
{
"id": "R-HSA-1467457",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1467457"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "A0A0G2K1Q8",
"gene_name": "Abca3",
"activity": [
{
"ec_number": "7.6.2.1",
"activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.",
"evidence": [
{
"id": "A0A0G2K1Q8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K1Q8"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "A0A0G2K1Q8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K1Q8"
}
]
},
{
"ec_number": "7.6.2.1",
"activity": "",
"evidence": [
{
"id": "A0A0G2K1Q8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2K1Q8"
}
]
}
]
},
{
"uniprot_ac": "B2RX12",
"gene_name": "Abcc3",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "B2RX12",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RX12"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "B2RX12",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RX12"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "B2RX12",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RX12"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "B2RX12",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RX12"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "B2RX12",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/B2RX12"
}
]
}
]
},
{
"uniprot_ac": "D3ZCM3",
"gene_name": "Abcg4",
"activity": [
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "D3ZCM3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZCM3"
}
]
}
]
},
{
"uniprot_ac": "O15438",
"gene_name": "ABCC3",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "O15438",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O15438"
}
]
}
]
},
{
"uniprot_ac": "O70127",
"gene_name": "Abcb11",
"activity": [
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O70127",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O70127"
}
]
}
]
},
{
"uniprot_ac": "O88563",
"gene_name": "Abcc3",
"activity": [
{
"ec_number": "7.6.2.2",
"activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O88563",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O88563"
}
]
},
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O88563",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O88563"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.",
"evidence": [
{
"id": "O88563",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O88563"
}
]
},
{
"ec_number": "7.6.2.3",
"activity": "",
"evidence": [
{
"id": "O88563",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O88563"
}
]
},
{
"ec_number": "7.6.2.2",
"activity": "",
"evidence": [
{
"id": "O88563",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O88563"
}
]
}
]
},
{
"uniprot_ac": "O94911",
"gene_name": "ABCA8",
"activity": [
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O94911",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O94911"
}
]
}
]
},
{
"uniprot_ac": "O95342",
"gene_name": "ABCB11",
"activity": [
{
"ec_number": "7.6.2.-",
"activity": "",
"evidence": [
{
"id": "O95342",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95342"
}
]
}
]
},
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