{
"uniprot_canonical_ac": "P04439-1",
"uniprot_ac": "P04439",
"uniprot_id": "HLAA_HUMAN",
"mass": {
"chemical_mass": 40841.0,
"monoisotopic_mass": 40841.0
},
"refseq": {
"ac": "NP_001229687",
"name": "HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor",
"summary": "HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
"gene_names": [
{
"name": "HLA-A",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P04439",
"id": "P04439"
},
{
"name": "HLA-A26",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04439",
"id": "P04439"
},
{
"name": "HLA-A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687",
"id": "NP_001229687"
},
{
"name": "HLAA",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687",
"id": "NP_001229687"
},
{
"name": "HLAA",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04439",
"id": "P04439"
},
{
"name": "HLA",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P04439",
"id": "P04439"
}
],
"protein_names": [
{
"name": "HLA class I histocompatibility antigen, A alpha chain",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P04439"
},
{
"name": "HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687",
"id": "NP_001229687"
},
{
"name": "HLA class I histocompatibility antigen, A-1 alpha chain; MHC class I antigen HLA-A heavy chain; leukocyte antigen class I-A",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687",
"id": "NP_001229687"
},
{
"name": "HLA-A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04439"
},
{
"name": "Human leukocyte antigen A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P04439"
}
],
"function": [
{
"annotation": "A web-based genome-wide association study reveals the susceptibility loci of common adverse events following COVID-19 vaccination in the Japanese population. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
{
"database": "PubMed",
"id": "38012279",
"url": "https://glygen.org/publication/PubMed/38012279"
}
]
},
{
"annotation": "Allele A*01:01: Presents a restricted peptide repertoire including viral epitopes derived from IAV NP/nucleoprotein (CTELKLSDY), IAV PB1/polymerase basic protein 1 (VSDGGPNLY), HAdV-11 capsid L3/hexon protein (LTDLGQNLLY), SARS-CoV-2 3a/ORF3a (FTSDYYQLY) as well as tumor peptide antigens including MAGE1 (EADPTGHSY), MAGEA3 (EVDPIGHLY) and WT1 (TSEKRPFMCAY), all having in common a canonical motif with a negatively charged Asp or Glu residue at position 3 and a Tyr anchor residue at the C-terminus (PubMed:1402688, PubMed:7504010, PubMed:17189421, PubMed:20364150, PubMed:25880248, PubMed:30530481, PubMed:19177349, PubMed:24395804, PubMed:26758806, PubMed:32887977). A number of HLA-A*01:01-restricted peptides carry a post-translational modification with oxidation and N-terminal acetylation being the most frequent (PubMed:25880248). Fails to present highly immunogenic peptides from the EBV latent antigens (PubMed:18779413).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "24395804",
"url": "https://glygen.org/publication/PubMed/24395804"
},
{
"database": "PubMed",
"id": "26758806",
"url": "https://glygen.org/publication/PubMed/26758806"
},
{
"database": "PubMed",
"id": "7504010",
"url": "https://glygen.org/publication/PubMed/7504010"
},
{
"database": "PubMed",
"id": "19177349",
"url": "https://glygen.org/publication/PubMed/19177349"
},
{
"database": "PubMed",
"id": "1402688",
"url": "https://glygen.org/publication/PubMed/1402688"
},
{
"database": "PubMed",
"id": "17189421",
"url": "https://glygen.org/publication/PubMed/17189421"
},
{
"database": "PubMed",
"id": "25880248",
"url": "https://glygen.org/publication/PubMed/25880248"
},
{
"database": "PubMed",
"id": "20364150",
"url": "https://glygen.org/publication/PubMed/20364150"
},
{
"database": "PubMed",
"id": "18779413",
"url": "https://glygen.org/publication/PubMed/18779413"
},
{
"database": "PubMed",
"id": "30530481",
"url": "https://glygen.org/publication/PubMed/30530481"
}
]
},
{
"annotation": "Allele A*02:01: A major allele in human populations, presents immunodominant viral epitopes derived from IAV M/matrix protein 1 (GILGFVFTL), HIV-1 env (TLTSCNTSV), HIV-1 gag-pol (ILKEPVHGV), HTLV-1 Tax (LLFGYPVYV), HBV C/core antigen (FLPSDFFPS), HCMV UL83/pp65 (NLVPMVATV) as well as tumor peptide antigens including MAGEA4 (GVYDGREHTV), WT1 (RMFPNAPYL) and CTAG1A/NY-ESO-1 (SLLMWITQC), all having in common hydrophobic amino acids at position 2 and at the C-terminal anchors.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "18275829",
"url": "https://glygen.org/publication/PubMed/18275829"
},
{
"database": "PubMed",
"id": "28250417",
"url": "https://glygen.org/publication/PubMed/28250417"
},
{
"database": "PubMed",
"id": "8805302",
"url": "https://glygen.org/publication/PubMed/8805302"
},
{
"database": "PubMed",
"id": "9177355",
"url": "https://glygen.org/publication/PubMed/9177355"
},
{
"database": "PubMed",
"id": "2784196",
"url": "https://glygen.org/publication/PubMed/2784196"
},
{
"database": "PubMed",
"id": "7694806",
"url": "https://glygen.org/publication/PubMed/7694806"
},
{
"database": "PubMed",
"id": "22245737",
"url": "https://glygen.org/publication/PubMed/22245737"
},
{
"database": "PubMed",
"id": "12796775",
"url": "https://glygen.org/publication/PubMed/12796775"
},
{
"database": "PubMed",
"id": "7935798",
"url": "https://glygen.org/publication/PubMed/7935798"
},
{
"database": "PubMed",
"id": "8630735",
"url": "https://glygen.org/publication/PubMed/8630735"
},
{
"database": "PubMed",
"id": "11502003",
"url": "https://glygen.org/publication/PubMed/11502003"
},
{
"database": "PubMed",
"id": "12138174",
"url": "https://glygen.org/publication/PubMed/12138174"
},
{
"database": "PubMed",
"id": "20619457",
"url": "https://glygen.org/publication/PubMed/20619457"
},
{
"database": "PubMed",
"id": "17079320",
"url": "https://glygen.org/publication/PubMed/17079320"
},
{
"database": "PubMed",
"id": "8906788",
"url": "https://glygen.org/publication/PubMed/8906788"
},
{
"database": "PubMed",
"id": "19542454",
"url": "https://glygen.org/publication/PubMed/19542454"
},
{
"database": "PubMed",
"id": "26929325",
"url": "https://glygen.org/publication/PubMed/26929325"
}
]
},
{
"annotation": "Allele A*03:01: Presents viral epitopes derived from IAV NP (ILRGSVAHK), HIV-1 nef (QVPLRPMTYK), HIV-1 gag-pol (AIFQSSMTK), SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) as well as tumor peptide antigens including PMEL (LIYRRRLMK), NODAL (HAYIQSLLK), TRP-2 (RMYNMVPFF), all having in common hydrophobic amino acids at position 2 and Lys or Arg anchor residues at the C-terminus (PubMed:7504010, PubMed:7679507, PubMed:9862734, PubMed:19543285, PubMed:21943705, PubMed:2456340, PubMed:32887977). May also display spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "21943705",
"url": "https://glygen.org/publication/PubMed/21943705"
},
{
"database": "PubMed",
"id": "7679507",
"url": "https://glygen.org/publication/PubMed/7679507"
},
{
"database": "PubMed",
"id": "7504010",
"url": "https://glygen.org/publication/PubMed/7504010"
},
{
"database": "PubMed",
"id": "27049119",
"url": "https://glygen.org/publication/PubMed/27049119"
},
{
"database": "PubMed",
"id": "19543285",
"url": "https://glygen.org/publication/PubMed/19543285"
},
{
"database": "PubMed",
"id": "2456340",
"url": "https://glygen.org/publication/PubMed/2456340"
},
{
"database": "PubMed",
"id": "9862734",
"url": "https://glygen.org/publication/PubMed/9862734"
}
]
},
{
"annotation": "Allele A*11:01: Presents several immunodominant epitopes derived from HIV-1 gag-pol and HHV-4 EBNA4, containing the peptide motif with Val, Ile, Thr, Leu, Tyr or Phe at position 2 and Lys anchor residue at the C-terminus. Important in the control of HIV-1, EBV and HBV infections (PubMed:10449296). Presents an immunodominant epitope derived from SARS-CoV-2 N/nucleoprotein (KTFPPTEPK) (PubMed:32887977).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "32887977",
"url": "https://glygen.org/publication/PubMed/32887977"
},
{
"database": "PubMed",
"id": "10449296",
"url": "https://glygen.org/publication/PubMed/10449296"
}
]
},
{
"annotation": "Allele A*23:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "17182537",
"url": "https://glygen.org/publication/PubMed/17182537"
}
]
},
{
"annotation": "Allele A*24:02: Presents viral epitopes derived from HIV-1 nef (RYPLTFGWCF), EBV lytic- and latent-cycle antigens BRLF1 (TYPVLEEMF), BMLF1 (DYNFVKQLF) and LMP2 (IYVLVMLVL), SARS-CoV nucleocapsid/N (QFKDNVILL), as well as tumor peptide antigens including PRAME (LYVDSLFFL), all sharing a common signature motif, namely an aromatic residue Tyr or Phe at position 2 and a nonhydrophobic anchor residue Phe, Leu or Iso at the C-terminus (PubMed:9047241, PubMed:12393434, PubMed:24192765, PubMed:20844028). Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response (PubMed:17182537, PubMed:18502829).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "18502829",
"url": "https://glygen.org/publication/PubMed/18502829"
},
{
"database": "PubMed",
"id": "17182537",
"url": "https://glygen.org/publication/PubMed/17182537"
},
{
"database": "PubMed",
"id": "9047241",
"url": "https://glygen.org/publication/PubMed/9047241"
},
{
"database": "PubMed",
"id": "12393434",
"url": "https://glygen.org/publication/PubMed/12393434"
},
{
"database": "PubMed",
"id": "20844028",
"url": "https://glygen.org/publication/PubMed/20844028"
},
{
"database": "PubMed",
"id": "24192765",
"url": "https://glygen.org/publication/PubMed/24192765"
}
]
},
{
"annotation": "Allele A*26:01: Presents several epitopes derived from HIV-1 gag-pol (EVIPMFSAL, ETKLGKAGY) and env (LVSDGGPNLY), carrying as anchor residues preferentially Glu at position 1, Val or Thr at position 2 and Tyr at the C-terminus.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "15893615",
"url": "https://glygen.org/publication/PubMed/15893615"
}
]
},
{
"annotation": "Allele A*29:02: Presents peptides having a common motif, namely a Glu residue at position 2 and Tyr or Leu anchor residues at the C-terminus.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "8622959",
"url": "https://glygen.org/publication/PubMed/8622959"
}
]
},
{
"annotation": "Allele A*32:01: Interacts with natural killer (NK) cell receptor KIR3DL1 and may contribute to functional maturation of NK cells and self-nonself discrimination during innate immune response.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "17182537",
"url": "https://glygen.org/publication/PubMed/17182537"
}
]
},
{
"annotation": "Allele A*68:01: Presents viral epitopes derived from IAV NP (KTGGPIYKR) and HIV-1 tat (ITKGLGISYGR), having a common signature motif namely, Val or Thr at position 2 and positively charged residues Arg or Lys at the C-terminal anchor.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "2784196",
"url": "https://glygen.org/publication/PubMed/2784196"
},
{
"database": "PubMed",
"id": "1448154",
"url": "https://glygen.org/publication/PubMed/1448154"
},
{
"database": "PubMed",
"id": "1448153",
"url": "https://glygen.org/publication/PubMed/1448153"
}
]
},
{
"annotation": "Allele A*74:01: Presents immunodominant HIV-1 epitopes derived from gag-pol (GQMVHQAISPR, QIYPGIKVR) and rev (RQIHSISER), carrying an aliphatic residue at position 2 and Arg anchor residue at the C-terminus. May contribute to viral load control in chronic HIV-1 infection.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "21498667",
"url": "https://glygen.org/publication/PubMed/21498667"
}
]
},
{
"annotation": "Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:2456340, PubMed:2784196, PubMed:1402688, PubMed:7504010, PubMed:9862734, PubMed:10449296, PubMed:12138174, PubMed:12393434, PubMed:15893615, PubMed:17189421, PubMed:19543285, PubMed:21498667, PubMed:24192765, PubMed:7694806, PubMed:24395804, PubMed:28250417). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:25880248, PubMed:7506728, PubMed:7679507). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:12796775, PubMed:18275829, PubMed:19542454, PubMed:28250417). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome or via endopeptidase IDE/insulin-degrading enzyme (PubMed:17189421, PubMed:20364150, PubMed:17079320, PubMed:26929325, PubMed:27049119). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:7504010, PubMed:9862734).",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439#function"
},
{
"database": "PubMed",
"id": "18275829",
"url": "https://glygen.org/publication/PubMed/18275829"
},
{
"database": "PubMed",
"id": "7506728",
"url": "https://glygen.org/publication/PubMed/7506728"
},
{
"database": "PubMed",
"id": "28250417",
"url": "https://glygen.org/publication/PubMed/28250417"
},
{
"database": "PubMed",
"id": "2784196",
"url": "https://glygen.org/publication/PubMed/2784196"
},
{
"database": "PubMed",
"id": "7694806",
"url": "https://glygen.org/publication/PubMed/7694806"
},
{
"database": "PubMed",
"id": "7679507",
"url": "https://glygen.org/publication/PubMed/7679507"
},
{
"database": "PubMed",
"id": "12796775",
"url": "https://glygen.org/publication/PubMed/12796775"
},
{
"database": "PubMed",
"id": "24395804",
"url": "https://glygen.org/publication/PubMed/24395804"
},
{
"database": "PubMed",
"id": "7504010",
"url": "https://glygen.org/publication/PubMed/7504010"
},
{
"database": "PubMed",
"id": "1402688",
"url": "https://glygen.org/publication/PubMed/1402688"
},
{
"database": "PubMed",
"id": "12138174",
"url": "https://glygen.org/publication/PubMed/12138174"
},
{
"database": "PubMed",
"id": "17189421",
"url": "https://glygen.org/publication/PubMed/17189421"
},
{
"database": "PubMed",
"id": "27049119",
"url": "https://glygen.org/publication/PubMed/27049119"
},
{
"database": "PubMed",
"id": "19543285",
"url": "https://glygen.org/publication/PubMed/19543285"
},
{
"database": "PubMed",
"id": "12393434",
"url": "https://glygen.org/publication/PubMed/12393434"
},
{
"database": "PubMed",
"id": "2456340",
"url": "https://glygen.org/publication/PubMed/2456340"
},
{
"database": "PubMed",
"id": "17079320",
"url": "https://glygen.org/publication/PubMed/17079320"
},
{
"database": "PubMed",
"id": "25880248",
"url": "https://glygen.org/publication/PubMed/25880248"
},
{
"database": "PubMed",
"id": "9862734",
"url": "https://glygen.org/publication/PubMed/9862734"
},
{
"database": "PubMed",
"id": "20364150",
"url": "https://glygen.org/publication/PubMed/20364150"
},
{
"database": "PubMed",
"id": "21498667",
"url": "https://glygen.org/publication/PubMed/21498667"
},
{
"database": "PubMed",
"id": "19542454",
"url": "https://glygen.org/publication/PubMed/19542454"
},
{
"database": "PubMed",
"id": "10449296",
"url": "https://glygen.org/publication/PubMed/10449296"
},
{
"database": "PubMed",
"id": "24192765",
"url": "https://glygen.org/publication/PubMed/24192765"
},
{
"database": "PubMed",
"id": "26929325",
"url": "https://glygen.org/publication/PubMed/26929325"
},
{
"database": "PubMed",
"id": "15893615",
"url": "https://glygen.org/publication/PubMed/15893615"
}
]
},
{
"annotation": "Association of HLA-A*11:01, -A*24:02, and -B*18:01 with Prostate Cancer Risk: A Case-Control Study. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
{
"database": "PubMed",
"id": "37895076",
"url": "https://glygen.org/publication/PubMed/37895076"
}
]
},
{
"annotation": "Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
{
"database": "PubMed",
"id": "37834180",
"url": "https://glygen.org/publication/PubMed/37834180"
}
]
},
{
"annotation": "HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
}
]
},
{
"annotation": "HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
{
"database": "PubMed",
"id": "37485595",
"url": "https://glygen.org/publication/PubMed/37485595"
}
]
},
{
"annotation": "Human Leukocyte Antigen Polymorphism HLA-A*24:02 is Associated with Acute Liver Disease in HBV-Infected Han Chinese Adults.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001229687",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229687"
},
{
"database": "PubMed",
"id": "37417317",
"url": "https://glygen.org/publication/PubMed/37417317"
}
]
}
],
"disease": [
{
"disease_id": "DOID:9744",
"recommended_name": {
"id": "DOID:9744",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9744",
"name": "type 1 diabetes mellitus",
"description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production."
},
"synonyms": [
{
"id": "DOID:9744",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9744",
"name": "IDDM",
"description": ""
},
{
"id": "DOID:9744",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9744",
"name": "insulin-dependent diabetes mellitus",
"description": ""
},
{
"id": "DOID:9744",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9744",
"name": "type I diabetes mellitus",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "type 1 diabetes mellitus",
"description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas."
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "IDDM",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "diabetes mellitis type 1",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "diabetes mellitis type I",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "immune mediated diabetes",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "insulin dependent diabetes",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "insulin-dependent diabetes mellitus",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "juvenile diabetes",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "type 1 diabetes",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "type I diabetes",
"description": ""
},
{
"id": "MONDO:0005147",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005147",
"name": "type I diabetes mellitus",
"description": ""
},
{
"id": "MIM:222100",
"resource": "MIM",
"url": "https://www.omim.org/entry/222100",
"name": "Type 1 diabetes mellitus",
"description": "Type 1 diabetes mellitus"
}
],
"evidence": [
{
"id": "222100",
"database": "MIM",
"url": "https://www.omim.org/entry/222100"
}
]
},
{
"disease_id": "MONDO:0021571",
"recommended_name": {
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "multiple sclerosis, susceptibility to 1",
"description": ""
},
"synonyms": [
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "MS1",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "multiple sclerosis, disease progression, modifier of",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "multiple sclerosis, susceptibility to, 1",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "MS",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "disseminated sclerosis",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "multiple sclerosis, susceptibility to",
"description": ""
},
{
"id": "MONDO:0021571",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0021571",
"name": "susceptibility to multiple sclerosis",
"description": ""
},
{
"id": "MIM:126200",
"resource": "MIM",
"url": "https://www.omim.org/entry/126200",
"name": "Multiple sclerosis",
"description": "Multiple sclerosis"
}
],
"evidence": [
{
"id": "126200",
"database": "MIM",
"url": "https://www.omim.org/entry/126200"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs199474468",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474468"
},
{
"id": "rs199474468",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474468"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 112,
"end_pos": 112,
"sequence_org": "S",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQI); o-glyco-site-loss (S->I).",
"chr_id": "6",
"chr_pos": "29943018",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S112",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs199474468",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474468"
},
{
"id": "rs199474468",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474468"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 112,
"end_pos": 112,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQN); o-glyco-site-loss (S->N).",
"chr_id": "6",
"chr_pos": "29943018",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S112",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs199474469",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474469"
},
{
"id": "rs199474469",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs199474469"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 112,
"end_pos": 112,
"sequence_org": "S",
"sequence_mut": "R",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->NQR); o-glyco-site-loss (S->R).",
"chr_id": "6",
"chr_pos": "29943019",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S112",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs199474467",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474467"
},
{
"id": "rs199474467",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs199474467"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 110,
"end_pos": 110,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->KQS).",
"chr_id": "6",
"chr_pos": "29943013",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N110",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs199474466",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474466"
},
{
"id": "rs199474466",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs199474466"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 110,
"end_pos": 110,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS).",
"chr_id": "6",
"chr_pos": "29943012",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N110",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs41541015",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs41541015"
},
{
"id": "rs41541015",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs41541015"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 185,
"end_pos": 185,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).",
"chr_id": "6",
"chr_pos": "29943477",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D185",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs199474576",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474576"
},
{
"id": "rs199474576",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs199474576"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 200,
"end_pos": 200,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KET->NET).",
"chr_id": "6",
"chr_pos": "29943524",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "K200",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs766935810",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766935810"
},
{
"id": "rs766935810",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766935810"
},
{
"id": "rs766935810",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs766935810"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 20,
"end_pos": 20,
"sequence_org": "T",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TQT->NQT).",
"chr_id": "6",
"chr_pos": "29942612",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T20",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "P04439",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04439"
}
],
"glycoeffect": [],
"start_pos": 243,
"end_pos": 243,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "W",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).",
"chr_id": "6",
"chr_pos": "29944229",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "R243",
"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": ""
}
]
},
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
},
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
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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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{
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{
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{
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{
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{
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},
{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
"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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{
"id": "MONDO:0008903",
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{
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{
"id": "MONDO:0008903",
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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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"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
},
{
"disease_id": "DOID:2531",
"recommended_name": {
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematologic cancer",
"description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
},
"synonyms": [
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic malignancy",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematologic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "Hematological tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "blood cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic and lymphoid system tumor",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic cancer",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic neoplasm",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "hematopoietic tumors",
"description": ""
},
{
"id": "DOID:2531",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2531",
"name": "malignant hematopoietic neoplasm",
"description": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "rs199474377",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474377"
},
{
"id": "rs199474377",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199474377"
},
{
"id": "rs199474377",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs199474377"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 53,
"end_pos": 53,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).",
"chr_id": "6",
"chr_pos": "29942840",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D53",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 110,
"end_pos": 110,
"sequence_org": "N",
"sequence_mut": "Q",
"comment": "Impairs the recruitment of HLA-A*02 in the peptide-loading complex.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439"
},
{
"database": "PubMed",
"id": "21263072",
"url": "https://glygen.org/publication/PubMed/21263072"
}
]
},
{
"start_pos": 156,
"end_pos": 156,
"sequence_org": "S",
"sequence_mut": "C",
"comment": "Impairs the maturation of a peptide-receptive HLA-A*02-B2M complex.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439"
},
{
"database": "PubMed",
"id": "8805302",
"url": "https://glygen.org/publication/PubMed/8805302"
}
]
},
{
"start_pos": 158,
"end_pos": 158,
"sequence_org": "T",
"sequence_mut": "K",
"comment": "Impairs binding to TAP1-TAP2 transporter, resulting in impaired presentation of intracellular peptides.",
"evidence": [
{
"database": "UniProtKB",
"id": "P04439",
"url": "https://www.uniprot.org/uniprot/P04439"
},
{
"database": "PubMed",
"id": "8805302",
"url": "https://glygen.org/publication/PubMed/8805302"
},
{
"database": "PubMed",
"id": "8630735",
"url": "https://glygen.org/publication/PubMed/8630735"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "99.59",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "99.52",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "99.71",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "99.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "99.42",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "99.48",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "99.89",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "99.26",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "99.49",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "99.94",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "98.79",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "99.2",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "99.52",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000206503",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000206503"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
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}
],
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{
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},
"synonyms": [
{
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"id": "MONDO:0001056",
"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",
"description": ""
},
{
"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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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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},
{
"id": "MONDO:0001056",
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"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
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]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
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"database": "BioXpress",
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},
{
"id": "DOID:11054",
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"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant neoplasm of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumor",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
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},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"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": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"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": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P04439",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04439"
}
],
"disease": [
{
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"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
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},
{
"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",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of oesophagus",
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},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
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"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "Ca lower third oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
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"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
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},
{
"id": "MONDO:0007576",
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"name": "malignant tumour of proximal third of oesophagus",
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},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
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"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
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{
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],
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{
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"resource": "Disease Ontology",
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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:0005575",
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"name": "colon cancer, advanced, somatic",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer with chromosomal instability, somatic",
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
"id": "MONDO:0005575",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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{
"database": "Ensembl Peptide",
"id": "ENSP00000373114.3",
"url": "https://www.ensembl.org/id/ENSP00000373114.3"
}
]
}
},
{
"isoform_ac": "A0A140T913-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSGGEGVKDRKGGSYSQAASSDSAQGSDVSLTACKV",
"length": 371,
"header": "tr|A0A140T913-1|A0A140T913_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_DBB_CTG1",
"start_pos": 1201020,
"end_pos": 1198107,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000438861.6",
"url": "https://www.ensembl.org/id/ENST00000438861.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000388526.2",
"url": "https://www.ensembl.org/id/ENSP00000388526.2"
}
]
}
},
{
"isoform_ac": "A0A140T933-1",
"url": "",
"sequence": {
"sequence": "XAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWV",
"length": 299,
"header": "tr|A0A140T933-1|A0A140T933_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MCF_CTG1",
"start_pos": 1289549,
"end_pos": 1286636,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000413609.5",
"url": "https://www.ensembl.org/id/ENST00000413609.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000390225.1",
"url": "https://www.ensembl.org/id/ENSP00000390225.1"
}
]
}
},
{
"isoform_ac": "A0A140T941-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFTTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDLQTRNVKAQSQTDRANLGTLRGYYNQSEAGSHTIQMMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWV",
"length": 299,
"header": "tr|A0A140T941-1|A0A140T941_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MANN_CTG1",
"start_pos": 1200010,
"end_pos": 1197096,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000450342.5",
"url": "https://www.ensembl.org/id/ENST00000450342.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000391738.1",
"url": "https://www.ensembl.org/id/ENSP00000391738.1"
}
]
}
},
{
"isoform_ac": "A0A140T955-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWV",
"length": 299,
"header": "tr|A0A140T955-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_DBB_CTG1",
"start_pos": 1201020,
"end_pos": 1198107,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000453975.5",
"url": "https://www.ensembl.org/id/ENST00000453975.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000392547.1",
"url": "https://www.ensembl.org/id/ENSP00000392547.1"
}
]
}
},
{
"isoform_ac": "A0A140T975-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAHSQTDRESLRIALRYYNQSEAGSHTIQMMYGCDVGPDGRLLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWV",
"length": 299,
"header": "tr|A0A140T975-1|A0A140T975_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_SSTO_CTG1",
"start_pos": 1243282,
"end_pos": 1240368,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000414592.5",
"url": "https://www.ensembl.org/id/ENST00000414592.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000394582.1",
"url": "https://www.ensembl.org/id/ENSP00000394582.1"
}
]
}
},
{
"isoform_ac": "A0A140T9I0-1",
"url": "",
"sequence": {
"sequence": "XAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSDRKGGSYSQAASSDSAQGSDVSLTACKV",
"length": 365,
"header": "tr|A0A140T9I0-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MCF_CTG1",
"start_pos": 1289549,
"end_pos": 1286636,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000453057.5",
"url": "https://www.ensembl.org/id/ENST00000453057.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000403922.1",
"url": "https://www.ensembl.org/id/ENSP00000403922.1"
}
]
}
},
{
"isoform_ac": "A0A140T9X5-1",
"url": "",
"sequence": {
"sequence": "XAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSGGEGVKDRKGGSYSQAASSDSAQGSDVSLTACKV",
"length": 371,
"header": "tr|A0A140T9X5-1|A0A140T9X5_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MCF_CTG1",
"start_pos": 1289549,
"end_pos": 1286636,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000455882.5",
"url": "https://www.ensembl.org/id/ENST00000455882.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000416233.1",
"url": "https://www.ensembl.org/id/ENSP00000416233.1"
}
]
}
},
{
"isoform_ac": "A0A140T9Z6-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFTTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDLQTRNVKAQSQTDRANLGTLRGYYNQSEAGSHTIQMMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVFAGAVVAAVRWRRKSSGGVKG",
"length": 342,
"header": "tr|A0A140T9Z6-1|A0A140T9Z6_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MANN_CTG1",
"start_pos": 1199190,
"end_pos": 1197096,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000470780.5",
"url": "https://www.ensembl.org/id/ENST00000470780.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000432736.1",
"url": "https://www.ensembl.org/id/ENSP00000432736.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PPF8-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFYTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDRNTRNVKAHSQTDRANLGTLRGYYNQSEDGSHTIQRMYGCDVGPDGRFLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWETAHEAEQWRAYLEGRCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVIAGAVVAAVMWRRKSSDR",
"length": 339,
"header": "tr|A0A1W2PPF8-1|A0A1W2PPF8_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_QBL_CTG1",
"start_pos": 1200037,
"end_pos": 1197513,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638354.1",
"url": "https://www.ensembl.org/id/ENST00000638354.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000491510.1",
"url": "https://www.ensembl.org/id/ENSP00000491510.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PPQ2-1",
"url": "",
"sequence": {
"sequence": "MVLMAPRTLLLLLSGALALTQTWARSHSMRYFSTAVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSDR",
"length": 339,
"header": "tr|A0A1W2PPQ2-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_DBB_CTG1",
"start_pos": 1200631,
"end_pos": 1144960,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638608.1",
"url": "https://www.ensembl.org/id/ENST00000638608.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000491527.1",
"url": "https://www.ensembl.org/id/ENSP00000491527.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PQD0-1",
"url": "",
"sequence": {
"sequence": "MVLMAPRTLLLLLSGALALTQTWARSHSMRYFSTAVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIMGIIAGLVLLGAVVTGAVVTAVMWRKKSSDR",
"length": 339,
"header": "tr|A0A1W2PQD0-1|A0A1W2PQD0_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_COX_CTG1",
"start_pos": 1488534,
"end_pos": 1369165,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638213.1",
"url": "https://www.ensembl.org/id/ENST00000638213.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000491670.1",
"url": "https://www.ensembl.org/id/ENSP00000491670.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PQS8-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFTTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDLQTRNVKAQSQTDRANLGTLRGYYNQSEAGSHTIQMMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWDRKGGSYSQAASSDSAQGSDMSLTACK",
"length": 325,
"header": "tr|A0A1W2PQS8-1|A0A1W2PQS8_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MANN_CTG1",
"start_pos": 1199838,
"end_pos": 1197096,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638576.1",
"url": "https://www.ensembl.org/id/ENST00000638576.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000491864.1",
"url": "https://www.ensembl.org/id/ENSP00000491864.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PR61-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFYTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDRNTRNVKAHSQTDRANLGTLRGYYNQSEDGSHTIQRMYGCDVGPDGRFLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWETAHEAEQWRAYLEGRCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWDRKGGSYSQAASSDSAQGSDMSLTACK",
"length": 325,
"header": "tr|A0A1W2PR61-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_QBL_CTG1",
"start_pos": 1200254,
"end_pos": 1197513,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000639891.1",
"url": "https://www.ensembl.org/id/ENST00000639891.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492118.1",
"url": "https://www.ensembl.org/id/ENSP00000492118.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PRT9-1",
"url": "",
"sequence": {
"sequence": "GVMASRTLLLLLLGALALTETWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSGGKGGSYSQAASSDSAQGSDVSLTAC",
"length": 362,
"header": "tr|A0A1W2PRT9-1|A0A1W2PRT9_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_DBB_CTG1",
"start_pos": 1200845,
"end_pos": 1183615,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000640080.1",
"url": "https://www.ensembl.org/id/ENST00000640080.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492489.1",
"url": "https://www.ensembl.org/id/ENSP00000492489.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PS24-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 326,
"header": "tr|A0A1W2PS24-1|A0A1W2PS24_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945452,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638375.2",
"url": "https://www.ensembl.org/id/ENST00000638375.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492789.2",
"url": "https://www.ensembl.org/id/ENSP00000492789.2"
}
]
}
},
{
"isoform_ac": "A0A1W2PS39-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAHSQTDRESLRIALRYYNQSEAGSHTIQMMYGCDVGPDGRLLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIMGIIAGLVLLGAVVTGAVVTAVMWRKKSSDR",
"length": 339,
"header": "tr|A0A1W2PS39-1|A0A1W2PS39_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_SSTO_CTG1",
"start_pos": 1306956,
"end_pos": 1240368,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638335.1",
"url": "https://www.ensembl.org/id/ENST00000638335.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492821.1",
"url": "https://www.ensembl.org/id/ENSP00000492821.1"
}
]
}
},
{
"isoform_ac": "A0A1W2PSE7-1",
"url": "",
"sequence": {
"sequence": "GVMASRTLLLLLLGALALTETWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLAGLVLLGAVVTGAVVTAVMWRKKSSGGKGGSYSQAASSQSAQGSDVSLTACKA",
"length": 367,
"header": "tr|A0A1W2PSE7-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_COX_CTG1",
"start_pos": 1488754,
"end_pos": 1407812,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000638761.1",
"url": "https://www.ensembl.org/id/ENST00000638761.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000492851.1",
"url": "https://www.ensembl.org/id/ENSP00000492851.1"
}
]
}
},
{
"isoform_ac": "A0A9L9PXF6-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWGSGPLTFPSFPRAVFPAHHPHRGHHCWPGSPWSCDHWSCGRCRDVEEEELRWRRGEG",
"length": 355,
"header": "tr|A0A9L9PXF6-1|A0A9L9PXF6_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945059,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000706893.1",
"url": "https://www.ensembl.org/id/ENST00000706893.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516609.1",
"url": "https://www.ensembl.org/id/ENSP00000516609.1"
}
]
}
},
{
"isoform_ac": "A0A9L9PXG1-1",
"url": "",
"sequence": {
"sequence": "MRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 337,
"header": "tr|A0A9L9PXG1-1|A0A9L9PXG1_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945452,
"end_pos": 29942768,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000706900.1",
"url": "https://www.ensembl.org/id/ENST00000706900.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516617.1",
"url": "https://www.ensembl.org/id/ENSP00000516617.1"
}
]
}
},
{
"isoform_ac": "A0A9L9PY26-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKEA",
"length": 366,
"header": "tr|A0A9L9PY26-1|A0A9L9PY26_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29947686,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000706904.1",
"url": "https://www.ensembl.org/id/ENST00000706904.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516615.1",
"url": "https://www.ensembl.org/id/ENSP00000516615.1"
}
]
}
},
{
"isoform_ac": "A0A9L9PYF9-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKGESLEDLMCVGCWAEQWTQLCYGVSLHWMY",
"length": 394,
"header": "tr|A0A9L9PYF9-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945370,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000706894.1",
"url": "https://www.ensembl.org/id/ENST00000706894.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516610.1",
"url": "https://www.ensembl.org/id/ENSP00000516610.1"
}
]
}
},
{
"isoform_ac": "B0UXQ0-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFTTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDLQTRNVKAQSQTDRANLGTLRGYYNQSEAGSHTIQMMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVFAGAVVAAVRWRRKSSDRKGGSYSQAASSDSAQGSDMSLTACKV",
"length": 365,
"header": "tr|B0UXQ0-1|B0UXQ0_HUMAN Computationally mapped isoform of MHC class I antigen OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_MANN_CTG1",
"start_pos": 1200010,
"end_pos": 1197096,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000550728.2",
"url": "https://www.ensembl.org/id/ENST00000550728.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000450169.1",
"url": "https://www.ensembl.org/id/ENSP00000450169.1"
}
]
}
},
{
"isoform_ac": "P04439-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 365,
"header": "sp|P04439-1|HLAA_HUMAN Isoform 1 of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945452,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000706905.1",
"url": "https://www.ensembl.org/id/ENST00000706905.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516616.1",
"url": "https://www.ensembl.org/id/ENSP00000516616.1"
}
]
}
},
{
"isoform_ac": "P04439-2",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHAAEQQRAYLEGRCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSGGEGVKDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 371,
"header": "sp|P04439-2|HLAA_HUMAN Isoform 2 of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {}
},
{
"isoform_ac": "Q53Z42-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDGETRKVKAHSQTHRVDLGTLRGYYNQSEAGSHTVQRMYGCDVGSDWRFLRGYHQYAYDGKDYIALKEDLRSWTAADMAAQTTKHKWEAAHVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSSDRKGGSYSQAASSDSAQGSDVSLTACKV",
"length": 365,
"header": "tr|Q53Z42-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_DBB_CTG1",
"start_pos": 1201020,
"end_pos": 1198107,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000457879.5",
"url": "https://www.ensembl.org/id/ENST00000457879.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000403575.1",
"url": "https://www.ensembl.org/id/ENSP00000403575.1"
}
]
}
},
{
"isoform_ac": "Q5RJ27-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAHSQTDRESLRIALRYYNQSEAGSHTIQMMYGCDVGPDGRLLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAMFAGAVVAAVRWRRKSSDRKGGSYSQAASSDSAQGSDMSLTACKV",
"length": 365,
"header": "tr|Q5RJ27-1|Q5RJ27_HUMAN Computationally mapped isoform of MHC class I antigen OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_SSTO_CTG1",
"start_pos": 1243282,
"end_pos": 1240368,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000454091.5",
"url": "https://www.ensembl.org/id/ENST00000454091.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000410645.1",
"url": "https://www.ensembl.org/id/ENSP00000410645.1"
}
]
}
},
{
"isoform_ac": "Q5SPM2-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLVLLLSGALALTQTWAGSHSMRYFYTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDRNTRNVKAHSQTDRANLGTLRGYYNQSEDGSHTIQRMYGCDVGPDGRFLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWETAHEAEQWRAYLEGRCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVIAGAVVAAVMWRRKSSDRKGGSYSQAASSDSAQGSDMSLTACKV",
"length": 365,
"header": "tr|Q5SPM2-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_QBL_CTG1",
"start_pos": 1200426,
"end_pos": 1197513,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000383605.6",
"url": "https://www.ensembl.org/id/ENST00000383605.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000373100.2",
"url": "https://www.ensembl.org/id/ENSP00000373100.2"
}
]
}
},
{
"isoform_ac": "Q5SRN5-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSGGEGVKDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 371,
"header": "tr|Q5SRN5-1|Q5SRN5_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945452,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000376806.9",
"url": "https://www.ensembl.org/id/ENST00000376806.9"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000366002.5",
"url": "https://www.ensembl.org/id/ENSP00000366002.5"
}
]
}
},
{
"isoform_ac": "Q5SRN7-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWV",
"length": 299,
"header": "tr|Q5SRN7-1|Q5SRN7_HUMAN Computationally mapped isoform of Major histocompatibility complex, class I, A OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=2 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "6",
"start_pos": 29945452,
"end_pos": 29942554,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000376802.2",
"url": "https://www.ensembl.org/id/ENST00000376802.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000365998.2",
"url": "https://www.ensembl.org/id/ENSP00000365998.2"
}
]
}
},
{
"isoform_ac": "Q5SUL5-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENGKETLQRTDPPKTHMTHHPISDHEATLRCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV",
"length": 365,
"header": "tr|Q5SUL5-1|Q5SUL5_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_COX_CTG1",
"start_pos": 1424875,
"end_pos": 1421976,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000443552.5",
"url": "https://www.ensembl.org/id/ENST00000443552.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000404678.1",
"url": "https://www.ensembl.org/id/ENSP00000404678.1"
}
]
}
},
{
"isoform_ac": "Q9GJ45-1",
"url": "",
"sequence": {
"sequence": "MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDQETRNVKAHSQTDRESLRIALRYYNQSEAGSHTIQMMYGCDVGPDGRLLRGYQQDAYDGKDYIALNEDLRSWTAADMAAQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRYTCHVQHEGLPKPLTLRWDRKGGSYSQAASSDSAQGSDMSLTACKV",
"length": 326,
"header": "tr|Q9GJ45-1|HLAA_HUMAN Computationally mapped isoform of HLA class I histocompatibility antigen, A alpha chain OS=Homo sapiens OX=9606 GN=HLA-A PE=1 SV=1 CANONICAL=P04439-1"
},
"locus": {
"chromosome": "HSCHR6_MHC_SSTO_CTG1",
"start_pos": 1243282,
"end_pos": 1240368,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000612644.2",
"url": "https://www.ensembl.org/id/ENST00000612644.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000480039.1",
"url": "https://www.ensembl.org/id/ENSP00000480039.1"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G64527OM",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 110,
"start_aa": "Asn",
"end_pos": 110,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn110",
"evidence": [
{
"id": "1324",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/1324"
},
{
"id": "29741879",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29741879"
}
]
},
{
"glytoucan_ac": "G70101JE",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 110,
"start_aa": "Asn",
"end_pos": 110,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn110",
"evidence": [
{
"id": "1324",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/1324"
},
{
"id": "29741879",
"database": "PubMed",
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