{
"uniprot_canonical_ac": "P07686-1",
"uniprot_ac": "P07686",
"uniprot_id": "HEXB_HUMAN",
"mass": {
"chemical_mass": 63137.0,
"monoisotopic_mass": 63137.0
},
"refseq": {
"ac": "NP_000512",
"name": "beta-hexosaminidase subunit beta isoform 1 preproprotein",
"summary": "Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512"
},
"gene_names": [
{
"name": "HEXB",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P07686",
"id": "P07686"
},
{
"name": "ENC-1AS; HEL-248; HEL-S-111",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512",
"id": "NP_000512"
},
{
"name": "HCC7",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P07686",
"id": "P07686"
},
{
"name": "HEL-248",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P07686",
"id": "P07686"
},
{
"name": "HEL-S-111",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P07686",
"id": "P07686"
},
{
"name": "HEXB",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512",
"id": "NP_000512"
}
],
"protein_names": [
{
"name": "Beta-hexosaminidase subunit beta",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P07686"
},
{
"name": "3.2.1.52",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "Beta-N-acetylhexosaminidase subunit beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "Cervical cancer proto-oncogene 7 protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "HCC-7",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "Hexosaminidase subunit B",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "N-acetyl-beta-glucosaminidase subunit beta",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P07686"
},
{
"name": "beta-hexosaminidase subunit beta isoform 1 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512",
"id": "NP_000512"
},
{
"name": "beta-hexosaminidase subunit beta; HCC-7; hexosaminidase subunit B; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; N-acetyl-beta-glucosaminidase subunit beta; epididymis luminal protein 248; epididymis secretory protein Li 111; hexosaminidase B (beta polypeptide); beta-hexosaminidase beta-subunit; epididymis secretory sperm binding protein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512",
"id": "NP_000512"
}
],
"function": [
{
"annotation": "Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000512",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512"
},
{
"database": "PubMed",
"id": "34554397",
"url": "https://glygen.org/publication/PubMed/34554397"
}
]
},
{
"annotation": "Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. Review article",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000512",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512"
},
{
"database": "PubMed",
"id": "31919734",
"url": "https://glygen.org/publication/PubMed/31919734"
}
]
},
{
"annotation": "Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000512",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512"
}
]
},
{
"annotation": "Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671). During fertilization is responsible, at least in part, for the zona block to polyspermy. Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and inactivates the sperm galactosyltransferase-binding site, accounting for the block in sperm binding to the zona pellucida (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686#function"
},
{
"database": "PubMed",
"id": "9694901",
"url": "https://glygen.org/publication/PubMed/9694901"
},
{
"database": "PubMed",
"id": "8672428",
"url": "https://glygen.org/publication/PubMed/8672428"
},
{
"database": "UniProtKB",
"id": "P20060",
"url": "https://www.uniprot.org/uniprot/P20060#function"
},
{
"database": "PubMed",
"id": "8123671",
"url": "https://glygen.org/publication/PubMed/8123671"
},
{
"database": "PubMed",
"id": "11707436",
"url": "https://glygen.org/publication/PubMed/11707436"
}
]
},
{
"annotation": "Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000512",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000512"
},
{
"database": "PubMed",
"id": "33407268",
"url": "https://glygen.org/publication/PubMed/33407268"
}
]
}
],
"disease": [
{
"disease_id": "DOID:3323",
"recommended_name": {
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff disease",
"description": "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."
},
"synonyms": [
{
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration."
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases A and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile, juvenile, and adult forms",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Beta-hexosaminidase-beta-subunit deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2-gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases a and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, adult type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, juvenile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff-Jatzkewitz-Pilz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "hexosaminidase A and B deficiency disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "total hexosaminidase deficiency",
"description": ""
},
{
"id": "MIM:268800",
"resource": "MIM",
"url": "https://www.omim.org/entry/268800",
"name": "GM2-gangliosidosis 2",
"description": "GM2-gangliosidosis 2"
}
],
"evidence": [
{
"id": "0010006",
"database": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006"
},
{
"id": "268800",
"database": "MIM",
"url": "https://www.omim.org/entry/268800"
},
{
"id": "3074",
"database": "GlyCosmos",
"url": "https://glycosmos.org/glycogenes/show/3074#disease"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1223624284",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223624284"
},
{
"id": "rs1223624284",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1223624284#frequency_tab"
},
{
"id": "rs1223624284",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1223624284"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 142,
"end_pos": 142,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->SIS).",
"chr_id": "5",
"chr_pos": "74689453",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N142",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs772132346",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772132346"
},
{
"id": "rs772132346",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772132346"
},
{
"id": "rs772132346",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs772132346"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 190,
"end_pos": 190,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->SES).",
"chr_id": "5",
"chr_pos": "74697006",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N190",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1749127843",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1749127843"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 191,
"end_pos": 191,
"sequence_org": "E",
"sequence_mut": "null",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->NnullS).",
"chr_id": "5",
"chr_pos": "74697008_74697011",
"ref_nt": "l",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "E191",
"disease": [
{
"disease_id": "DOID:3323",
"recommended_name": {
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff disease",
"description": "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."
},
"synonyms": [
{
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration."
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases A and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile, juvenile, and adult forms",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Beta-hexosaminidase-beta-subunit deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2-gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases a and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, adult type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, juvenile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff-Jatzkewitz-Pilz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "hexosaminidase A and B deficiency disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "total hexosaminidase deficiency",
"description": ""
},
{
"id": "MIM:268800",
"resource": "MIM",
"url": "https://www.omim.org/entry/268800",
"name": "GM2-gangliosidosis 2",
"description": "GM2-gangliosidosis 2"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs763927371",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763927371"
},
{
"id": "rs763927371",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763927371"
},
{
"id": "rs763927371",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs763927371"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 327,
"end_pos": 327,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).",
"chr_id": "5",
"chr_pos": "74721159",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N327",
"disease": [
{
"disease_id": "DOID:3323",
"recommended_name": {
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff disease",
"description": "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."
},
"synonyms": [
{
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration."
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases A and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile, juvenile, and adult forms",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Beta-hexosaminidase-beta-subunit deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2-gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases a and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, adult type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, juvenile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff-Jatzkewitz-Pilz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "hexosaminidase A and B deficiency disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "total hexosaminidase deficiency",
"description": ""
},
{
"id": "MIM:268800",
"resource": "MIM",
"url": "https://www.omim.org/entry/268800",
"name": "GM2-gangliosidosis 2",
"description": "GM2-gangliosidosis 2"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs1196930060",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196930060"
},
{
"id": "rs1196930060",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1196930060"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 329,
"end_pos": 329,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTA).",
"chr_id": "5",
"chr_pos": "74715593",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T329",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1561226697",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1561226697"
},
{
"id": "rs1561226697",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1561226697"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 329,
"end_pos": 329,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTI).",
"chr_id": "5",
"chr_pos": "74715594",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T329",
"disease": [
{
"disease_id": "DOID:3323",
"recommended_name": {
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff disease",
"description": "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."
},
"synonyms": [
{
"id": "DOID:3323",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3323",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration."
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases A and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff Jatzkewitz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile, juvenile, and adult forms",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Beta-hexosaminidase-beta-subunit deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, 0 variant",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2 gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "GM2-gangliosidosis, type 2",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Hexosaminidases a and B deficiency",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, adult type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, infantile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff disease, juvenile type",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "Sandhoff-Jatzkewitz-Pilz disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "hexosaminidase A and B deficiency disease",
"description": ""
},
{
"id": "MONDO:0010006",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010006",
"name": "total hexosaminidase deficiency",
"description": ""
},
{
"id": "MIM:268800",
"resource": "MIM",
"url": "https://www.omim.org/entry/268800",
"name": "GM2-gangliosidosis 2",
"description": "GM2-gangliosidosis 2"
}
]
}
],
"keywords": [
"ebi",
"germline",
"disease"
]
},
{
"evidence": [
{
"id": "rs1395617160",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395617160"
},
{
"id": "rs1395617160",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1395617160"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 78,
"end_pos": 78,
"sequence_org": "Y",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YIS->NIS).",
"chr_id": "5",
"chr_pos": "74685492",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "Y78",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs897304925",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897304925"
},
{
"id": "rs897304925",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs897304925#frequency_tab"
},
{
"id": "rs897304925",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs897304925"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 84,
"end_pos": 84,
"sequence_org": "N",
"sequence_mut": "H",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->HST).",
"chr_id": "5",
"chr_pos": "74685510",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N84",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs200209801",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
},
{
"id": "rs200209801",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200209801"
},
{
"id": "rs200209801",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
},
{
"id": "rs200209801",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs200209801#frequency_tab"
},
{
"id": "rs200209801",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs200209801"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 84,
"end_pos": 84,
"sequence_org": "N",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->IST).",
"chr_id": "5",
"chr_pos": "74685511",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "N84",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs200209801",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
},
{
"id": "rs200209801",
"database": "1000Genomes",
"url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200209801"
},
{
"id": "rs200209801",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
},
{
"id": "rs200209801",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs200209801#frequency_tab"
},
{
"id": "rs200209801",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs200209801"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 84,
"end_pos": 84,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).",
"chr_id": "5",
"chr_pos": "74685511",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "0.0002",
"site_lbl": "N84",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs765020778",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765020778"
},
{
"id": "rs765020778",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765020778"
},
{
"id": "rs765020778",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs765020778"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 86,
"end_pos": 86,
"sequence_org": "T",
"sequence_mut": "M",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).",
"chr_id": "5",
"chr_pos": "74685517",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T86",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 211,
"end_pos": 211,
"sequence_org": "R",
"sequence_mut": "K",
"comment": "Does not affect the native conformation of the isozyme A. Does not affect hydrolysis of GM2 ganglioside by the isozyme A.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "8672428",
"url": "https://glygen.org/publication/PubMed/8672428"
}
]
},
{
"start_pos": 241,
"end_pos": 241,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "2.7-fold reduction in substrate affinity. 39-fold reduction in catalytic efficiency.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "11329289",
"url": "https://glygen.org/publication/PubMed/11329289"
}
]
},
{
"start_pos": 354,
"end_pos": 354,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "No effect on substrate affinity. 1750-fold reduction in catalytic efficiency.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "11329289",
"url": "https://glygen.org/publication/PubMed/11329289"
}
]
},
{
"start_pos": 355,
"end_pos": 355,
"sequence_org": "E",
"sequence_mut": "Q",
"comment": "1.5-fold increase in substrate affinity. 2300-fold reduction in catalytic efficiency. Reduces optimal pH to 3-3.5.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "11329289",
"url": "https://glygen.org/publication/PubMed/11329289"
}
]
},
{
"start_pos": 491,
"end_pos": 491,
"sequence_org": "E",
"sequence_mut": "Q",
"comment": "No effect on substrate affinity and on catalytic efficiency.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "11329289",
"url": "https://glygen.org/publication/PubMed/11329289"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "95.92",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "93.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "94.64",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "95.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "98.53",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "98.73",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "95.08",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "97.62",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "98.24",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "95.1",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "96.18",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "98.08",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "97.84",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000049860",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000049860"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
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{
"disease_id": "DOID:11054",
"recommended_name": {
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},
"synonyms": [
{
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},
{
"id": "DOID:11054",
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},
{
"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
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},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
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},
{
"id": "DOID:11934",
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"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P07686",
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}
],
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{
"disease_id": "DOID:1324",
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"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"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",
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"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": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
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],
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{
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"name": "breast cancer",
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},
"synonyms": [
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"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"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": "P07686",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07686"
}
],
"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",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"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",
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{
"name": "lysosome",
"id": "GO:0005764",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "azurophil granule lumen",
"id": "GO:0035578",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "acrosomal vesicle",
"id": "GO:0001669",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "azurophil granule",
"id": "GO:0042582",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042582",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "lysosomal lumen",
"id": "GO:0043202",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "cortical granule",
"id": "GO:0060473",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060473",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
},
{
"name": "beta-N-acetylhexosaminidase complex",
"id": "GO:1905379",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905379",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 1 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-142 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G02402FF. Example: UniProtKB:P07686-1, Asn-142, MOD:00160~GNO:G02402FF. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053960",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053960"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 2 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-142 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G22768VO. Example: UniProtKB:P07686-1, Asn-142, MOD:00160~GNO:G22768VO. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053961",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053961"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 3 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-142 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G25386IJ. Example: UniProtKB:P07686-1, Asn-142, MOD:00160~GNO:G25386IJ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053962",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053962"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 4 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-142 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-142, MOD:00160~GNO:G51623PN. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053963",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053963"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 5 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G02402FF. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G02402FF. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053964",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053964"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 6 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G10601XM. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G10601XM. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053965",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053965"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 7 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G22768VO. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G22768VO. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053966",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053966"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 8 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G25386IJ. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G25386IJ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053967",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053967"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 9 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G43947VZ. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G43947VZ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053968",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053968"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 10 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-190 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-190, MOD:00160~GNO:G51623PN. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053969",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053969"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 11 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-327 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G02402FF. Example: UniProtKB:P07686-1, Asn-327, MOD:00160~GNO:G02402FF. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053970",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053970"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 12 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-327 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G25386IJ. Example: UniProtKB:P07686-1, Asn-327, MOD:00160~GNO:G25386IJ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053971",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053971"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 13 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-327 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-327, MOD:00160~GNO:G51623PN. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053972",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053972"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 14 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-327 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G82348BZ. Example: UniProtKB:P07686-1, Asn-327, MOD:00160~GNO:G82348BZ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053973",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053973"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 15 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G08011QI. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G08011QI. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053974",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053974"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 16 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G25386IJ. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G25386IJ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053975",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053975"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 17 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G51623PN. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G51623PN. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053976",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053976"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 18 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G82348BZ. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G82348BZ. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053977",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053977"
}
]
},
{
"name": "beta-hexosaminidase subunit beta N-glycosylated 19 (human)",
"definition": "A beta-hexosaminidase subunit beta (human) that has been N-glycosylated at the residue equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P07686-1, in which the glycan structure is represented by GlyTouCan:G84155GY. Example: UniProtKB:P07686-1, Asn-84, MOD:00160~GNO:G84155GY. [PRO:DNx, PMID:11447134]",
"evidence": [
{
"id": "PR:000053978",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000053978"
}
]
}
],
"site_annotation": [
{
"start_pos": 142,
"end_pos": 144,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 190,
"end_pos": 192,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 327,
"end_pos": 329,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 497,
"end_pos": 499,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 84,
"end_pos": 86,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.",
"evidence": [
{
"database": "UniProtKB",
"id": "P07686",
"url": "https://www.uniprot.org/uniprot/P07686"
},
{
"database": "PubMed",
"id": "11447134",
"url": "https://glygen.org/publication/PubMed/11447134"
},
{
"database": "PubMed",
"id": "19159218",
"url": "https://glygen.org/publication/PubMed/19159218"
},
{
"database": "PubMed",
"id": "12754519",
"url": "https://glygen.org/publication/PubMed/12754519"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "47940",
"name": "",
"equation": "a ganglioside GM2 (d18:1(4E)) + H2O = a ganglioside GM3 (d18:1(4E)) + N-acetyl-beta-D-galactosamine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641X3-1",
"Q6AXR4-1",
"P07686-1",
"P06865-1",
"P20060-1",
"P29416-1"
],
"evidence": [
{
"id": "47940",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47940"
}
]
},
{
"id": "47968",
"name": "",
"equation": "a ganglioside GM2 + H2O = a ganglioside GM3 + N-acetyl-beta-D-galactosamine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641X3-1",
"Q6AXR4-1",
"P07686-1",
"P06865-1",
"P20060-1",
"P29416-1"
],
"evidence": [
{
"id": "47968",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47968"
}
]
},
{
"id": "48276",
"name": "",
"equation": "H2O + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide = a beta-D-3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + N-acetyl-beta-D-galactosamine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641X3-1",
"Q6AXR4-1",
"P07686-1",
"P06865-1",
"P20060-1",
"P29416-1"
],
"evidence": [
{
"id": "48276",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/48276"
}
]
},
{
"id": "64372",
"name": "",
"equation": "beta-D-GalNAc-(1->4)-alpha-L-IdoA-(1->3)-beta-D-GalNAc-4-sulfate-(1->4)-alpha-L-IdoA-(1->3)-D-GalNAc-4-sulfate + H2O = alpha-L-IdoA-(1->3)-beta-D-GalNAc-4-sulfate-(1->4)-alpha-L-IdoA-(1->3)-D-GalNAc-4-sulfate + N-acetyl-D-galactosamine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641X3-1",
"Q6AXR4-1",
"P07686-1",
"P06865-1",
"P20060-1",
"P29416-1"
],
"evidence": [
{
"id": "64372",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/64372"
}
]
},
{
"id": "64384",
"name": "",
"equation": "H2O + N-acetyl-beta-D-6-sulfogalactosaminyl-(1->4)-alpha-L-iduronyl-(1->3)-N-acetyl-D-6-sulfogalactosamine = alpha-L-iduronyl-(1->3)-N-acetyl-D-6-sulfogalactosamine + N-acetyl-D-6-sulfogalactosamine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641X3-1",
"Q6AXR4-1",
"P07686-1",
"P06865-1",
"P20060-1",
"P29416-1"
],
"evidence": [
{
"id": "64384",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/64384"
}
]
},
{
"id": "R-HSA-1605595",
"name": "bHEXA hydrolyzes GM2A:GM2 to GM2A:GM3",
"equation": "",
"summary": "Beta-hexosaminidase A complex (bHEXA) cleaves the terminal N-acetyl galactosamine from GM2 ganglioside to form GM3 ganglioside (Lemieux et al. 2006). There are three forms of hexosaminidase complexes: hexosaminidase A, B and S. The A form is a tetramer of the subunits alpha (HEXA, beta A) and beta (HEXB, beta B) dimers. The B form is a tetramer of two beta subunit dimers, and the S form a tetramer of two HEXA dimers (O'Dowd et al. 1988). Only form A is active toward GM2 ganglioside (Conzelmann & Sandhoff 1979). GM2 activator (GM2A, GM2AP) acts as an essential cofactor to the reaction by mobilizing GM2 from intralysosomal vehicle (ILV) membranes and binding to bHEXA (Kytzia & Sandhoff, 1985; Yadao et al., 1997; Ravasi et al., 2002; Wendeler et al., 2006). Defects in the two complex subunits or GM2A cause lysosomal storage diseases marked by the accumulation of GM2 ganglioside in neuronal cells. Defects in the alpha subunits are the cause of GM2-gangliosidosis type 1 (GM2G1) (MIM:272800), also known as Tay-Sachs disease (Nakano et al. 1988). Defects in the beta subunits are the cause of GM2-gangliosidosis type 2 (GM2G2) (MIM:268800), also known as Sandhoff disease (Banerjee et al. 1991). Defects in GM2A function lead to GM2 gangliosidosis AB (MIM:272750), also known as the Tay-Sachs disease AB variant (Schroeder et al., 1991; Wilkening et al., 2000; reviewed by Sandhoff & Sandhoff, 2018).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-1605641",
"R-ALL-1605658",
"R-HSA-1605614"
],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-1605595",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1605595"
}
]
},
{
"id": "R-HSA-1605632",
"name": "bHEXA,bHEXB hydrolyze PSAP(195-273):Gb4Cer:PE",
"equation": "",
"summary": "The globotetraosylceramide Gb4Cer (Gb4) is cleaved by both beta-hexosaminidase complexes bHEXA and bHEXB to form Gb3Cer (Kinoshita et al. 1988; Mark et al. 2003). Gb4Cer is present at elevated levels in nerve cells in Sandhoff disease (Tay-Sachs disease variant O, MIM: 268800), a hexosaminidase beta subunit (HEXB) deficiency, which leads to low levels of both bHEX complexes bHEXA and bHEXB (Sandhoff et al., 1971; reviewed in Sandhoff et al., 2018; Sandhoff & Sandhoff, 2018). There are three forms of hexosaminidase complexes: hexosaminidase A, B and S. The A form is a tetramer of the subunits alpha (HEXA, beta A) and beta (HEXB, beta B) dimers. The B form is a tetramer of two beta subunit dimers, and the S form a tetramer of two HEXA dimers (O'Dowd et al. 1988, Mahuran et al. 1988). Both bHEXA and bHEXB can cleave GalNAc from globosides (glycosphingolipids based on the Gb3Cer structure, with sugars added to the Gal-Gal-Glu side chain).
Researchers observed elevated Gb4Cer in prosaposin deficiency (PSAPD, MIM: 611721) cases, a rare disease with low levels of all saposins. We have curated Saposin B (PSAP(195-273)) as essential cofactor to the reaction (Bradova et al., 1993).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-1605632",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1605632"
}
]
},
{
"id": "R-HSA-1638053",
"name": "HEXA cleaves the terminal GalNAc from keratan sulfate",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX: HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [
"R-ALL-2105012"
],
"output_participant_list": [
"R-ALL-2105010"
],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-1638053",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1638053"
}
]
},
{
"id": "R-HSA-2105001",
"name": "HEXA cleaves the terminal GalNAc from DS",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX: HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-2105001",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2105001"
}
]
},
{
"id": "R-HSA-2162225",
"name": "HEXA cleaves the terminal GalNAc from small HA fragments",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [
"R-ALL-2162223"
],
"output_participant_list": [],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-2162225",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2162225"
}
]
},
{
"id": "R-HSA-3662344",
"name": "Defective HEXB does not cleave the terminal GalNAc from DS",
"equation": "",
"summary": "There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits. Beta-hexosaminidase B (HEXB) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. Defects in the beta subunits are the cause of GM2-gangliosidosis type 2 (GM2G2) (MIM:268800), also known as Sandhoff disease (Banerjee et al. 1991). HEXB mutations can result in either infantile-, juvenile-, adult- or chronic-onset forms of Sandhoff disease, with the infantile form being the most severe. A common HEXB mutation causing the infantile-onset form of Sandhoff disease is a 16kb deletion of the HEXB promoter, exons 1 to 5, and part of intron 5 and accounts for ~27% of Sandhoff alleles examined (not annotated here) (Bikker et al. 1989, Neote et al. 1990). Other, less common mutations causing the infantile form are S62L, R284*, M26Cfs*5 and I322Kfs*5 (Zhang et al. 1995, Zampieri et al. 2009, Drousiotou et al. 2000).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-3662344",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3662344"
}
]
},
{
"id": "R-HSA-6798751",
"name": "Exocytosis of azurophil granule lumen proteins",
"equation": "",
"summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;",
"cellular_location": "extracellular region, azurophil granule lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05655-1",
"P07686-1",
"P12724-1",
"P04066-1",
"Q92820-1",
"Q6XQN6-1",
"Q99536-1",
"Q9BRF8-1",
"Q9UHL4-1",
"P08246-1",
"P34059-1",
"P15586-1",
"P24158-1",
"Q9Y2J8-1",
"P10619-1",
"O00584-1",
"P53396-1",
"P55072-1",
"P06280-1",
"P28482-1",
"Q9NZK5-1",
"P20933-1",
"P05089-1",
"P15289-1",
"P15848-1",
"P16278-1",
"Q9H7Z7-1",
"P53634-1",
"P08311-1",
"Q9BTY2-1",
"P00387-1",
"P30041-1",
"P05164-1",
"Q8NBS9-1",
"P11216-1",
"P10153-1",
"P61626-1",
"P08236-1",
"P42685-1",
"P07478-1",
"O00754-1",
"P20839-1"
],
"evidence": [
{
"id": "R-HSA-6798751",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751"
}
]
},
{
"id": "R-HSA-9035982",
"name": "Defective HEXB does not cleave the terminal GalNAc from HA fragments",
"equation": "",
"summary": "There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits. Beta-hexosaminidase B (HEXB) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. Defects in the beta subunits are the cause of GM2-gangliosidosis type 2 (GM2G2) (MIM:268800), also known as Sandhoff disease (Banerjee et al. 1991). HEXB mutations can result in either infantile-, juvenile-, adult- or chronic-onset forms of Sandhoff disease, with the infantile form being the most severe. A common HEXB mutation causing the infantile-onset form of Sandhoff disease is a 16kb deletion of the HEXB promoter, exons 1 to 5, and part of intron 5 and accounts for ~27% of Sandhoff alleles examined (not annotated here) (Bikker et al. 1989, Neote et al. 1990). Other, less common mutations causing the infantile form are S62L, R284*, M26Cfs*5 and I322Kfs*5 (Zhang et al. 1995, Zampieri et al. 2009, Drousiotou et al. 2000).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9035982",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035982"
}
]
},
{
"id": "R-HSA-9035983",
"name": "Defective HEXB does not cleave the terminal GalNAc from keratan sulfate",
"equation": "",
"summary": "There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits. Beta-hexosaminidase B (HEXB) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. Defects in the beta subunits are the cause of GM2-gangliosidosis type 2 (GM2G2) (MIM:268800), also known as Sandhoff disease (Banerjee et al. 1991). HEXB mutations can result in either infantile-, juvenile-, adult- or chronic-onset forms of Sandhoff disease, with the infantile form being the most severe. A common HEXB mutation causing the infantile-onset form of Sandhoff disease is a 16kb deletion of the HEXB promoter, exons 1 to 5, and part of intron 5 and accounts for ~27% of Sandhoff alleles examined (not annotated here) (Bikker et al. 1989, Neote et al. 1990). Other, less common mutations causing the infantile form are S62L, R284*, M26Cfs*5 and I322Kfs*5 (Zhang et al. 1995, Zampieri et al. 2009, Drousiotou et al. 2000).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9035983",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035983"
}
]
},
{
"id": "R-HSA-9638075",
"name": "HEXB cleaves the terminal GalNAc from DS",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX: HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9638075",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638075"
}
]
},
{
"id": "R-HSA-9638076",
"name": "HEXB cleaves the terminal GalNAc from small HA fragments",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9638076",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638076"
}
]
},
{
"id": "R-HSA-9638078",
"name": "HEXB cleaves the terminal GalNAc from keratan sulfate",
"equation": "",
"summary": "Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX: HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits (O'Dowd et al. 1988). Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9638078",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9638078"
}
]
},
{
"id": "R-HSA-9840833",
"name": "bHEXA,bHEXB hydrolyze GM2A:GA2 to GM2A:LacCer",
"equation": "",
"summary": "Ganglioside GA2 (asialo-GM2, ganglio-N-triaosylceramide), bound to GM2A, gets cleaved by the beta-hexosaminidase complexes A and B. It is present at elevated levels in nerve cells in Sandhoff disease (Tay-Sachs disease variant O, MIM: 268800), a hexosaminidase beta subunit (HEXB) deficiency, which leads to low levels of both bHEX complexes bHEXA and bHEXB (Sandhoff et al., 1971; reviewed in Sandhoff et al., 2018; Sandhoff & Sandhoff, 2018).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9840833",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840833"
}
]
},
{
"id": "R-HSA-9840884",
"name": "bHEXA,bHEXS hydrolyze GM2A:SM2",
"equation": "",
"summary": "The beta-hexosaminidase isoforms A (bHEXA) and S (bHEXS) contain an alpha subunit (HEXA) that cleaves negatively charged substrates. Each of bHEXA and bHEXS hydrolyze the charged sulfated glycosphingolipid SM2 to form SM3. Under lysosomal conditions the reaction takes place only in the presence of both BMP (lysobisphosphatidate) and GM2AP (Hepbildikler et al., 2002).
There are three forms of hexosaminidase complexes: hexosaminidase A, B and S. The A form is a tetramer of the subunits alpha (HEXA, beta A) and beta (HEXB, beta B) dimers. The B form is a tetramer of two beta subunit dimers, and the S form a tetramer of two HEXA dimers.",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1",
"P07686-1"
],
"evidence": [
{
"id": "R-HSA-9840884",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9840884"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-1605641",
"participant_name": "GM3 [lysosomal lumen]",
"crossref": [
{
"id": "60065",
"database": "ChEBI",
"url": ""
},
{
"id": "60065",
"database": "ChEBI",
"url": ""
},
{
"id": "60065",
"database": "ChEBI",
"url": ""
},
{
"id": "60065",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-1605658",
"participant_name": "GalNAc [lysosomal lumen]",
"crossref": [
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
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"database": "GlyTouCan",
"url": ""
},
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"database": "COMPOUND",
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{
"id": "000003861733",
"database": "ZINC",
"url": ""
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"database": "ZINC",
"url": ""
},
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"database": "ZINC",
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{
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},
{
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"url": ""
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{
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{
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"database": "ZINC",
"url": ""
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{
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"database": "ZINC",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
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"database": "COMPOUND",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
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"database": "GlyTouCan",
"url": ""
},
{
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"database": "COMPOUND",
"url": ""
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{
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"database": "ZINC",
"url": ""
},
{
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"database": "ZINC",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
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"database": "COMPOUND",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-2105010",
"participant_name": "Gal-GlcNAc(S)-Gal [lysosomal lumen]",
"crossref": [
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63853",
"database": "ChEBI",
"url": ""
},
{
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"url": ""
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{
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"database": "ZINC",
"url": ""
},
{
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"database": "ZINC",
"url": ""
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{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
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"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
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"database": "ZINC",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
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"database": "KEGG Glycan",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
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"database": "ZINC",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
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"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
}
]
},
{
"participant_id": "R-ALL-2105012",
"participant_name": "GlcNAc-Gal-GlcNAc(S)-Gal [lysosomal lumen]",
"crossref": [
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"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
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"url": ""
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{
"id": "G13033",
"database": "KEGG Glycan",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
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"database": "ZINC",
"url": ""
},
{
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"database": "ZINC",
"url": ""
},
{
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"database": "ChEBI",
"url": ""
},
{
"id": "000096085299",
"database": "ZINC",
"url": ""
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{
"id": "G13033",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "000096085300",
"database": "ZINC",
"url": ""
},
{
"id": "G13033",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63852",
"database": "ChEBI",
"url": ""
},
{
"id": "000096085300",
"database": "ZINC",
"url": ""
},
{
"id": "000096085299",
"database": "ZINC",
"url": ""
},
{
"id": "G13033",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63852",
"database": "ChEBI",
"url": ""
},
{
"id": "000096085300",
"database": "ZINC",
"url": ""
},
{
"id": "000096085299",
"database": "ZINC",
"url": ""
},
{
"id": "G13033",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "000096085300",
"database": "ZINC",
"url": ""
},
{
"id": "000096085299",
"database": "ZINC",
"url": ""
},
{
"id": "63852",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-2162223",
"participant_name": "GlcNAc-GlcA-GlcNAc [lysosomal lumen]",
"crossref": [
{
"id": "63563",
"database": "ChEBI",
"url": ""
},
{
"id": "63563",
"database": "ChEBI",
"url": ""
},
{
"id": "63563",
"database": "ChEBI",
"url": ""
},
{
"id": "63563",
"database": "ChEBI",
"url": ""
},
{
"id": "63563",
"database": "ChEBI",
"url": ""
},
{
"id": "63563",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-HSA-1605614",
"participant_name": "GM2A(32-193) [lysosomal lumen]",
"crossref": [
{
"id": "ENSG00000196743-GM2A",
"database": "HPA",
"url": ""
},
{
"id": "2AG2",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000196743",
"database": "OpenTargets",
"url": ""
},
{
"id": "NP_000396.2",
"database": "RefSeq",
"url": ""
},
{
"id": "16146",
"database": "Orphanet",
"url": ""
},
{
"id": "P17900",
"database": "GeneCards",
"url": ""
},
{
"id": "1TJJ",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000349687",
"database": "Ensembl",
"url": ""
},
{
"id": "2AG4",
"database": "PDB",
"url": ""
},
{
"id": "2AG9",
"database": "PDB",
"url": ""
},
{
"id": "P17900",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "2AF9",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000357164",
"database": "Ensembl",
"url": ""
},
{
"id": "1PU5",
"database": "PDB",
"url": ""
},
{
"id": "1G13",
"database": "PDB",
"url": ""
},
{
"id": "P17900",
"database": "UniProt",
"url": ""
},
{
"id": "HMDBP01719",
"database": "HMDB Protein",
"url": ""
},
{
"id": "ENSG00000196743",
"database": "Ensembl",
"url": ""
},
{
"id": "1PUB",
"database": "PDB",
"url": ""
},
{
"id": "P17900",
"database": "PRO",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "O00584",
"gene_name": "RNASET2",
"activity": [
{
"ec_number": "4.6.1.19",
"activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).",
"evidence": [
{
"id": "O00584",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00584"
}
]
},
{
"ec_number": "4.6.1.19",
"activity": "",
"evidence": [
{
"id": "O00584",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00584"
}
]
}
]
},
{
"uniprot_ac": "O00754",
"gene_name": "MAN2B1",
"activity": [
{
"ec_number": "3.2.1.24",
"activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.",
"evidence": [
{
"id": "O00754",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00754"
}
]
},
{
"ec_number": "3.2.1.24",
"activity": "",
"evidence": [
{
"id": "O00754",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O00754"
}
]
}
]
},
{
"uniprot_ac": "P00387",
"gene_name": "CYB5R3",
"activity": [
{
"ec_number": "1.6.2.2",
"activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).",
"evidence": [
{
"id": "P00387",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00387"
}
]
},
{
"ec_number": "1.6.2.2",
"activity": "",
"evidence": [
{
"id": "P00387",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00387"
}
]
}
]
},
{
"uniprot_ac": "P04066",
"gene_name": "FUCA1",
"activity": [
{
"ec_number": "3.2.1.51",
"activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.",
"evidence": [
{
"id": "P04066",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P04066"
}
]
},
{
"ec_number": "3.2.1.51",
"activity": "",
"evidence": [
{
"id": "P04066",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P04066"
}
]
}
]
},
{
"uniprot_ac": "P05089",
"gene_name": "ARG1",
"activity": [
{
"ec_number": "3.5.3.1",
"activity": "H2O + L-arginine = L-ornithine + urea.",
"evidence": [
{
"id": "P05089",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05089"
}
]
},
{
"ec_number": "3.5.3.1",
"activity": "",
"evidence": [
{
"id": "P05089",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05089"
}
]
}
]
},
{
"uniprot_ac": "P05164",
"gene_name": "MPO",
"activity": [
{
"ec_number": "1.11.2.2",
"activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.",
"evidence": [
{
"id": "P05164",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05164"
}
]
},
{
"ec_number": "1.11.2.2",
"activity": "",
"evidence": [
{
"id": "P05164",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P05164"
}
]
}
]
},
{
"uniprot_ac": "P06280",
"gene_name": "GLA",
"activity": [
{
"ec_number": "3.2.1.-",
"activity": "",
"evidence": [
{
"id": "P06280",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06280"
}
]
},
{
"ec_number": "3.2.1.22",
"activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.",
"evidence": [
{
"id": "P06280",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06280"
}
]
},
{
"ec_number": "3.2.1.22",
"activity": "",
"evidence": [
{
"id": "P06280",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06280"
}
]
}
]
},
{
"uniprot_ac": "P06865",
"gene_name": "HEXA",
"activity": [
{
"ec_number": "3.2.1.52",
"activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.",
"evidence": [
{
"id": "P06865",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06865"
}
]
},
{
"ec_number": "3.2.1.52",
"activity": "",
"evidence": [
{
"id": "P06865",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06865"
}
]
}
]
},
{
"uniprot_ac": "P07478",
"gene_name": "PRSS2",
"activity": [
{
"ec_number": "3.4.21.4",
"activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.",
"evidence": [
{
"id": "P07478",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07478"
}
]
},
{
"ec_number": "3.4.21.4",
"activity": "",
"evidence": [
{
"id": "P07478",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07478"
}
]
}
]
},
{
"uniprot_ac": "P07686",
"gene_name": "HEXB",
"activity": [
{
"ec_number": "3.2.1.52",
"activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.",
"evidence": [
{
"id": "P07686",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07686"
}
]
},
{
"ec_number": "3.2.1.52",
"activity": "",
"evidence": [
{
"id": "P07686",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P07686"
}
]
}
]
},
{
"uniprot_ac": "P08236",
"gene_name": "GUSB",
"activity": [
{
"ec_number": "3.2.1.31",
"activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.",
"evidence": [
{
"id": "P08236",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08236"
}
]
},
{
"ec_number": "3.2.1.31",
"activity": "",
"evidence": [
{
"id": "P08236",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08236"
}
]
}
]
},
{
"uniprot_ac": "P08246",
"gene_name": "ELANE",
"activity": [
{
"ec_number": "3.4.21.37",
"activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.",
"evidence": [
{
"id": "P08246",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08246"
}
]
},
{
"ec_number": "3.4.21.37",
"activity": "",
"evidence": [
{
"id": "P08246",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08246"
}
]
}
]
},
{
"uniprot_ac": "P08311",
"gene_name": "CTSG",
"activity": [
{
"ec_number": "3.4.21.20",
"activity": "Specificity similar to chymotrypsin C.",
"evidence": [
{
"id": "P08311",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08311"
}
]
},
{
"ec_number": "3.4.21.20",
"activity": "",
"evidence": [
{
"id": "P08311",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P08311"
}
]
}
]
},
{
"uniprot_ac": "P10153",
"gene_name": "RNASE2",
"activity": [
{
"ec_number": "4.6.1.18",
"activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].",
"evidence": [
{
"id": "P10153",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10153"
}
]
},
{
"ec_number": "4.6.1.18",
"activity": "",
"evidence": [
{
"id": "P10153",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10153"
}
]
}
]
},
{
"uniprot_ac": "P10619",
"gene_name": "CTSA",
"activity": [
{
"ec_number": "3.4.16.-",
"activity": "",
"evidence": [
{
"id": "P10619",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10619"
}
]
},
{
"ec_number": "3.4.16.5",
"activity": "Release of a C-terminal amino acid with broad specificity.",
"evidence": [
{
"id": "P10619",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10619"
}
]
},
{
"ec_number": "3.4.16.5",
"activity": "",
"evidence": [
{
"id": "P10619",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P10619"
}
]
}
]
},
{
"uniprot_ac": "P11216",
"gene_name": "PYGB",
"activity": [
{
"ec_number": "2.4.1.1",
"activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.",
"evidence": [
{
"id": "P11216",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11216"
}
]
},
{
"ec_number": "2.4.1.1",
"activity": "",
"evidence": [
{
"id": "P11216",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P11216"
}
]
}
]
},
{
"uniprot_ac": "P12724",
"gene_name": "RNASE3",
"activity": [
{
"ec_number": "3.1.27.-",
"activity": "",
"evidence": [
{
"id": "P12724",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P12724"
}
]
}
]
},
{
"uniprot_ac": "P15289",
"gene_name": "ARSA",
"activity": [
{
"ec_number": "3.1.6.8",
"activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.",
"evidence": [
{
"id": "P15289",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15289"
}
]
},
{
"ec_number": "3.1.6.8",
"activity": "",
"evidence": [
{
"id": "P15289",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15289"
}
]
}
]
},
{
"uniprot_ac": "P15586",
"gene_name": "GNS",
"activity": [
{
"ec_number": "3.1.6.14",
"activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.",
"evidence": [
{
"id": "P15586",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15586"
}
]
},
{
"ec_number": "3.1.6.14",
"activity": "",
"evidence": [
{
"id": "P15586",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15586"
}
]
}
]
},
{
"uniprot_ac": "P15848",
"gene_name": "ARSB",
"activity": [
{
"ec_number": "3.1.6.12",
"activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.",
"evidence": [
{
"id": "P15848",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15848"
}
]
},
{
"ec_number": "3.1.6.12",
"activity": "",
"evidence": [
{
"id": "P15848",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P15848"
}
]
}
]
},
{
"uniprot_ac": "P16278",
"gene_name": "GLB1",
"activity": [
{
"ec_number": "3.2.1.23",
"activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.",
"evidence": [
{
"id": "P16278",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P16278"
}
]
},
{
"ec_number": "3.2.1.23",
"activity": "",
"evidence": [
{
"id": "P16278",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P16278"
}
]
}
]
},
{
"uniprot_ac": "P20060",
"gene_name": "Hexb",
"activity": [
{
"ec_number": "3.2.1.52",
"activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.",
"evidence": [
{
"id": "P20060",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20060"
}
]
},
{
"ec_number": "3.2.1.52",
"activity": "",
"evidence": [
{
"id": "P20060",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20060"
}
]
}
]
},
{
"uniprot_ac": "P20839",
"gene_name": "IMPDH1",
"activity": [
{
"ec_number": "1.1.1.205",
"activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.",
"evidence": [
{
"id": "P20839",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20839"
}
]
},
{
"ec_number": "1.1.1.205",
"activity": "",
"evidence": [
{
"id": "P20839",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20839"
}
]
}
]
},
{
"uniprot_ac": "P20933",
"gene_name": "AGA",
"activity": [
{
"ec_number": "3.5.1.26",
"activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.",
"evidence": [
{
"id": "P20933",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20933"
}
]
},
{
"ec_number": "3.5.1.26",
"activity": "",
"evidence": [
{
"id": "P20933",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P20933"
}
]
}
]
},
{
"uniprot_ac": "P24158",
"gene_name": "PRTN3",
"activity": [
{
"ec_number": "3.4.21.76",
"activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.",
"evidence": [
{
"id": "P24158",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24158"
}
]
},
{
"ec_number": "3.4.21.76",
"activity": "",
"evidence": [
{
"id": "P24158",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P24158"
}
]
}
]
},
{
"uniprot_ac": "P28482",
"gene_name": "MAPK1",
"activity": [
{
"ec_number": "2.7.11.24",
"activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].",
"evidence": [
{
"id": "P28482",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28482"
}
]
},
{
"ec_number": "2.7.11.24",
"activity": "",
"evidence": [
{
"id": "P28482",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P28482"
}
]
}
]
},
{
"uniprot_ac": "P29416",
"gene_name": "Hexa",
"activity": [
{
"ec_number": "3.2.1.52",
"activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.",
"evidence": [
{
"id": "P29416",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P29416"
}
]
},
{
"ec_number": "3.2.1.52",
"activity": "",
"evidence": [
{
"id": "P29416",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P29416"
}
]
}
]
},
{
"uniprot_ac": "P30041",
"gene_name": "PRDX6",
"activity": [
{
"ec_number": "1.11.1.27",
"activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.",
"evidence": [
{
"id": "P30041",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30041"
}
]
},
{
"ec_number": "3.1.1.4",
"activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).",
"evidence": [
{
"id": "P30041",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30041"
}
]
},
{
"ec_number": "2.3.1.23",
"activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.",
"evidence": [
{
"id": "P30041",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30041"
}
]
},
{
"ec_number": "1.11.1.27",
"activity": "",
"evidence": [
{
"id": "P30041",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P30041"
}
]
}
]
},
{
"uniprot_ac": "P34059",
"gene_name": "GALNS",
"activity": [
{
"ec_number": "3.1.6.4",
"activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.",
"evidence": [
{
"id": "P34059",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P34059"
}
]
},
{
"ec_number": "3.1.6.4",
"activity": "",
"evidence": [
{
"id": "P34059",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P34059"
}
]
}
]
},
{
"uniprot_ac": "P42685",
"gene_name": "FRK",
"activity": [
{
"ec_number": "2.7.10.2",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
"evidence": [
{
"id": "P42685",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P42685"
}
]
},
{
"ec_number": "2.7.10.2",
"activity": "",
"evidence": [
{
"id": "P42685",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P42685"
}
]
}
]
},
{
"uniprot_ac": "P53396",
"gene_name": "ACLY",
"activity": [
{
"ec_number": "2.3.3.8",
"activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.",
"evidence": [
{
"id": "P53396",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53396"
}
]
},
{
"ec_number": "2.3.3.8",
"activity": "",
"evidence": [
{
"id": "P53396",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P53396"
}
]
}
]
},
{
"uniprot_ac": "P53634",
"gene_name": "CTSC",
"activity": [
{
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