{ "uniprot_canonical_ac": "A2VD16-1", "ptm_annotation": [], "sequence": { "header": "tr|A2VD16-1|A2VD16_RAT Isoform 1 of Aldo-keto reductase family 1, member C12-like 1 OS=Rattus norvegicus OX=10116 GN=Akr1c12l1 PE=2 SV=1 CANONICAL=A2VD16-1", "length": 323, "sequence": "MSSKHHCVKLNDGHFIPALGFGTSIPNEVPKSKSLEAVHLAIDAGYHHIDTASAYQIEEEIGQAIQSKIKAGVVKREDMFITTKLWCTCFRPELVKPALEKSLKNLQLDYADLYIMHYPVPMKSGDKYLPVDDKGKWLLDTVDFCDTWEMLEKCKDAGLVKSIGVSNFNHKQLERLLNKPGLKYKPVCNQVECHLYMNQSKLLDYCKSKDIVLVAYGALGTQRYKEWVDQNSPVLLDDPVLCDVAKKNKRSPALIALRYLVQREVVPLAQSFKENEMRENLQVFEFQLSPEDMKTLDGLNKNFRYLSAEFLAGHPEYPFSEEY" }, "uniprot_id": "A2VD16_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17475203", "type": "PubMed", "id": "17475203" } ], "title": "Rat NAD+-dependent 3alpha-hydroxysteroid dehydrogenase (AKR1C17): a member of the aldo-keto reductase family highly expressed in kidney cytosol.", "journal": "Archives of biochemistry and biophysics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216.1", "id": "NP_001129216.1", "database": "RefSeq" } ], "authors": "Sanai M, Endo S, Matsunaga T, Ishikura S, Tajima K, El-Kabbani O, Hara A", "date": "2007" } ], "uniprot_ac": "A2VD16", "site_annotation": [ { "end_pos": 200, "annotation": "n_glycosylation_sequon", "start_pos": 198 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2VD16#A2VD16-1", "isoform_ac": "A2VD16-1", "locus": { "end_pos": 69588146, "strand": "-", "start_pos": 69598949, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000064884", "id": "ENSRNOT00000064884", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000059125", "id": "ENSRNOP00000059125", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2VD16-1|A2VD16_RAT Isoform 1 of Aldo-keto reductase family 1, member C12-like 1 OS=Rattus norvegicus OX=10116 GN=Akr1c12l1 PE=2 SV=1 CANONICAL=A2VD16-1", "length": 323, "sequence": "MSSKHHCVKLNDGHFIPALGFGTSIPNEVPKSKSLEAVHLAIDAGYHHIDTASAYQIEEEIGQAIQSKIKAGVVKREDMFITTKLWCTCFRPELVKPALEKSLKNLQLDYADLYIMHYPVPMKSGDKYLPVDDKGKWLLDTVDFCDTWEMLEKCKDAGLVKSIGVSNFNHKQLERLLNKPGLKYKPVCNQVECHLYMNQSKLLDYCKSKDIVLVAYGALGTQRYKEWVDQNSPVLLDDPVLCDVAKKNKRSPALIALRYLVQREVVPLAQSFKENEMRENLQVFEFQLSPEDMKTLDGLNKNFRYLSAEFLAGHPEYPFSEEY" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:498790", "resource": "KEGG Pathway", "id": "rno:498790", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216.1", "annotation": "AKR1C17 is a member of the aldo-keto reductase family highly expressed in kidney cytosol.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216.1", "id": "NP_001129216.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZPY8-1", "protein_name": "Aldo-keto reductase family 1, member C13", "sequence": { "length": 323, "sequence": "MSSKQHCVKLNDGHFIPALGFGTYKPKEVPKSKSLEAAHLAIDAGYRHIDTAYAYQIEEEIGQAIQSKIKAGVVKREDMFITTKLWCTCFRPELVKPALEKSLKNLQLDYADLYIMHYPVPMKSGDNDFPVDEKGKSLLDTVDFCDTWEMLEKCKDAGLVKSIGVSNFNHKQLERLLNKPGLKYKPVCNQVECHLYLNQSKLLDYCKSKDIVLVAYGALGTQRYKEWVDQNSPVLLNDPVLCDVAKKNKRSPALIALRYLVQRGVVPLAQSFKENEMRENLQVFDFQLSPEDMKTLDGLNKNFRYLSAEFLAGHPEYPFSEEY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/121208", "id": "121208", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Akr1c13", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8VC28-1", "protein_name": "Aldo-keto reductase family 1 member C13", "sequence": { "length": 323, "sequence": "MSSKQHCVKLNDGHLIPALGFGTYKPKEVPKSKSLEAACLALDVGYRHVDTAYAYQVEEEIGQAIQSKIKAGVVKREDLFITTKLWCTCFRPELVKPALEKSLKKLQLDYVDLYIMHYPVPMKSGDNDFPVNEQGKSLLDTVDFCDTWERLEECKDAGLVKSIGVSNFNHRQLERILNKPGLKYKPVCNQVECHLYLNQRKLLDYCESKDIVLVAYGALGTQRYKEWVDQNSPVLLNDPVLCDVAKKNKRSPALIALRYLIQRGIVPLAQSFKENEMRENLQVFGFQLSPEDMKTLDGLNKNFRYLPAEFLVDHPEYPFVEEY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/121208", "id": "121208", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Akr1c13", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q9JLI0-1", "protein_name": "Aldo-keto reductase a", "sequence": { "length": 323, "sequence": "MSSKQHYVKLNDGHLIPALGFGTYKPKEVPKSKSLEAACLALDVGYRHVDTAYAYQVEEEIGQAIQSKIKAGVVKREDLFITTKLWCGCFRPELVKPALEKSLKSLQLDYVDLYLIHYPVPMKPGDNESPLDENGKFLLDTVDFCDTWERLEECKDAGLVKSIGVSNFNHRQLERILNKPGLKYKPVCNQVECHLYLNQSKLLDYCKSKDIVLVAYGALGTQRYKEWVDQNSPVLLNDPVLCDVAKRNKRSPALIALRYLFQRGIVPLAQSFKENEMRENLQVFEFQLSPEDMKTLDGLNKNFRYLPAEFLADHPEYPFSEEY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/121208", "id": "121208", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Akr1c12", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216.1", "ac": "NP_001129216.1", "name": "aldo-keto reductase family 1, member C12-like 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016229", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "steroid dehydrogenase activity", "id": "GO:0016229" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "alditol:NADP+ 1-oxidoreductase activity", "id": "GO:0004032" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "oxidoreductase activity", "id": "GO:0016491" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "ketosteroid monooxygenase activity", "id": "GO:0047086" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "name": "steroid metabolic process", "id": "GO:0008202" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VD16", "type": "synonym", "resource": "RefSeq", "name": "Akr1c12l1" }, { "url": "https://www.uniprot.org/uniprot/A2VD16", "type": "recommended", "resource": "UniProtKB", "name": "Akr1c12l1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VD16", "type": "synonym", "resource": "RefSeq", "name": "Akr1c17; RGD1559604" }, { "url": "https://www.uniprot.org/uniprot/A2VD16", "type": "synonym", "resource": "UniProtKB", "name": "RGD1559604" } ], 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"url": "http://www.orthodb.org/?query=1016440at2759", "id": "1016440at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11732", "id": "PTHR11732", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF00248", "id": "PF00248", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216", "id": "NP_001129216", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129216.1", "id": "NP_001129216.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1559604", "id": "1559604", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A2VD16", "id": "A2VD16", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0060074", "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0060074", "resource": "Disease Ontology", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "name": "ductal carcinoma in situ", "id": "DOID:0060074" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060074#disease-associations", "id": "0060074", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0080630", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0080630", "resource": "Disease Ontology", "description": "", "name": "precursor B lymphoblastic lymphoma/leukemia", "id": "DOID:0080630" }, { "url": "http://disease-ontology.org/term/DOID:0080630", "resource": "Disease Ontology", "description": "", "name": "B-ALL", "id": "DOID:0080630" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0080630", "resource": "Disease Ontology", "description": "A B-cell acute lymphoblastic leukemia that is 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"resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10283#disease-associations", "id": "10283", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:10591", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "pre-eclamptic toxaemia", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "toxaemia of pregnancy", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "gestational hypertension", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "preeclampsia/eclampsia", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "proteinuric hypertension of pregnancy", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "pregnancy associated hypertension", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "pregnancy toxemia", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "preeclampsia", "id": "DOID:10591" }, { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "", "name": "hypertension induced by pregnancy", "id": "DOID:10591" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.", "name": "preeclampsia/eclampsia 4", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "STOX1 preeclampsia", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "preeclampsia/eclampsia 4", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "Preeclampsia/eclampsia type 4", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "preeclampsia caused by mutation in STOX1", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 4; PEE4", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012266", "resource": "MONDO", "description": "", "name": "PEE4", "id": "MONDO:0012266" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012265", "resource": "MONDO", "description": "", "name": "PEE3", "id": "MONDO:0012265" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012265", "resource": "MONDO", "description": "", "name": "PEE3", "id": "MONDO:0012265" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012265", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 3; PEE3", "id": "MONDO:0012265" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012265", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 3", "id": "MONDO:0012265" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012264", "resource": "MONDO", "description": "", "name": "PEE2", "id": "MONDO:0012264" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012264", "resource": "MONDO", "description": "", "name": "PEE2", "id": "MONDO:0012264" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012264", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 2; PEE2", "id": "MONDO:0012264" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012264", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 2", "id": "MONDO:0012264" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia . If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems.", "name": "HELLP syndrome", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hemolysis, elevated liver enzymes, low platelets in pregnancy", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hemolysis-elevated liver enzymes-low platelets syndrome", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 1; PEE1", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hemolysis-elevated liver enzymes-Low Platelet count syndrome", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "PREECLAMPSIA/eclampsia 1", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hemolysis, elevated liver enzymes, and Low Platelet count", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "toxemia of pregnancy", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hemolysis, elevated liver enzymes, lowered platelets", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "hypertension, pregnancy-induced", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "pee", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "PEE1", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008585", "resource": "MONDO", "description": "", "name": "Preg1", "id": "MONDO:0008585" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "FGFR2-related bent bone dysplasia", "id": "MONDO:0013815" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "bent bone dysplasia syndrome", "id": "MONDO:0013815" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "bent bone dysplasia (BBD)-FGFR2 type", "id": "MONDO:0013815" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "bent bone dysplasia syndrome; BBDS", "id": "MONDO:0013815" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "perinatal lethal bent bone dysplasia", "id": "MONDO:0013815" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013815", "resource": "MONDO", "description": "", "name": "BBDS", "id": "MONDO:0013815" }, { "url": "https://www.omim.org/entry/609404", "resource": "MIM", "description": "Pre-eclampsia/eclampsia 4", "name": "Pre-eclampsia/eclampsia 4", "id": "MIM:609404" }, { "url": "https://www.omim.org/entry/614592", "resource": "MIM", "description": "Bent bone dysplasia syndrome", "name": "Bent bone dysplasia syndrome", "id": "MIM:614592" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10591", "resource": "Disease Ontology", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "name": "pre-eclampsia", "id": "DOID:10591" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10591#disease-associations", "id": "10591", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:1240", "synonyms": [], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1240", "resource": "Disease Ontology", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "name": "leukemia", "id": "DOID:1240" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1240#disease-associations", "id": "1240", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:5603", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "T Acute Lymphoblastic Leukemia", "id": "DOID:5603" }, { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "precursor T-lymphoblastic lymphoma/leukemia", "id": "DOID:5603" }, { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "acute T cell leukemia", "id": "DOID:5603" }, { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "T-cell acute lymphocytic leukaemia", "id": "DOID:5603" }, { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "Precursor T Lymphoblastic Leukemia", "id": "DOID:5603" }, { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "", "name": "acute T cell leukaemia", "id": "DOID:5603" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5603", "resource": "Disease Ontology", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "name": "T-cell acute lymphoblastic leukemia", "id": "DOID:5603" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/5603#disease-associations", "id": "5603", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:9970", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "description": "", "name": "monogenic obesity", "id": "MONDO:0019182" }, { "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "description": "", "name": "genetic obesity (disease)", "id": "MONDO:0019182" }, { "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "description": "", "name": "genetic obesity", "id": "MONDO:0019182" }, { "url": "https://www.omim.org/entry/601665", "resource": "MIM", "description": "Obesity", "name": "Obesity", "id": "MIM:601665" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9970", "resource": "Disease Ontology", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "name": "obesity", "id": "DOID:9970" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9970#disease-associations", "id": "9970", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 36956.0, "chemical_mass": 36956.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2VD16", "name": "Akr1c12l1", "locus": { "end_pos": 69599142, "strand": "+", "start_pos": 69588085, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000050243", "id": "ENSRNOG00000050243", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2VD16#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Aldo-keto reductase family 1, member C12-like 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2VD16", "type": "synonym", "resource": "RefSeq", "name": "aldo-keto reductase family 1, member C12-like 1" } ] }