{
"uniprot_canonical_ac": "P06865-1",
"uniprot_ac": "P06865",
"uniprot_id": "HEXA_HUMAN",
"mass": {
"chemical_mass": 60703.0,
"monoisotopic_mass": 60703.0
},
"refseq": {
"ac": "NP_000511",
"name": "beta-hexosaminidase subunit alpha isoform 2 preproprotein",
"summary": "This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511"
},
"gene_names": [
{
"name": "HEXA",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P06865",
"id": "P06865"
},
{
"name": "HEXA",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511",
"id": "NP_000511"
},
{
"name": "TSD",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511",
"id": "NP_000511"
}
],
"protein_names": [
{
"name": "Beta-hexosaminidase subunit alpha",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P06865"
},
{
"name": "3.2.1.52",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06865"
},
{
"name": "Beta-N-acetylhexosaminidase subunit alpha",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06865"
},
{
"name": "Hexosaminidase subunit A",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06865"
},
{
"name": "N-acetyl-beta-glucosaminidase subunit alpha",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P06865"
},
{
"name": "beta-hexosaminidase subunit alpha isoform 2 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511",
"id": "NP_000511"
},
{
"name": "beta-hexosaminidase subunit alpha; hexosaminidase subunit A; hexosaminidase A (alpha polypeptide); beta-N-acetylhexosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit alpha",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511",
"id": "NP_000511"
}
],
"function": [
{
"annotation": "Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000511",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511"
},
{
"database": "PubMed",
"id": "34554397",
"url": "https://glygen.org/publication/PubMed/34554397"
}
]
},
{
"annotation": "Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000511",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511"
},
{
"database": "PubMed",
"id": "36907859",
"url": "https://glygen.org/publication/PubMed/36907859"
}
]
},
{
"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 S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM2 (PubMed:11707436). 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).",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865#function"
},
{
"database": "PubMed",
"id": "8672428",
"url": "https://glygen.org/publication/PubMed/8672428"
},
{
"database": "PubMed",
"id": "9694901",
"url": "https://glygen.org/publication/PubMed/9694901"
},
{
"database": "PubMed",
"id": "8123671",
"url": "https://glygen.org/publication/PubMed/8123671"
},
{
"database": "PubMed",
"id": "11707436",
"url": "https://glygen.org/publication/PubMed/11707436"
}
]
},
{
"annotation": "This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000511",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000511"
}
]
}
],
"disease": [
{
"disease_id": "DOID:3320",
"recommended_name": {
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "Tay-Sachs disease",
"description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
},
"synonyms": [
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, B, B1 variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, several forms",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Hex A pseudodeficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "disease, Tay-Sachs",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2 gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2-gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, adult chronic type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TAY-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TSD",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, juvenile",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, pseudo-Ab variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "gangliosidosis GM2, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexa deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency, adult type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase alpha-subunit deficiency (variant B)",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "sphingolipidosis, Tay-Sachs",
"description": ""
},
{
"id": "MIM:272800",
"resource": "MIM",
"url": "https://www.omim.org/entry/272800",
"name": "GM2-gangliosidosis 1",
"description": "GM2-gangliosidosis 1"
}
],
"evidence": [
{
"id": "272800",
"database": "MIM",
"url": "https://www.omim.org/entry/272800"
},
{
"id": "3073",
"database": "GlyCosmos",
"url": "https://glycosmos.org/glycogenes/show/3073#disease"
}
]
},
{
"disease_id": "DOID:4795",
"recommended_name": {
"id": "DOID:4795",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4795",
"name": "GM2 gangliosidosis, AB variant",
"description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
},
"synonyms": [
{
"id": "DOID:4795",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4795",
"name": "Tay-Sachs disease AB variant",
"description": ""
},
{
"id": "DOID:4795",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4795",
"name": "Tay-Sachs disease, variant AB",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "Tay-Sachs disease AB variant",
"description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "Tay-Sachs disease, variant AB",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "hexosaminidase activator deficiency",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "Ab variant GM2-gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "GM2 activator deficiency",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "GM2 gangliosidosis, AB variant",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "GM2-gangliosidosis, AB variant",
"description": ""
},
{
"id": "MONDO:0010099",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099",
"name": "Tay-Sachs disease, AB variant",
"description": ""
},
{
"id": "MIM:272750",
"resource": "MIM",
"url": "https://www.omim.org/entry/272750",
"name": "GM2-gangliosidosis AB",
"description": "GM2-gangliosidosis AB"
}
],
"evidence": [
{
"id": "0010099",
"database": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010099"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs774220090",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774220090"
},
{
"id": "rs774220090",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774220090"
},
{
"id": "rs774220090",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs774220090#frequency_tab"
},
{
"id": "rs774220090",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs774220090"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 115,
"end_pos": 115,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).",
"chr_id": "15",
"chr_pos": "72356526",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N115",
"keywords": [
"ebi",
"germline",
"disease"
],
"disease": [
{
"disease_id": "DOID:3320",
"recommended_name": {
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "Tay-Sachs disease",
"description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
},
"synonyms": [
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, B, B1 variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, several forms",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Hex A pseudodeficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "disease, Tay-Sachs",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2 gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2-gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, adult chronic type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TAY-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TSD",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, juvenile",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, pseudo-Ab variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "gangliosidosis GM2, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexa deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency, adult type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase alpha-subunit deficiency (variant B)",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "sphingolipidosis, Tay-Sachs",
"description": ""
},
{
"id": "MIM:272800",
"resource": "MIM",
"url": "https://www.omim.org/entry/272800",
"name": "GM2-gangliosidosis 1",
"description": "GM2-gangliosidosis 1"
}
]
}
]
},
{
"evidence": [
{
"id": "rs930231608",
"database": "dbSNP",
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{
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},
{
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"site_lbl": "T159",
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},
{
"evidence": [
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{
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{
"id": "rs780134593",
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],
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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).",
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{
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{
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},
{
"id": "MONDO:0010100",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
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},
{
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},
{
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},
{
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{
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},
{
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},
{
"id": "MONDO:0010100",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
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},
{
"id": "MONDO:0010100",
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},
{
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TSD",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, juvenile",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, pseudo-Ab variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "gangliosidosis GM2, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexa deficiency",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency, adult type",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
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},
{
"id": "MIM:272800",
"resource": "MIM",
"url": "https://www.omim.org/entry/272800",
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}
],
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},
{
"evidence": [
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"id": "P06865",
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],
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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"description": ""
},
{
"id": "DOID:4159",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:4159",
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}
]
}
],
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"cancer",
"disease"
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},
{
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{
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{
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{
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{
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},
{
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],
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{
"id": "DOID:2394",
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"url": "http://disease-ontology.org/term/DOID:2394",
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{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
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},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
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},
{
"id": "DOID:2394",
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"url": "http://disease-ontology.org/term/DOID:2394",
"name": "primary ovarian cancer",
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},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
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{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
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},
{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
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},
{
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"name": "ovarian cancer, susceptibility to",
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},
{
"id": "MONDO:0011931",
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"url": "https://monarchinitiative.org/disease/MONDO:0011931",
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{
"id": "MONDO:0008170",
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{
"id": "MONDO:0008170",
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"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
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{
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{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
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},
{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian cancer",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian cancer, somatic",
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"id": "MONDO:0008170",
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"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
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]
},
{
"disease_id": "DOID:3320",
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"url": "http://disease-ontology.org/term/DOID:3320",
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},
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "hexosaminidase A deficiency",
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},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, B, B1 variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, several forms",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Hex A pseudodeficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "disease, Tay-Sachs",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2 gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2-gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, adult chronic type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TAY-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TSD",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, juvenile",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, pseudo-Ab variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "gangliosidosis GM2, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexa deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency, adult type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase alpha-subunit deficiency (variant B)",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "sphingolipidosis, Tay-Sachs",
"description": ""
},
{
"id": "MIM:272800",
"resource": "MIM",
"url": "https://www.omim.org/entry/272800",
"name": "GM2-gangliosidosis 1",
"description": "GM2-gangliosidosis 1"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease",
"ebi"
]
},
{
"evidence": [
{
"id": "rs1326725996",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1326725996"
},
{
"id": "rs1326725996",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1326725996#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 297,
"end_pos": 297,
"sequence_org": "T",
"sequence_mut": "A",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNA).",
"chr_id": "15",
"chr_pos": "72349176",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T297",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs750727201",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750727201"
},
{
"id": "rs750727201",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750727201"
},
{
"id": "rs750727201",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs750727201#frequency_tab"
},
{
"id": "rs750727201",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs750727201"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 465,
"end_pos": 465,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNT->NNT).",
"chr_id": "15",
"chr_pos": "72346263",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D465",
"keywords": [
"ebi",
"germline",
"disease"
],
"disease": [
{
"disease_id": "DOID:3320",
"recommended_name": {
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "Tay-Sachs disease",
"description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
},
"synonyms": [
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "DOID:3320",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3320",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, B, B1 variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, several forms",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Hex A pseudodeficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "disease, Tay-Sachs",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase A deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2 gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "B variant GM2-gangliosidosis",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2 gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, adult chronic type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "GM2-gangliosidosis, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TAY-Sachs disease",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "TSD",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, juvenile",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, pseudo-Ab variant",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "Tay-Sachs disease, variant B1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "gangliosidosis GM2, type 1",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexa deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase a deficiency, adult type",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "hexosaminidase alpha-subunit deficiency (variant B)",
"description": ""
},
{
"id": "MONDO:0010100",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010100",
"name": "sphingolipidosis, Tay-Sachs",
"description": ""
},
{
"id": "MIM:272800",
"resource": "MIM",
"url": "https://www.omim.org/entry/272800",
"name": "GM2-gangliosidosis 1",
"description": "GM2-gangliosidosis 1"
}
]
}
]
},
{
"evidence": [
{
"id": "rs1168832090",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168832090"
},
{
"id": "rs1168832090",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1168832090"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 488,
"end_pos": 488,
"sequence_org": "K",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLT->NLT).",
"chr_id": "15",
"chr_pos": "72345508",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "K488",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 115,
"end_pos": 115,
"sequence_org": "N",
"sequence_mut": "Q",
"comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-157 and Q-295.",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
},
{
"database": "PubMed",
"id": "1533633",
"url": "https://glygen.org/publication/PubMed/1533633"
}
]
},
{
"start_pos": 157,
"end_pos": 157,
"sequence_org": "N",
"sequence_mut": "Q",
"comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295.",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
},
{
"database": "PubMed",
"id": "1533633",
"url": "https://glygen.org/publication/PubMed/1533633"
}
]
},
{
"start_pos": 295,
"end_pos": 295,
"sequence_org": "N",
"sequence_mut": "Q",
"comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-157.",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
},
{
"database": "PubMed",
"id": "1533633",
"url": "https://glygen.org/publication/PubMed/1533633"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "94.25",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "86.28",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "93.07",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "90.6",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "97.86",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "97.49",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "92.17",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "94.59",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "97.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "89.42",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "92.55",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "96.18",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "96.25",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213614",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213614"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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",
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"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": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"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",
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"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
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"url": "http://disease-ontology.org/term/DOID:10534",
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},
{
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"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",
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"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",
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"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",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"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": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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": "P06865",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P06865"
}
],
"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",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
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},
{
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},
{
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{
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},
{
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},
{
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},
{
"id": "A0A804HK32",
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]
},
{
"id": "A0A804HK32-1",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
"id": "H3BS10",
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},
{
"id": "H3BS10-1",
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},
{
"id": "H3BT62",
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},
{
"id": "H3BT62-1",
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},
{
"id": "H3BTD4",
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},
{
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},
{
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},
{
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{
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},
{
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},
{
"id": "P06865",
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},
{
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},
{
"id": "P06865-2",
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]
}
],
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"length": 529,
"header": "sp|P06865-1|HEXA_HUMAN Isoform 1 of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=2 CANONICAL=P06865-1"
},
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{
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"header": "tr|A0A087WTY2-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
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"id": "ENST00000567213.2",
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},
{
"database": "Ensembl Peptide",
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}
]
}
},
{
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"header": "tr|A0A804HIC7-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"database": "Ensembl Transcript",
"id": "ENST00000683735.1",
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},
{
"database": "Ensembl Peptide",
"id": "ENSP00000508336.1",
"url": "https://www.ensembl.org/id/ENSP00000508336.1"
}
]
}
},
{
"isoform_ac": "A0A804HIC8-1",
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"length": 390,
"header": "tr|A0A804HIC8-1|A0A804HIC8_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"database": "Ensembl Transcript",
"id": "ENST00000683884.1",
"url": "https://www.ensembl.org/id/ENST00000683884.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507004.1",
"url": "https://www.ensembl.org/id/ENSP00000507004.1"
}
]
}
},
{
"isoform_ac": "A0A804HIQ5-1",
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"sequence": {
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"length": 485,
"header": "tr|A0A804HIQ5-1|A0A804HIQ5_HUMAN Computationally mapped isoform of Beta-hexosaminidase OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"start_pos": 72375972,
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{
"database": "Ensembl Transcript",
"id": "ENST00000683860.1",
"url": "https://www.ensembl.org/id/ENST00000683860.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507179.1",
"url": "https://www.ensembl.org/id/ENSP00000507179.1"
}
]
}
},
{
"isoform_ac": "A0A804HIU3-1",
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"sequence": "MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQT",
"length": 358,
"header": "tr|A0A804HIU3-1|A0A804HIU3_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000684263.1",
"url": "https://www.ensembl.org/id/ENST00000684263.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000508369.1",
"url": "https://www.ensembl.org/id/ENSP00000508369.1"
}
]
}
},
{
"isoform_ac": "A0A804HJ97-1",
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"length": 257,
"header": "tr|A0A804HJ97-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000682177.1",
"url": "https://www.ensembl.org/id/ENST00000682177.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507409.1",
"url": "https://www.ensembl.org/id/ENSP00000507409.1"
}
]
}
},
{
"isoform_ac": "A0A804HJK0-1",
"url": "",
"sequence": {
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"length": 96,
"header": "tr|A0A804HJK0-1|A0A804HJK0_HUMAN Computationally mapped isoform of Hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=4 SV=1 CANONICAL=P06865-1"
},
"locus": {
"chromosome": "15",
"start_pos": 72375972,
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"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000682721.1",
"url": "https://www.ensembl.org/id/ENST00000682721.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507535.1",
"url": "https://www.ensembl.org/id/ENSP00000507535.1"
}
]
}
},
{
"isoform_ac": "A0A804HK32-1",
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"sequence": {
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"length": 90,
"header": "tr|A0A804HK32-1|A0A804HK32_HUMAN Computationally mapped isoform of Hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=4 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"start_pos": 72375972,
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"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000682657.1",
"url": "https://www.ensembl.org/id/ENST00000682657.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000507753.1",
"url": "https://www.ensembl.org/id/ENSP00000507753.1"
}
]
}
},
{
"isoform_ac": "A0A804HKX5-1",
"url": "",
"sequence": {
"sequence": "MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRL",
"length": 473,
"header": "tr|A0A804HKX5-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000683681.1",
"url": "https://www.ensembl.org/id/ENST00000683681.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000508110.1",
"url": "https://www.ensembl.org/id/ENSP00000508110.1"
}
]
}
},
{
"isoform_ac": "A0A804HLJ5-1",
"url": "",
"sequence": {
"sequence": "MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLW",
"length": 474,
"header": "tr|A0A804HLJ5-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000684520.1",
"url": "https://www.ensembl.org/id/ENST00000684520.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000506826.1",
"url": "https://www.ensembl.org/id/ENSP00000506826.1"
}
]
}
},
{
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"sequence": {
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"length": 540,
"header": "tr|H3BP20-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000566304.5",
"url": "https://www.ensembl.org/id/ENST00000566304.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000455114.1",
"url": "https://www.ensembl.org/id/ENSP00000455114.1"
}
]
}
},
{
"isoform_ac": "H3BQ04-1",
"url": "",
"sequence": {
"sequence": "MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRVLYQQD",
"length": 143,
"header": "tr|H3BQ04-1|HEXA_HUMAN Computationally mapped isoform of Beta-hexosaminidase subunit alpha OS=Homo sapiens OX=9606 GN=HEXA PE=1 SV=1 CANONICAL=P06865-1"
},
"locus": {
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{
"database": "Ensembl Transcript",
"id": "ENST00000567411.5",
"url": "https://www.ensembl.org/id/ENST00000567411.5"
},
{
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"gene_name": "Hexa",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MAGCRLWVSLLLAAALACLATALWPWPQYIQTYHRRYTLYPNNFQFRYHVSSAAQAGCVVLDEAFRRYRNLLFGSGSWPRPSFSNKQQTLGKNILVVSVVTAECNEFPNLESVENYTLTINDDQCLLASETVWGALRGLETFSQLVWKSAEGTFFINKTKIKDFPRFPHRGVLLDTSRHYLPLSSILDTLDVMAYNKFNVFHWHLVDDSSFPYESFTFPELTRKGSFNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGAPGLLTPCYSGSHLSGTFGPVNPSLNSTYDFMSTLFLEISSVFPDFYLHLGGDEVDFTCWKSNPNIQAFMKKKGFTDFKQLESFYIQTLLDIVSDYDKGYVVWQEVFDNKVKVRPDTIIQVWREEMPVEYMLEMQDITRAGFRALLSAPWYLNRVKYGPDWKDMYKVEPLAFHGTPEQKALVIGGEACMWGEYVDSTNLVPRLWPRAGAVAERLWSSNLTTNIDFAFKRLSHFRCELVRRGIQAQPISVGYCEQEFEQT",
"length": 528
},
"evidence": [
{
"id": "45930383",
"url": "http://www.informatics.jax.org/homology/45930383",
"database": "MGI"
},
{
"id": "P06865",
"url": "https://omabrowser.org/oma/group/P06865/",
"database": "OMA"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "Q641X3-1",
"protein_name": "Beta-hexosaminidase subunit alpha",
"gene_name": "Hexa",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MAGCRLWVSLLLAAALACLATALWPWPQYIQTSHRRYTLYPNNFQFRYHAGSAAQAGCVVLDEAFRRYRSLLFGSGSWPRPSFSKKQQPLGKNILMVSVVTAECNEFPNLESVENYTLTINDDQCLLSSETVWGALRGLETFSQLVWKSAEGTFFINKTKITDFPRFPHRGILLDTSRHYLPLSSILNTLDVMAYNKFNVFHWHLVDDSSFPYESFTFPELTRKGSFNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGAGVPGLLTPCYSGSRLSGTYGPVNPSLNSTYDFMSTFFLEISSVFPDFYLHLGGDEVDFTCWKSNPNIQAFMKKKGFTDYKQLESFYIQTLLDIVSDYDKGYVVWQEVFDNKVKVRPDTIIQVWREEMPVQYMKEIEAITQAGFRALLSAPWYLNRVKYGPDWKEMYKVEPLAFRGTPAQKALVIGGEACMWGEYVDSTNLVPRLWPRAGAIAERLWSSNLTTNMDFAFKRLSHFRCELLRRGIQAQPISVGYCEQEFEHT",
"length": 528
},
"evidence": [
{
"id": "45930383",
"url": "http://www.informatics.jax.org/homology/45930383",
"database": "MGI"
},
{
"id": "P06865",
"url": "https://omabrowser.org/oma/group/P06865/",
"database": "OMA"
}
],
"common_name": "Rat"
}
],
"go_annotation": {
"categories": [
{
"name": "Cellular Component",
"total": 8,
"go_terms": [
{
"name": "lysosome",
"id": "GO:0005764",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "intracellular membrane-bounded organelle",
"id": "GO:0043231",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "azurophil granule",
"id": "GO:0042582",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042582",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "lysosomal lumen",
"id": "GO:0043202",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "beta-N-acetylhexosaminidase complex",
"id": "GO:1905379",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905379",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 19,
"go_terms": [
{
"name": "carbohydrate metabolic process",
"id": "GO:0005975",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "carbohydrate derivative metabolic process",
"id": "GO:1901135",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901135",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "ganglioside catabolic process",
"id": "GO:0006689",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006689",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "sexual reproduction",
"id": "GO:0019953",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019953",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "dermatan sulfate catabolic process",
"id": "GO:0030209",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030209",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "neuromuscular process controlling balance",
"id": "GO:0050885",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "myelination",
"id": "GO:0042552",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "skeletal system development",
"id": "GO:0001501",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "lysosome organization",
"id": "GO:0007040",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "adult walking behavior",
"id": "GO:0007628",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "SMAD protein signal transduction",
"id": "GO:0060395",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "sensory perception of sound",
"id": "GO:0007605",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "lipid storage",
"id": "GO:0019915",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "glycosaminoglycan biosynthetic process",
"id": "GO:0006024",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "glycosaminoglycan metabolic process",
"id": "GO:0030203",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030203",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "maintenance of location in cell",
"id": "GO:0051651",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051651",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "neuromuscular process controlling posture",
"id": "GO:0050884",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "cell morphogenesis involved in neuron differentiation",
"id": "GO:0048667",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048667",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "hyaluronan catabolic process",
"id": "GO:0030214",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030214",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 4,
"go_terms": [
{
"name": "beta-N-acetylhexosaminidase activity",
"id": "GO:0004563",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004563",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "N-acetyl-beta-D-galactosaminidase activity",
"id": "GO:0102148",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102148",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "protein heterodimerization activity",
"id": "GO:0046982",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
},
{
"name": "acetylglucosaminyltransferase activity",
"id": "GO:0008375",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008375",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 115,
"end_pos": 117,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 157,
"end_pos": 159,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 295,
"end_pos": 297,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2) (PubMed:1533633, PubMed:16698036, PubMed:19159218) (Probable). N-linked glycan at Asn-157 consists of either GlcNAc or GlcNAc(2)-Man(7-9). N-linked glycan at Asn-295 consists of either GlcNAc, GlcNAc-Fuc, or GlcNAc(2)-Man(4) (Probable).",
"evidence": [
{
"database": "UniProtKB",
"id": "P06865",
"url": "https://www.uniprot.org/uniprot/P06865"
},
{
"database": "PubMed",
"id": "16698036",
"url": "https://glygen.org/publication/PubMed/16698036"
},
{
"database": "PubMed",
"id": "19159218",
"url": "https://glygen.org/publication/PubMed/19159218"
},
{
"database": "PubMed",
"id": "11707436",
"url": "https://glygen.org/publication/PubMed/11707436"
},
{
"database": "PubMed",
"id": "1533633",
"url": "https://glygen.org/publication/PubMed/1533633"
}
]
}
],
"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-3656259",
"name": "Defective HEXA does not cleave the terminal GalNAc from DS",
"equation": "",
"summary": "Beta-hexosaminidase A (HEXA) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. 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). The severest form of Tay-Sachs disease, infant-onset, is characterised by neurodegeneration, blindness and death by age 2 or 3. Hexosaminidase activity in this form of the disease is below 10% of normal levels (Okada et al. 1971). The most frequent mutation of infant-onset Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal (p.Y427Ifs*5) resulting in a deficienct mRNA (Myerowitz & Costigan 1988).
More than 100 mutations in HEXA have been identified to date with varying severity of disease. The next most common mutation produces abnormally processed RNA; a G to C transversion at the 5' end of intron 12 (Arpaia et al. 1988, Myerowitz 1988) (not annotated here). This mutation, together with Y427Ifs*5, account for ~97% of the HEXA gene mutations in the Ashkenazi Jewish population (Mahuran 1995).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1"
],
"evidence": [
{
"id": "R-HSA-3656259",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3656259"
}
]
},
{
"id": "R-HSA-9035976",
"name": "Defective HEXA does not cleave the terminall GalNAc from small HA fragments",
"equation": "",
"summary": "Beta-hexosaminidase A (HEXA) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. 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). The severest form of Tay-Sachs disease, infant-onset, is characterised by neurodegeneration, blindness and death by age 2 or 3. Hexosaminidase activity in this form of the disease is below 10% of normal levels (Okada et al. 1971). The most frequent mutation of infant-onset Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal (p.Y427Ifs*5) resulting in a deficienct mRNA (Myerowitz & Costigan 1988).
More than 100 mutations in HEXA have been identified to date with varying severity of disease. The next most common mutation produces abnormally processed RNA; a G to C transversion at the 5' end of intron 12 (Arpaia et al. 1988, Myerowitz 1988) (not annotated here). This mutation, together with Y427Ifs*5, account for ~97% of the HEXA gene mutations in the Ashkenazi Jewish population (Mahuran 1995).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1"
],
"evidence": [
{
"id": "R-HSA-9035976",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035976"
}
]
},
{
"id": "R-HSA-9035978",
"name": "Defective HEXA does not cleave the terminal GalNAc from keratan sulfate",
"equation": "",
"summary": "Beta-hexosaminidase A (HEXA) cleaves the terminal N-acetyl galactosamine (GalNAc) from glucosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. 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). The severest form of Tay-Sachs disease, infant-onset, is characterised by neurodegeneration, blindness and death by age 2 or 3. Hexosaminidase activity in this form of the disease is below 10% of normal levels (Okada et al. 1971). The most frequent mutation of infant-onset Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal (p.Y427Ifs*5) resulting in a deficienct mRNA (Myerowitz & Costigan 1988).
More than 100 mutations in HEXA have been identified to date with varying severity of disease. The next most common mutation produces abnormally processed RNA; a G to C transversion at the 5' end of intron 12 (Arpaia et al. 1988, Myerowitz 1988) (not annotated here). This mutation, together with Y427Ifs*5, account for ~97% of the HEXA gene mutations in the Ashkenazi Jewish population (Mahuran 1995).",
"cellular_location": "lysosomal lumen",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P06865-1"
],
"evidence": [
{
"id": "R-HSA-9035978",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035978"
}
]
},
{
"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": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "C01132",
"database": "COMPOUND",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
"id": "C01132",
"database": "COMPOUND",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "C01132",
"database": "COMPOUND",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
"id": "C01132",
"database": "COMPOUND",
"url": ""
},
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "C01132",
"database": "COMPOUND",
"url": ""
},
{
"id": "000003861733",
"database": "ZINC",
"url": ""
},
{
"id": "000002562219",
"database": "ZINC",
"url": ""
},
{
"id": "28037",
"database": "ChEBI",
"url": ""
},
{
"id": "G27025MB",
"database": "GlyTouCan",
"url": ""
},
{
"id": "C01132",
"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": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63853",
"database": "ChEBI",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63853",
"database": "ChEBI",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "63853",
"database": "ChEBI",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63853",
"database": "ChEBI",
"url": ""
},
{
"id": "000087528707",
"database": "ZINC",
"url": ""
},
{
"id": "000087528704",
"database": "ZINC",
"url": ""
},
{
"id": "G08421",
"database": "KEGG Glycan",
"url": ""
},
{
"id": "63853",
"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": [
{
"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": "63852",
"database": "ChEBI",
"url": ""
},
{
"id": "000096085299",
"database": "ZINC",
"url": ""
},
{
"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": "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": "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": "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": "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": "Q641X3",
"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": "Q641X3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q641X3"
}
]
},
{
"ec_number": "3.2.1.52",
"activity": "",
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