{
"uniprot_canonical_ac": "O00469-1",
"uniprot_ac": "O00469",
"uniprot_id": "PLOD2_HUMAN",
"mass": {
"chemical_mass": 84686.0,
"monoisotopic_mass": 84686.0
},
"refseq": {
"ac": "NP_000926",
"name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 2 precursor",
"summary": "The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
"gene_names": [
{
"name": "PLOD2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O00469",
"id": "O00469"
},
{
"name": "BRKS2; LH2; TLH",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926",
"id": "NP_000926"
},
{
"name": "PLOD2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926",
"id": "NP_000926"
}
],
"protein_names": [
{
"name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O00469"
},
{
"name": "1.14.11.4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O00469"
},
{
"name": "LH2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O00469"
},
{
"name": "Lysyl hydroxylase 2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O00469"
},
{
"name": "lysine hydroxylase 2; telopeptide lysyl hydroxylase; lysyl hydroxylase 2; lysyl hydroxlase 2; procollagen-lysine 5-dioxygenase; telopeptidyl lysyl hydroxylase; procollagen lysyl hydroxylase 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926",
"id": "NP_000926"
},
{
"name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 isoform 2 precursor",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926",
"id": "NP_000926"
}
],
"function": [
{
"annotation": "Apelin promotes osteosarcoma metastasis by upregulating PLOD2 expression via the Hippo signaling pathway and hsa_circ_0000004/miR-1303 axis. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
{
"database": "PubMed",
"id": "36632453",
"url": "https://glygen.org/publication/PubMed/36632453"
}
]
},
{
"annotation": "CircRNA PLOD2 promotes tumorigenesis and Warburg effect in colon cancer by the miR-513a-5p/SIX1/LDHA axis.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
{
"database": "PubMed",
"id": "36071678",
"url": "https://glygen.org/publication/PubMed/36071678"
}
]
},
{
"annotation": "Circular RNA circPLOD2 regulates pericyte function by targeting the transcription factor KLF4.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
{
"database": "PubMed",
"id": "37481725",
"url": "https://glygen.org/publication/PubMed/37481725"
}
]
},
{
"annotation": "Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469#function"
},
{
"database": "UniProtKB",
"id": "P24802",
"url": "https://www.uniprot.org/uniprot/P24802#function"
}
]
},
{
"annotation": "Hypoxia-induced PLOD2 promotes clear cell renal cell carcinoma progression via modulating EGFR-dependent AKT pathway activation. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
{
"database": "PubMed",
"id": "38008826",
"url": "https://glygen.org/publication/PubMed/38008826"
}
]
},
{
"annotation": "The PLOD2/succinate axis regulates the epithelial-mesenchymal plasticity and cancer cell stemness.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
},
{
"database": "PubMed",
"id": "37155842",
"url": "https://glygen.org/publication/PubMed/37155842"
}
]
},
{
"annotation": "The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000926",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000926"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0060231",
"recommended_name": {
"id": "DOID:0060231",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060231",
"name": "Bruck syndrome",
"description": "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."
},
"synonyms": [
{
"id": "DOID:0060231",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060231",
"name": "osteogenesis imperfecta with congenital joint contractures",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "Bruck syndrome 1",
"description": "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene."
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "Bruck syndrome 1",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "Bruck syndrome caused by mutation in FKBP10",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "Bruck syndrome type 1",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "FKBP10 Bruck syndrome",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "arthrogryposis-like disorder",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "BRKS1",
"description": ""
},
{
"id": "MONDO:0009806",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009806",
"name": "Kuskokwim disease",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "Bruck syndrome 2",
"description": "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene."
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "Bruck syndrome 2",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "Bruck syndrome caused by mutation in PLOD2",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "Bruck syndrome type 2",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "PLOD2 Bruck syndrome",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "BRKS2",
"description": ""
},
{
"id": "MONDO:0012217",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217",
"name": "osteogenesis imperfecta with congenital Joint contractures",
"description": ""
},
{
"id": "MIM:259450",
"resource": "MIM",
"url": "https://www.omim.org/entry/259450",
"name": "Bruck syndrome 1",
"description": "Bruck syndrome 1"
},
{
"id": "MIM:609220",
"resource": "MIM",
"url": "https://www.omim.org/entry/609220",
"name": "Bruck syndrome 2",
"description": "Bruck syndrome 2"
}
],
"evidence": [
{
"id": "0012217",
"database": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012217"
},
{
"id": "609220",
"database": "MIM",
"url": "https://www.omim.org/entry/609220"
},
{
"id": "5352",
"database": "GlyCosmos",
"url": "https://glycosmos.org/glycogenes/show/5352#disease"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1032220027",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032220027"
},
{
"id": "rs1032220027",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1032220027"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"n-glyco-sequon-gain"
],
"start_pos": 522,
"end_pos": 522,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->STS); n-glyco-sequon-gain (NYN->NYS).",
"chr_id": "3",
"chr_pos": "146076831",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N522",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1559830215",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559830215"
},
{
"id": "rs1559830215",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1559830215"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 698,
"end_pos": 698,
"sequence_org": "S",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCA); o-glyco-site-loss (S->A).",
"chr_id": "3",
"chr_pos": "146070839",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S698",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1404495309",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404495309"
},
{
"id": "rs1404495309",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1404495309"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 209,
"end_pos": 209,
"sequence_org": "N",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->TIT).",
"chr_id": "3",
"chr_pos": "146104332",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N209",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "O00469",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00469"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 211,
"end_pos": 211,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->NIA).",
"chr_id": "3",
"chr_pos": "146104327",
"ref_nt": "T",
"alt_nt": "C",
"minor_allelic_frequency": "",
"site_lbl": "T211",
"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": ""
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
},
{
"evidence": [
{
"id": "O00469",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00469"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 241,
"end_pos": 241,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KNT->NNT).",
"chr_id": "3",
"chr_pos": "146102809",
"ref_nt": "C",
"alt_nt": "A",
"minor_allelic_frequency": "",
"site_lbl": "K241",
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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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:0012244",
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{
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},
{
"id": "MONDO:0012093",
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},
{
"id": "MONDO:0012093",
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"name": "prostate cancer, hereditary, type 3",
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},
{
"id": "MONDO:0012093",
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"url": "https://monarchinitiative.org/disease/MONDO:0012093",
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},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
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},
{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
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"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",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
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},
{
"id": "MONDO:0012758",
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"name": "prostate cancer, hereditary, 13",
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},
{
"id": "MONDO:0012758",
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"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
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},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
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},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
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},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0012758",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
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},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 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": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
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},
"synonyms": [
{
"id": "DOID:10534",
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"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",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
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{
"disease_id": "DOID:11054",
"recommended_name": {
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"name": "urinary bladder cancer",
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},
"synonyms": [
{
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
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},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"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": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"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": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"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": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"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": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "O00469",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00469"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
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},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
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"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0005575",
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"name": "colorectum cancer",
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},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
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"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
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"url": "https://monarchinitiative.org/disease/MONDO:0005575",
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"length": 702,
"header": "tr|A0A9L9PX47-1|PLOD2_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=1 CANONICAL=O00469-1"
},
"locus": {
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"start_pos": 146160989,
"end_pos": 146070720,
"strand": "+",
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{
"database": "Ensembl Transcript",
"id": "ENST00000706635.1",
"url": "https://www.ensembl.org/id/ENST00000706635.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516475.1",
"url": "https://www.ensembl.org/id/ENSP00000516475.1"
}
]
}
},
{
"isoform_ac": "A0A9L9PXC2-1",
"url": "",
"sequence": {
"sequence": "MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP",
"length": 699,
"header": "tr|A0A9L9PXC2-1|PLOD2_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=1 CANONICAL=O00469-1"
},
"locus": {
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"start_pos": 146160989,
"end_pos": 146070720,
"strand": "+",
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{
"database": "Ensembl Transcript",
"id": "ENST00000706626.1",
"url": "https://www.ensembl.org/id/ENST00000706626.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000516472.1",
"url": "https://www.ensembl.org/id/ENSP00000516472.1"
}
]
}
},
{
"isoform_ac": "C9JXZ0-1",
"url": "",
"sequence": {
"sequence": "MTRFGVRLYKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP",
"length": 709,
"header": "tr|C9JXZ0-1|C9JXZ0_HUMAN Computationally mapped isoform of procollagen-lysine 5-dioxygenase OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=2 CANONICAL=O00469-1"
},
"locus": {
"chromosome": "3",
"start_pos": 146163618,
"end_pos": 146070720,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000469350.6",
"url": "https://www.ensembl.org/id/ENST00000469350.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419963.2",
"url": "https://www.ensembl.org/id/ENSP00000419963.2"
}
]
}
},
{
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"length": 703,
"header": "tr|E7ETU9-1|E7ETU9_HUMAN Computationally mapped isoform of procollagen-lysine 5-dioxygenase OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=1 CANONICAL=O00469-1"
},
"locus": {
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"start_pos": 146124173,
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"strand": "+",
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{
"database": "Ensembl Transcript",
"id": "ENST00000494950.5",
"url": "https://www.ensembl.org/id/ENST00000494950.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000420094.1",
"url": "https://www.ensembl.org/id/ENSP00000420094.1"
}
]
}
},
{
"isoform_ac": "F8WEW3-1",
"url": "",
"sequence": {
"sequence": "MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKKEGSVSQVFSTNKRRTRRYLGPWSRRRMERW",
"length": 98,
"header": "tr|F8WEW3-1|PLOD2_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=1 CANONICAL=O00469-1"
},
"locus": {
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"end_pos": 146121217,
"strand": "+",
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{
"database": "Ensembl Transcript",
"id": "ENST00000480704.2",
"url": "https://www.ensembl.org/id/ENST00000480704.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419880.1",
"url": "https://www.ensembl.org/id/ENSP00000419880.1"
}
]
}
},
{
"isoform_ac": "O00469-1",
"url": "",
"sequence": {
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"length": 737,
"header": "sp|O00469-1|PLOD2_HUMAN Isoform 1 of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=2 CANONICAL=O00469-1"
},
"locus": {
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"end_pos": 146070720,
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"url": "https://www.ensembl.org/id/ENST00000703523.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000515354.1",
"url": "https://www.ensembl.org/id/ENSP00000515354.1"
}
]
}
},
{
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"length": 758,
"header": "sp|O00469-2|PLOD2_HUMAN Isoform 2 of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=2 CANONICAL=O00469-1"
},
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{
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"id": "ENST00000703518.1",
"url": "https://www.ensembl.org/id/ENST00000703518.1"
},
{
"database": "Ensembl Peptide",
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"url": "https://www.ensembl.org/id/ENSP00000515350.1"
}
]
}
},
{
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"header": "sp|O00469-3|PLOD2_HUMAN Isoform 3 of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 OS=Homo sapiens OX=9606 GN=PLOD2 PE=1 SV=2 CANONICAL=O00469-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000461497.5",
"url": "https://www.ensembl.org/id/ENST00000461497.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000419354.1",
"url": "https://www.ensembl.org/id/ENSP00000419354.1"
}
]
}
}
],
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{
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"url": ""
},
{
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{
"id": "10.1007/s00018-021-03863-1",
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}
]
},
{
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},
{
"id": "29741879",
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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": "19159218",
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},
{
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"url": "https://glygen.org/publication/PubMed/23090970"
},
{
"id": "GLY_000143",
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{
"id": "24190977",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/24190977"
}
]
},
{
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{
"id": "O00469",
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"url": "https://www.uniprot.org/uniprot/O00469#ptm_processing"
}
]
},
{
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"end_pos": 33,
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"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00469"
},
{
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},
{
"id": "35008409",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35008409"
},
{
"id": "33214551",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/33214551"
},
{
"id": "34725712",
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"url": "https://glygen.org/publication/PubMed/34725712"
},
{
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"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/26853435"
},
{
"id": "34019948",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34019948"
},
{
"id": "33465208",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/33465208"
},
{
"id": "O00469",
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"url": "https://oglcnac.org/atlas/detail/O00469"
}
]
},
{
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"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
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"end_aa": "Asn",
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"journal": "Collagen and related research",
"date": "1981",
"authors": "Turpeenniemi-Hujanen TM, Puistola U, Kivirikko KI",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "6809411",
"url": "https://glygen.org/publication/PubMed/6809411"
}
]
},
{
"title": "The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen.",
"journal": "European journal of biochemistry",
"date": "1978",
"authors": "Bachinger HP, Bruckner P, Timpl R, Engel J",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "710450",
"url": "https://glygen.org/publication/PubMed/710450"
}
]
},
{
"title": "Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.",
"journal": "J. Biol. Chem.",
"date": "1997",
"authors": "Valtavaara M, Papponen H, Pirttila AM, Hiltunen K, Helander H, Myllyla R",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
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},
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9054364",
"url": "https://glygen.org/publication/PubMed/9054364"
}
]
},
{
"title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Wilson R, Lees JF, Bulleid NJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9545296",
"url": "https://glygen.org/publication/PubMed/9545296"
}
]
},
{
"title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.",
"journal": "The Biochemical journal",
"date": "1998",
"authors": "McLaughlin SH, Bulleid NJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9560306",
"url": "https://glygen.org/publication/PubMed/9560306"
}
]
},
{
"title": "Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)",
"journal": "The Journal of biological chemistry",
"date": "1998",
"authors": "Valtavaara M, Szpirer C, Szpirer J, Myllyla R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-1650814",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814"
}
],
"reference": [
{
"type": "PubMed",
"id": "9582318",
"url": "https://glygen.org/publication/PubMed/9582318"
}
]
}
],
"pathway": [
{
"id": "hsa:5352",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5352",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-1650814",
"name": "Collagen biosynthesis and modifying enzymes",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814",
"resource": "Reactome",
"description": "Collagen biosynthesis and modifying enzymes"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "Q811A3-1",
"protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
"gene_name": "Plod2",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MGDRGVRLGLLMPMLALLSWAASLGVAEETPSRIPADKLLVITVATKENDGFHRFMNSAKYFNYTVKVLGQGQEWRGGDGMNSIGGGQKVRLMKEAMEHYAGQDDLVILFTECFDVIFAGGPEELLKKFQKTNHKIVFAADALLWPDKRLADKYPGVHIGKRYLNSGGFIGYAPYISRLVQQWNLQDNDDDQLFYTKVYIDPLKREALNITLDHRCKIFQALNGATDEVVLKFENGKSRVKNTFYETLPVAINGNGPSKILLNYFGNYVPNSWTQENGCALCDFDASDLSTVDVYPKVTLGVFIEQPTPFQPRFLDLLLTLDYPKEALRLFVHNKEVYHEKDIKAFVDKAKHDISSIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGIWNVPYMANVYLIQGKTLRSEMSERNYFVRDKLDPDMSLCRNARDMGVFMYISNRHEFGRLISTANYNTSHLNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSERACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQIDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP",
"length": 737
},
"evidence": [
{
"id": "45921202",
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"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q9R0B9-1",
"protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
"gene_name": "Plod2",
"tax_id": 10090,
"organism": "Mus musculus",
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"sequence": "MGDRGARPGRLMPMLALLSWAAGLGVAEETPGRIPADKLLVITVATKENDGFHRFMNSAKYFNYTVKVLGQGQEWRGGDGMNSIGGGQKVRLLKEAMEHYASQEDLVILFTECFDVVFAGGPEEVLKKFQKTNHKIVFAADGLLWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYISRLVQQWNLQDNDDDQLFYTKVYIDPLKREAFNITLDHKCKIFQALNGATDEVVLKFENGKSRVKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQENGCALCDVDTIDLSTVDVPPKVTLGVFIEQPTPFLPRFLNLLLTLDYPKEALQLFIHNKEVYHEKDIKVFVDKAKHDISSIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKFLIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGIWNVPYMANVYLIQGKTLRSEMNERNYFVRDKLDPDMALCRNARDMGVFMYISNRHEFGRLISTANYNTSHLNNDFWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSERACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQIGLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP",
"length": 737
},
"evidence": [
{
"id": "45921202",
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"database": "MGI"
},
{
"id": "O00469",
"url": "https://omabrowser.org/oma/group/O00469/",
"database": "OMA"
}
],
"common_name": "Mouse"
}
],
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"categories": [
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
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}
],
"pmid": ""
},
{
"name": "L-ascorbic acid binding",
"id": "GO:0031418",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418",
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{
"database": "UniProtKB",
"id": "O00469",
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}
],
"pmid": ""
},
{
"name": "dioxygenase activity",
"id": "GO:0051213",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
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}
],
"pmid": ""
},
{
"name": "iron ion binding",
"id": "GO:0005506",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "procollagen-lysine 5-dioxygenase activity",
"id": "GO:0008475",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008475",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 4,
"go_terms": [
{
"name": "endoplasmic reticulum membrane",
"id": "GO:0005789",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789",
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{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "endoplasmic reticulum",
"id": "GO:0005783",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
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{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "rough endoplasmic reticulum membrane",
"id": "GO:0030867",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030867",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 4,
"go_terms": [
{
"name": "protein modification process",
"id": "GO:0036211",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211",
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{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "response to hypoxia",
"id": "GO:0001666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "hydroxylysine biosynthetic process",
"id": "GO:0046947",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046947",
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{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
},
{
"name": "peptidyl-lysine hydroxylation",
"id": "GO:0017185",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017185",
"evidence": [
{
"database": "UniProtKB",
"id": "O00469",
"url": "https://www.uniprot.org/uniprot/O00469"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 N-glycosylated 1 (human)",
"definition": "A procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (human) that has been N-glycosylated at the residue equivalent to Asn-63 of the amino acid sequence represented by UniProtKB:O00469-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:O00469-1, Asn-63, MOD:00160~GNO:G67324HN. [PRO:DNx, PMID:23345538]",
"evidence": [
{
"id": "PR:000050675",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000050675"
}
]
}
],
"site_annotation": [
{
"start_pos": 209,
"end_pos": 211,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 297,
"end_pos": 299,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 365,
"end_pos": 367,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 522,
"end_pos": 524,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 63,
"end_pos": 65,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 696,
"end_pos": 698,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 725,
"end_pos": 727,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "16569",
"name": "",
"equation": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q811A3-1",
"Q63321-1",
"Q5U367-1",
"O00469-1",
"O60568-1",
"Q02809-1",
"Q9R0B9-1",
"Q9R0E1-1",
"Q9R0E2-1",
"Q9VTH0-1"
],
"evidence": [
{
"id": "16569",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/16569"
}
]
},
{
"id": "R-HSA-1981104",
"name": "Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines",
"equation": "",
"summary": "Lysyl hydroxylase (LH) (E.C. 1.14.11.4) is a dimeric enzyme that catalyzes the formation of (2S,5R)-5-hydroxylysyl residues (5-Hyl) in proteins (reviewed in Myllyharju & Kivirikko 2001) within a peptide linkage at the Y position of the repeating X-Y-Gly sequence motif. The extent of 5-Hyl formation is much more variable than that of hydroxyproline. It varies between collagen types, tissues and by physiological state (Miller 1984). 5-Hyl content also differs between the helical and telopeptide domains. This and the observation that purified lysyl hydroxylase failed to hydroxylate Lys in the telopeptide domains has led to speculation that there are separate enzymes responsible for Lys hydroxylation in the helical and telopeptide domains (Royce & Barnes 1985, Gerriets et al. 1993). The LH2b isoform may be the telopeptide-specific form (Pornprasertsuk et al. 2004).
In human type I collagen, there are 38 residues of Lys in each alpha-1 chain (36 in the helical domain, 1 each in the C- and N-telopeptide domains) and 31 in each alpha-2 chain (30 in the helical domain,1 in the N-telopeptide and none in the C-telopeptide domains) (Yamauchi & Shiiba 2002).
LH requires ferrous iron, oxygen, 2-oxoglutarate, and ascorbate. The hydroxylation reaction occurs during collagen biosynthesis in the ER as a co- and post-translational event, before triple helix formation. Three LH isoforms have been characterized in humans, encoded by the genes PLOD1-3. The isoforms appear to have preferences for certain collagen types, e.g. LH3 preferentially binds collagen types IV, VI, XI and XII (Myllyla et al. 2007). LH3 has galactosyltransferase and glucosyltransferase activities in addition to its lysyl hydroxylase activity (Heikkinen et al. 2000, Wang et al. 2002), a multifunctionality also seen in the single C. elegans orthologue (Wang et al. 2002a, b). Hydroxylysine residues can form stable intermolecular cross-links between collagen molecules in fibrils and also represent sites for glucosyl- and galactosyl- carbohydrate attachment.
In this reaction all collagen subtypes are represented as having a single hydroxylysine.",
"cellular_location": "endoplasmic reticulum membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00469-1",
"Q02809-1"
],
"evidence": [
{
"id": "R-HSA-1981104",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1981104"
}
]
},
{
"id": "R-HSA-8948232",
"name": "Lysyl hydroxylated collagen propeptides dissociate from Lysyl hydroxylases",
"equation": "",
"summary": "Following the formation of 5-hydroxylysine residues by Lysyl hydroxylase, the modified collagen chain dissociates.",
"cellular_location": "endoplasmic reticulum lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O00469-1",
"Q02809-1"
],
"evidence": [
{
"id": "R-HSA-8948232",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948232"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "O00469",
"gene_name": "PLOD2",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
"evidence": [
{
"id": "O00469",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00469"
}
]
},
{
"ec_number": "1.14.11.4",
"activity": "",
"evidence": [
{
"id": "O00469",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00469"
}
]
}
]
},
{
"uniprot_ac": "O60568",
"gene_name": "PLOD3",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
"evidence": [
{
"id": "O60568",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60568"
}
]
},
{
"ec_number": "2.4.1.50",
"activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.",
"evidence": [
{
"id": "O60568",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60568"
}
]
},
{
"ec_number": "2.4.1.66",
"activity": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.",
"evidence": [
{
"id": "O60568",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O60568"
}
]
}
]
},
{
"uniprot_ac": "Q02809",
"gene_name": "PLOD1",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
"evidence": [
{
"id": "Q02809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02809"
}
]
},
{
"ec_number": "1.14.11.4",
"activity": "",
"evidence": [
{
"id": "Q02809",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q02809"
}
]
}
]
},
{
"uniprot_ac": "Q5U367",
"gene_name": "Plod3",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
"evidence": [
{
"id": "Q5U367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5U367"
}
]
},
{
"ec_number": "1.14.11.4",
"activity": "",
"evidence": [
{
"id": "Q5U367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5U367"
}
]
},
{
"ec_number": "2.4.1.50",
"activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.",
"evidence": [
{
"id": "Q5U367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5U367"
}
]
},
{
"ec_number": "2.4.1.66",
"activity": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.",
"evidence": [
{
"id": "Q5U367",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5U367"
}
]
}
]
},
{
"uniprot_ac": "Q63321",
"gene_name": "Plod1",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
"evidence": [
{
"id": "Q63321",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q63321"
}
]
},
{
"ec_number": "1.14.11.4",
"activity": "",
"evidence": [
{
"id": "Q63321",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q63321"
}
]
}
]
},
{
"uniprot_ac": "Q811A3",
"gene_name": "Plod2",
"activity": [
{
"ec_number": "1.14.11.4",
"activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.",
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