{ "disease_id": "DOID:10892", "recommended_name": { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." }, "synonyms": [ { "id": "DOID:10892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "name": "familial hypospadias", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "hypospadias 3, autosomal, multifactorial", "description": "" }, { "id": "MONDO:0007802", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "name": "HYSP3", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "HYSP4", "description": "" }, { "id": "MONDO:0010458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "name": "hypospadias 4, X-linked, susceptibility to", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "hypospadias 2, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010423", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "name": "HYSP2", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "hypospadias 1, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "name": "HYSP1", "description": "" }, { "id": "MIM:300758", "resource": "MIM", "url": "https://www.omim.org/entry/300758", "name": "Hypospadias 2, X-linked", "description": "Hypospadias 2, X-linked" }, { "id": "MIM:300633", "resource": "MIM", "url": "https://www.omim.org/entry/300633", "name": "Hypospadias 1, X-linked", "description": "Hypospadias 1, X-linked" } ], "children": [], "id_list": [ "DOID:10892" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:10892", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10892", "categories": [] }, { "id": "MONDO:0007802", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007802", "categories": [] }, { "id": "MONDO:0010458", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010458", "categories": [] }, { "id": "MONDO:0010423", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010423", "categories": [] }, { "id": "MONDO:0010384", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010384", "categories": [] }, { "id": "MIM:300758", "database": "MIM", "url": "https://www.omim.org/entry/300758", "categories": [] }, { "id": "MIM:300633", "database": "MIM", "url": "https://www.omim.org/entry/300633", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VRM7-1", "uniprot_ac": "Q9VRM7", "uniprot_id": "CP307_DROME", "refseq_ac": "NP_001286943", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytochrome P450 307a1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.14.-.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG10594-PC; 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kay-PF; Dfos/kayak; dorsal holes D; Fos; Fos-related antigen; activator protein 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Dfos", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fos-related antigen", "resource": "UniProtKB", "type": "synonym" }, { "name": "dFra", "resource": "UniProtKB", "type": "synonym" }, { "name": "kayak, isoform F", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "kay", "resource": "UniProtKB", "type": "recommended" }, { "name": "AP-1; Ap1; AP1; c-fos; c-Fos; CG15507; CG15509; CG33956; d-fos; d-Fos; D-fos; D-Fos; D-fos/kay; dAP-1; dfos; dFos; Dfos; DFos; DFOS; dFra; dFRA; DFra; dlhD; DM3; DM30; Dmel\\CG33956; fbz; fos; Fos; FOS; fra; Fra; Kay; KAY", "resource": "RefSeq", "type": "synonym" }, { "name": "CG15509", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fra", "resource": "UniProtKB", "type": "synonym" }, { "name": "kay", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q07407-1", "uniprot_ac": "Q07407", "uniprot_id": "FGFR1_DROME", "refseq_ac": "NP_524394", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor homolog 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG7223-PB; 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btl-PB; Fibroblast-growth-factor-receptor; devenir; no terminal cell clones-L; lethal (3) j2E11; fibroblast growth factor receptor; FGFR; fibrobast growth factor receptor; breathless; FGF receptor; fibroblast growth factor receptor 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Protein breathless", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tyrosine kinase 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tyrosine kinase receptor HD-311", "resource": "UniProtKB", "type": "synonym" }, { "name": "breathless, isoform B", "resource": "RefSeq", "type": "synonym" }, { "name": "dFGF-R1", "resource": "UniProtKB", "type": "synonym" }, { "name": "dTk2", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "btl", "resource": "UniProtKB", "type": "recommended" }, { "name": "0844/01; Btl; BTL; BTL/FGFR2; CG32134; CG6714; CT20816; D-FGFR; dev; DFGF-R1; dFGFR; Dfr-2; DFR2; Dmel\\CG32134; DmHD-311; dtk2; Dtk2; fgf-r; Fgf-r; Fgfr; FGFR; FGFR1; HD-311; l(3)00208; l(3)j2E11; Tk2", "resource": "RefSeq", "type": "synonym" }, { "name": "CG32134", "resource": "UniProtKB", "type": "synonym" }, { "name": "FR2", "resource": "UniProtKB", "type": "synonym" }, { "name": "HD-311", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tk2", "resource": "UniProtKB", "type": "synonym" }, { "name": "btl", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P19538-1", "uniprot_ac": "P19538", "uniprot_id": "CI_DROME", "refseq_ac": "NP_524617", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transcriptional activator cubitus interruptus", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG2125-PA; ci-PA; cubitus; cubitus-interruptus-Dominant; cubitus interuptus; cubitis interruptus; cubitus interruptus; cell", "resource": "RefSeq", "type": "synonym" }, { "name": "Transcriptional activator ci", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci C-terminally truncated form", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci form of 155 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci form of 75 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci full-length protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci-155", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci-75", "resource": "UniProtKB", "type": "synonym" }, { "name": "ciFL", "resource": "UniProtKB", "type": "synonym" }, { "name": "cubitus interruptus, isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ci", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG2125", "resource": "UniProtKB", "type": "synonym" }, { "name": "CID", "resource": "UniProtKB", "type": "synonym" }, { "name": "CI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ce; CG2125; Ci; CI; ci-D; Ci/Gli; Ci/GLI; ci155; Ci155; ciA; ciD; CiD; CID; ciR; ci[D]; Ci[D]; d Ci; Dmel\\CG2125; Gli; l(4)102ABc; l(4)13; l(4)17; Siah", "resource": "RefSeq", "type": "synonym" }, { "name": "Ce", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ci155", "resource": "UniProtKB", "type": "synonym" }, { "name": "CiD", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ci[D]", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ci", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG2125", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG2125", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gli", "resource": "UniProtKB", "type": "synonym" }, { "name": "Siah", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci-D", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci155", "resource": "UniProtKB", "type": "synonym" }, { "name": "ciA", "resource": "UniProtKB", "type": "synonym" }, { "name": "ciD", "resource": "UniProtKB", "type": "synonym" }, { "name": "ciR", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci[D]", "resource": "UniProtKB", "type": "synonym" }, { "name": "ci", "resource": "RefSeq", "type": "synonym" }, { "name": "d Ci", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(4)102ABc", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(4)13", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(4)17", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q9VDT9-1", "uniprot_ac": "Q9VDT9", "uniprot_id": "Q9VDT9_DROME", "refseq_ac": "NP_732452", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fibroblast growth factor", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG4608-PA; bnl-PA; fibroblast growth factor; branchless; fibroblast growth factor protein; fibroblast growth factor)", "resource": "RefSeq", "type": "synonym" }, { "name": "FGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "branchless, isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "bnl", "resource": "UniProtKB", "type": "recommended" }, { "name": "BNL", "resource": "UniProtKB", "type": "synonym" }, { "name": "Bnl; BNL; Bnl/FGF; Branchless; CG4608; dFGF; DFGF; DmBnl; Dmel\\CG4608; FGF; FGF-2; l(3)06916; l(3)neo52", "resource": "RefSeq", "type": "synonym" }, { "name": "Bnl", "resource": "UniProtKB", "type": "synonym" }, { "name": "Branchless", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG4608", "resource": "UniProtKB", "type": "synonym" }, { "name": "DFGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmBnl", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG4608", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG4608", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGF-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "bnl", "resource": "RefSeq", "type": "synonym" }, { "name": "dFGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(3)06916", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(3)neo52", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O08537-1", "uniprot_ac": "O08537", "uniprot_id": "ESR2_MOUSE", "refseq_ac": "NP_034287", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Estrogen receptor beta", "resource": "UniProtKB", "type": "recommended" }, { "name": "ER-beta; nuclear receptor subfamily 3 group A member 2; estrogen receptor beta; oestrogen receptor beta", "resource": "RefSeq", "type": "synonym" }, { "name": "ER-beta", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group A member 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "estrogen receptor beta isoform 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Esr2", "resource": "UniProtKB", "type": "recommended" }, { "name": "ERbeta; ER[b]; Estrb", "resource": "RefSeq", "type": "synonym" }, { "name": "Esr2", "resource": "RefSeq", "type": "synonym" }, { "name": "Estrb", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nr3a2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P00184-1", "uniprot_ac": "P00184", "uniprot_id": "CP1A1_MOUSE", "refseq_ac": "NP_001129531", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cytochrome P450 1A1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.14.14.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "4.2.1.152", "resource": "UniProtKB", "type": "synonym" }, { "name": "CYPIA1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450 form 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450-C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450-P1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hydroperoxy icosatetraenoate dehydratase", "resource": "UniProtKB", "type": "synonym" }, { "name": "cytochrome P450 1A1", "resource": "RefSeq", "type": "synonym" }, { "name": "cytochrome P450-P1; cytochrome P450 subfamily I, polypeptide 1; cytochrome P450, 1a1, aromatic compound inducible; cytochrome P450-C; cytochrome P450 form 6; hydroperoxy icosatetraenoate dehydratase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Cyp1a1", "resource": "UniProtKB", "type": "recommended" }, { "name": "AHH; AHRR; CP11; CYPIA1; P450-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Cyp1a-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cyp1a1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q64471-1", "uniprot_ac": "Q64471", "uniprot_id": "GSTT1_MOUSE", "refseq_ac": "NP_032211", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-theta-1", "resource": "RefSeq", "type": "synonym" }, { "name": "GST class-theta-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase theta-1 isoform 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gstt1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gstt1-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Gstt1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P19091-1", "uniprot_ac": "P19091", "uniprot_id": "ANDR_MOUSE", "refseq_ac": "NP_038504", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Androgen receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dihydrotestosterone receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group C member 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "androgen receptor", "resource": "RefSeq", "type": "synonym" }, { "name": "dihydrotestosterone receptor; nuclear receptor subfamily 3 group C member 4; testicular feminization", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ar", "resource": "UniProtKB", "type": "recommended" }, { "name": "Ar", "resource": "RefSeq", "type": "synonym" }, { "name": "Nr3c4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tfm", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P26149-1", "uniprot_ac": "P26149", "uniprot_id": "3BHS2_MOUSE", "refseq_ac": "NP_694873", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "3 beta-hydroxysteroid dehydrogenase 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; hydroxysteroid dehydrogenase-2, delta<5>-3-beta", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Progesterone reductase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b2", "resource": "UniProtKB", "type": "recommended" }, { "name": "3-beta-HSD II", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O35660-1", "uniprot_ac": "O35660", "uniprot_id": "GSTM6_MOUSE", "refseq_ac": "NP_032210", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 6", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-mu 6; glutathione-S-transferase class M5; glutathione S-transferase Mu 6", "resource": "RefSeq", "type": "synonym" }, { "name": "GST class-mu 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glutathione-S-transferase class M5", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase Mu 6 isoform 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gstm6", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gstm5", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gstm6", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "E9Q007-1", "uniprot_ac": "E9Q007", "uniprot_id": "E9Q007_MOUSE", "refseq_ac": "NP_001357799", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9", "resource": "UniProtKB", "type": "synonym" }, { "name": "NADPH-dependent 3-keto-steroid reductase Hsd3b4", "resource": "RefSeq", "type": "synonym" }, { "name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase-like", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b9", "resource": "UniProtKB", "type": "recommended" }, { "name": "100043461; Gm4450", "resource": "RefSeq", "type": "synonym" }, { "name": "Gm4450", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hsd3b9", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P19639-1", "uniprot_ac": "P19639", "uniprot_id": "GSTM3_MOUSE", "refseq_ac": "NP_034489", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-mu 3; glutathione S-transferase GT9.3", "resource": "RefSeq", "type": "synonym" }, { "name": "GST class-mu 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glutathione S-transferase GT9.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase Mu 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gstm3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fsc2; mGSTM5", "resource": "RefSeq", "type": "synonym" }, { "name": "Gstm3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q61694-1", "uniprot_ac": "Q61694", "uniprot_id": "3BHS5_MOUSE", "refseq_ac": "NP_032321", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADPH-dependent 3-keto-steroid reductase Hsd3b5", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.1.1.210", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.270", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-HSD V", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase type 5; 3-beta-HSD V; progesterone reductase; 3 beta-hydroxysteroid dehydrogenase type V; 3-beta-hydroxy-5-ene steroid dehydrogenase; NADPH-dependent 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; hydroxysteroid dehydrogenase-5, delta<5>-3-beta; 3(beta)HSDV; dihydrotestosterone 3-ketoreductase", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase type 5", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase type V", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dihydrotestosterone 3-ketoreductase", "resource": "UniProtKB", "type": "synonym" }, { "name": "NADPH-dependent 3-keto-steroid reductase Hsd3b5", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b5", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b5", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P26150-1", "uniprot_ac": "P26150", "uniprot_id": "3BHS3_MOUSE", "refseq_ac": "NP_001155214", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type III", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD III; 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase type 3; steroid delta-isomerase; delta-5-3-ketosteroid isomerase; progesterone reductase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3 beta-hydroxysteroid dehydrogenase 3; hydroxysteroid dehydrogenase-2, delta<5>-3-beta; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type III", "resource": "RefSeq", "type": "synonym" }, { "name": "3-beta-HSD III", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Progesterone reductase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b3", "resource": "UniProtKB", "type": "recommended" }, { "name": "9030618K22Rik", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q61767-1", "uniprot_ac": "Q61767", "uniprot_id": "3BHS4_MOUSE", "refseq_ac": "NP_001104806", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADPH-dependent 3-keto-steroid reductase Hsd3b4", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.1.1.210", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.270", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-HSD IV", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase 4; 3 beta-hydroxysteroid dehydrogenase type 4; 3-beta-HSD IV; progesterone reductase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3 beta-hydroxysteroid dehydrogenase type IV; NADPH-dependent 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase; hydroxysteroid dehydrogenase-4, delta<5>-3-beta; dihydrotestosterone 3-ketoreductase", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase type 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase type IV", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dihydrotestosterone 3-ketoreductase", "resource": "UniProtKB", "type": "synonym" }, { "name": "NADPH-dependent 3-keto-steroid reductase Hsd3b4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b4", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b4", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P10649-1", "uniprot_ac": "P10649", "uniprot_id": "GSTM1_MOUSE", "refseq_ac": "NP_034488", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST 1-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-mu 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glutathione S-transferase GT8.7", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase Mu 1 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "pmGT10; GST 1-1; GST class-mu 1; glutathione S-transferase GT8.7", "resource": "RefSeq", "type": "synonym" }, { "name": "pmGT10", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Gstm1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gstb-1; Gstb1", "resource": "RefSeq", "type": "synonym" }, { "name": "Gstm1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P15626-1", "uniprot_ac": "P15626", "uniprot_id": "GSTM2_MOUSE", "refseq_ac": "NP_032209", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST 5-5; GST class-mu 2; glutathione S-transferase pmGT2", "resource": "RefSeq", "type": "synonym" }, { "name": "GST 5-5", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-mu 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glutathione S-transferase pmGT2", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase Mu 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gstm2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gstb-2; Gstb2", "resource": "RefSeq", "type": "synonym" }, { "name": "Gstm2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O35469-1", "uniprot_ac": "O35469", "uniprot_id": "3BHS6_MOUSE", "refseq_ac": "NP_038849", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.1.1.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type VI", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD VI; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type VI; hydroxysteroid dehydrogenase-6, delta<5>-3-beta; 3beta-HSD VI; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 pseudogene", "resource": "RefSeq", "type": "synonym" }, { "name": "3-beta-HSD VI", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Progesterone reductase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b6", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b6", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P24815-1", "uniprot_ac": "P24815", "uniprot_id": "3BHS1_MOUSE", "refseq_ac": "NP_001291729", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.1.1.145", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.210", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.270", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD I", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-Delta(5)-steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxysteroid 3-dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "5.3.3.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dihydrotestosterone oxidoreductase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Steroid Delta-isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "steroid Delta-isomerase; delta-5-3-ketosteroid isomerase; dihydrotestosterone oxidoreductase; 3-beta-hydroxysteroid 3-dehydrogenase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3-beta-HSD I; D3Ertd383e", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b1", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P0C6A2-1", "uniprot_ac": "P0C6A2", "uniprot_id": "MAMD1_MOUSE", "refseq_ac": "NP_001074823", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mastermind-like domain-containing protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "mastermind-like domain-containing protein 1 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "mastermind-like domain-containing protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mamld1", "resource": "UniProtKB", "type": "recommended" }, { "name": "G630014P10Rik", "resource": "RefSeq", "type": "synonym" }, { "name": "Mamld1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q99N99-1", "uniprot_ac": "Q99N99", "uniprot_id": "S5A2_MOUSE", "refseq_ac": "NP_444418", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.3.1.22", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "RefSeq", "type": "synonym" }, { "name": "5 alpha-SR2", "resource": "UniProtKB", "type": "synonym" }, { "name": "S5AR 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "SR type 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "steroid 5 alpha reductase type2; SR type 2; 5 alpha-SR2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Srd5a2", "resource": "UniProtKB", "type": "recommended" }, { "name": "5ART2; S5AR 2", "resource": "RefSeq", "type": "synonym" }, { "name": "5art2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Srd5a2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q61602-1", "uniprot_ac": "Q61602", "uniprot_id": "GLI3_MOUSE", "refseq_ac": "NP_032156", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcriptional activator GLI3", "resource": "UniProtKB", "type": "recommended" }, { "name": "GLI3 C-terminally truncated form", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 form of 190 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 form of 83 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 full-length protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3-190", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3-83", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3FL", "resource": "UniProtKB", "type": "synonym" }, { "name": "transcriptional activator GLI3", "resource": "RefSeq", "type": "synonym" }, { "name": "zinc finger protein GLI3; GLI3 form of 190 kDa; GLI3 full length protein; extra toes; brachyphalangy; polydactyly Nagoya; anterior digit pattern deformity", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gli3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gli3", "resource": "RefSeq", "type": "synonym" }, { "name": "add; Bph; GLI3-190; GLI3FL; Pdn; Xt", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P21803-1", "uniprot_ac": "P21803", "uniprot_id": "FGFR2_MOUSE", "refseq_ac": "NP_034337", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "KGFR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Keratinocyte growth factor receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor receptor 2 isoform IIIc precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "keratinocyte growth factor receptor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fgfr2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Bek; Fgfr-2; Fgfr-7; Fgfr2b; Fgfr7; KGFR; KGFRTr; svs", "resource": "RefSeq", "type": "synonym" }, { "name": "Bek", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ect1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fgfr2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P01101-1", "uniprot_ac": "P01101", "uniprot_id": "FOS_MOUSE", "refseq_ac": "NP_034364", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein c-Fos", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cellular oncogene fos", "resource": "UniProtKB", "type": "synonym" }, { "name": "FBJ osteosarcoma oncogene", "resource": "UniProtKB", "type": "synonym" }, { "name": "Transcription factor AP-1 subunit c-Fos", "resource": "UniProtKB", "type": "synonym" }, { "name": "protein c-Fos", "resource": "RefSeq", "type": "synonym" }, { "name": "proto-oncogene protein c-fos; proto-oncogene c-Fos; cellular oncogene fos; transcription factor AP-1 subunit c-Fos", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fos", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fos", "resource": "RefSeq", "type": "synonym" }, { "name": "c-fos; cFos; D12Rfj1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q62424-1", "uniprot_ac": "Q62424", "uniprot_id": "HXA13_MOUSE", "refseq_ac": "NP_032290", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Homeobox protein Hox-A13", "resource": "UniProtKB", "type": "recommended" }, { "name": "Homeobox protein Hox-1.10", "resource": "UniProtKB", "type": "synonym" }, { "name": "homeobox protein Hox-1.10; hypodactyly", "resource": "RefSeq", "type": "synonym" }, { "name": "homeobox protein Hox-A13", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hoxa13", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hd; Hox-1.10", "resource": "RefSeq", "type": "synonym" }, { "name": "Hox-1.10", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hoxa13", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O35565-1", "uniprot_ac": "O35565", "uniprot_id": "FGF10_MOUSE", "refseq_ac": "NP_032028", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor 10", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF-10", "resource": "UniProtKB", "type": "synonym" }, { "name": "Keratinocyte growth factor 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 10 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "keratinocyte growth factor 2; 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VD3 1A hydroxylase; 1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; calcidiol 1-monooxygenase; cytochrome p450 27B1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1", "resource": "RefSeq", "type": "synonym" }, { "name": "25-OHD-1 alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym" }, { "name": "25-hydroxyvitamin D(3) 1-alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym" }, { "name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "resource": "RefSeq", "type": "synonym" }, { "name": "Calcidiol 1-monooxygenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450 subfamily XXVIIB polypeptide 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450C1 alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450VD1-alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome p450 27B1", "resource": "UniProtKB", "type": "synonym" }, { "name": "VD3 1A hydroxylase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "CYP27B1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CP2B; 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casein kinase 2, alpha 3 polypeptide; CK II alpha 3; casein kinase II alpha 1 polypeptide pseudogene", "resource": "RefSeq", "type": "synonym" }, { "name": "casein kinase II subunit alpha 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CSNK2A3", "resource": "UniProtKB", "type": "recommended" }, { "name": "CSNK2A1P", "resource": "RefSeq", "type": "synonym" }, { "name": "CSNK2A1P", "resource": "UniProtKB", "type": "synonym" }, { "name": "CSNK2A3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P35663-1", "uniprot_ac": "P35663", "uniprot_id": "CYLC1_HUMAN", "refseq_ac": "NP_066941", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cylicin-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cylicin I", "resource": "UniProtKB", "type": "synonym" }, { "name": "Multiple-band polypeptide I", "resource": "UniProtKB", "type": "synonym" }, { "name": "cylicin I; multiple-band polypeptide I; cylicin, basic protein of sperm head cytoskeleton 1", "resource": "RefSeq", "type": "synonym" }, { "name": "cylicin-1 isoform 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CYLC1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CYCL1; SPGFX8", "resource": "RefSeq", "type": "synonym" }, { "name": "CYL1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CYLC1", "resource": "RefSeq", "type": "synonym" }, { "name": "CYL", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q01524-1", "uniprot_ac": "Q01524", "uniprot_id": "DEF6_HUMAN", "refseq_ac": "NP_001917", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Defensin-6", "resource": "UniProtKB", "type": "recommended" }, { "name": "Defensin, alpha 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "defensin-6 preproprotein", "resource": "RefSeq", "type": "synonym" }, { "name": "defensin-6; defensin, alpha 6, Paneth cell-specific", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DEFA6", "resource": "UniProtKB", "type": "recommended" }, { "name": "DEF6; HD-6", "resource": "RefSeq", "type": "synonym" }, { "name": "DEF6", "resource": "UniProtKB", "type": "synonym" }, { "name": "DEFA6", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O75618-1", "uniprot_ac": "O75618", "uniprot_id": "DEDD_HUMAN", "refseq_ac": "NP_001034800", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Death effector domain-containing protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "DEDPro1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Death effector domain-containing testicular molecule", "resource": "UniProtKB", "type": "synonym" }, { "name": "FLDED-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "death effector domain-containing protein isoform b", "resource": "RefSeq", "type": "synonym" }, { "name": "death effector domain-containing protein; death effector domain-containing testicular molecule", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DEDD", "resource": "UniProtKB", "type": "recommended" }, { "name": "CASP8IP1; DEDD1; DEDPro1; DEFT; FLDED-1; FLDED1; KE05", "resource": "RefSeq", "type": "synonym" }, { "name": "DEDD", "resource": "RefSeq", "type": "synonym" }, { "name": "DEDPRO1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DEFT", "resource": "UniProtKB", "type": "synonym" }, { "name": "KE05", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_20845", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P01100-1", "uniprot_ac": "P01100", "uniprot_id": "FOS_HUMAN", "refseq_ac": "NP_005243", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein c-Fos", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cellular oncogene fos", "resource": "UniProtKB", "type": "synonym" }, { "name": "FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS); proto-oncogene c-Fos; activator protein 1; cellular oncogene c-fos; G0/G1 switch regulatory protein 7; FBJ murine osteosarcoma viral oncogene homolog; Fos proto-oncogene, AP-1 trancription factor subunit; transcription factor AP-1 subunit c-Fos", "resource": "RefSeq", "type": "synonym" }, { "name": "Fos proto-oncogene, AP-1 transcription factor subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "G0/G1 switch regulatory protein 7", "resource": "UniProtKB", "type": "synonym" }, { "name": "Proto-oncogene c-Fos", "resource": "UniProtKB", "type": "synonym" }, { "name": "Transcription factor AP-1 subunit c-Fos", "resource": "UniProtKB", "type": "synonym" }, { "name": "protein c-Fos", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FOS", "resource": "UniProtKB", "type": "recommended" }, { "name": "AP-1; C-FOS; p55", "resource": "RefSeq", "type": "synonym" }, { "name": "FOS", "resource": "RefSeq", "type": "synonym" }, { "name": "G0S7", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P10275-1", "uniprot_ac": "P10275", "uniprot_id": "ANDR_HUMAN", "refseq_ac": "NP_000035", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Androgen receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dihydrotestosterone receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group C member 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "androgen receptor isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "dihydrotestosterone receptor; nuclear receptor subfamily 3 group C member 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "AR", "resource": "UniProtKB", "type": "recommended" }, { "name": "AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM", "resource": "RefSeq", "type": "synonym" }, { "name": "AR", "resource": "RefSeq", "type": "synonym" }, { "name": "DHTR", "resource": "UniProtKB", "type": "synonym" }, { "name": "NR3C4", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" }, { "id": "300633", "database": "MIM", "url": "https://www.omim.org/entry/300633" } ] }, { "uniprot_canonical_ac": "P10071-1", "uniprot_ac": "P10071", "uniprot_id": "GLI3_HUMAN", "refseq_ac": "NP_000159", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcriptional activator GLI3", "resource": "UniProtKB", "type": "recommended" }, { "name": "GLI3 C-terminally truncated form", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 form of 190 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 form of 83 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3 full-length protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3-190", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3-83", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI3FL", "resource": "UniProtKB", "type": "synonym" }, { "name": "transcriptional activator GLI3", "resource": "RefSeq", "type": "synonym" }, { "name": "zinc finger protein GLI3; glioma-associated oncogene family zinc finger 3; GLI-Kruppel family member GLI3; oncogene GLI3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "GLI3", "resource": "UniProtKB", "type": "recommended" }, { "name": "ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV", "resource": "RefSeq", "type": "synonym" }, { "name": "GLI3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P21802-1", "uniprot_ac": "P21802", "uniprot_id": "FGFR2_HUMAN", "refseq_ac": "NP_000132", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "K-sam", "resource": "UniProtKB", "type": "synonym" }, { "name": "KGFR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Keratinocyte growth factor receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor receptor 2 isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "protein tyrosine kinase, receptor like 14; bacteria-expressed kinase; keratinocyte growth factor receptor; BEK fibroblast growth factor receptor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FGFR2", "resource": "UniProtKB", "type": "recommended" }, { "name": "BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25", "resource": "RefSeq", "type": "synonym" }, { "name": "BEK", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR2", "resource": "RefSeq", "type": "synonym" }, { "name": "KGFR", "resource": "UniProtKB", "type": "synonym" }, { "name": "KSAM", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_1811153", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P31271-1", "uniprot_ac": "P31271", "uniprot_id": "HXA13_HUMAN", "refseq_ac": "NP_000513", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Homeobox protein Hox-A13", "resource": "UniProtKB", "type": "recommended" }, { "name": "Homeobox protein Hox-1J", "resource": "UniProtKB", "type": "synonym" }, { "name": "homeo box A13; homeo box 1J; transcription factor HOXA13; homeobox protein HOXA13; homeobox protein Hox-1J", "resource": "RefSeq", "type": "synonym" }, { "name": "homeobox protein Hox-A13", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "HOXA13", "resource": "UniProtKB", "type": "recommended" }, { "name": "HOX1; HOX1J", "resource": "RefSeq", "type": "synonym" }, { "name": "HOX1J", "resource": "UniProtKB", "type": "synonym" }, { "name": "HOXA13", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "O15520-1", "uniprot_ac": "O15520", "uniprot_id": "FGF10_HUMAN", "refseq_ac": "NP_004456", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor 10", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF-10", "resource": "UniProtKB", "type": "synonym" }, { "name": "Keratinocyte growth factor 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 10 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "keratinocyte growth factor 2; produced by fibroblasts of urinary bladder lamina propria; FGF-10", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FGF10", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF10", "resource": "RefSeq", "type": "synonym" }, { "name": "LADD3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P35453-1", "uniprot_ac": "P35453", "uniprot_id": "HXD13_HUMAN", "refseq_ac": "NP_000514", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Homeobox protein Hox-D13", "resource": "UniProtKB", "type": "recommended" }, { "name": "Homeobox protein Hox-4I", "resource": "UniProtKB", "type": "synonym" }, { "name": "homeo box D13; homeo box 4I; homeobox protein Hox-4I; synpolydactyly", "resource": "RefSeq", "type": "synonym" }, { "name": "homeobox protein Hox-D13", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "HOXD13", "resource": "UniProtKB", "type": "recommended" }, { "name": "BDE; BDSD; HOX4I; SPD; SPD1", "resource": "RefSeq", "type": "synonym" }, { "name": "HOX4I", "resource": "UniProtKB", "type": "synonym" }, { "name": "HOXD13", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P55075-1", "uniprot_ac": "P55075", "uniprot_id": "FGF8_HUMAN", "refseq_ac": "NP_006110", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor 8", "resource": "UniProtKB", "type": "recommended" }, { "name": "AIGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Androgen-induced growth factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGF-8", "resource": "UniProtKB", "type": "synonym" }, { "name": "HBGF-8", "resource": "UniProtKB", "type": "synonym" }, { "name": "Heparin-binding growth factor 8", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 8 isoform B precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "heparin-binding growth factor 8; fibroblast growth factor 8 (androgen-induced); androgen-induced growth factor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FGF8", "resource": "UniProtKB", "type": "recommended" }, { "name": "AIGF; FGF-8; HBGF-8; HH6; KAL6", "resource": "RefSeq", "type": "synonym" }, { "name": "AIGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGF8", "resource": "RefSeq", "type": "synonym" }, { "name": "hCG_25633", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P02775-1", "uniprot_ac": "P02775", "uniprot_id": "CXCL7_HUMAN", "refseq_ac": "NP_002695", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Platelet basic protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "C-X-C motif chemokine 7", "resource": "UniProtKB", "type": "synonym" }, { "name": "LA-PF4", "resource": "UniProtKB", "type": "synonym" }, { "name": "LDGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Leukocyte-derived growth factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Low-affinity platelet factor IV", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Macrophage-derived growth factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "PBP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Small-inducible cytokine B7", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-thromboglobulin; CXC chemokine ligand 7; small inducible cytokine subfamily B, member 7; thromboglobulin, beta-1; thrombocidin 1; thrombocidin 2; small inducible cytokine B7; low-affinity platelet factor IV; connective tissue-activating peptide III; neutrophil-activating peptide 2; leukocyte-derived growth factor; macrophage-derived growth factor; chemokine (C-X-C motif) ligand 7; platelet basic protein; C-X-C motif chemokine 7", "resource": "RefSeq", "type": "synonym" }, { "name": "platelet basic protein preproprotein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "PPBP", "resource": "UniProtKB", "type": "recommended" }, { "name": "B-TG1; Beta-TG; CTAP-III; CTAP3; CTAPIII; CXCL7; LA-PF4; LDGF; MDGF; NAP-2; PBP; SCYB7; TC1; TC2; TGB; TGB1; THBGB; THBGB1", "resource": "RefSeq", "type": "synonym" }, { "name": "CTAP3", "resource": "UniProtKB", "type": "synonym" }, { "name": "CXCL7", "resource": "UniProtKB", "type": "synonym" }, { "name": "PPBP", "resource": "RefSeq", "type": "synonym" }, { "name": "SCYB7", "resource": "UniProtKB", "type": "synonym" }, { "name": "TGB1", "resource": "UniProtKB", "type": "synonym" }, { "name": "THBGB1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P31213-1", "uniprot_ac": "P31213", "uniprot_id": "S5A2_HUMAN", "refseq_ac": "NP_000339", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.3.1.22", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "RefSeq", "type": "synonym" }, { "name": "5 alpha-SR2", "resource": "UniProtKB", "type": "synonym" }, { "name": "S5AR 2; SR type 2; 5 alpha-SR2; type II 5-alpha reductase; steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)", "resource": "RefSeq", "type": "synonym" }, { "name": "S5AR 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "SR type 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Type II 5-alpha reductase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "SRD5A2", "resource": "UniProtKB", "type": "recommended" }, { "name": "SRD5A2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q13495-1", "uniprot_ac": "Q13495", "uniprot_id": "MAMD1_HUMAN", "refseq_ac": "NP_001170936", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mastermind-like domain-containing protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "F18", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein CG1", "resource": "UniProtKB", "type": "synonym" }, { "name": "mastermind-like domain-containing protein 1 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "mastermind-like domain-containing protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "MAMLD1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG1; CXorf6; F18; HYSP2", "resource": "RefSeq", "type": "synonym" }, { "name": "CG1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CXorf6", "resource": "UniProtKB", "type": "synonym" }, { "name": "MAMLD1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" }, { "id": "300758", "database": "MIM", "url": "https://www.omim.org/entry/300758" } ] }, { "uniprot_canonical_ac": "P26439-1", "uniprot_ac": "P26439", "uniprot_id": "3BHS2_HUMAN", "refseq_ac": "NP_000189", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD adrenal and gonadal type", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Progesterone reductase", "resource": "UniProtKB", "type": "synonym" }, { "name": "short chain dehydrogenase/reductase family 11E, member 2; 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S-(hydroxyalkyl)glutathione lyase; GST class-mu 1; glutathione S-alkyltransferase; glutathione S-aryltransferase; glutathione S-aralkyltransferase; HB subunit 4; GST HB subunit 4", "resource": "RefSeq", "type": "synonym" }, { "name": "glutathione S-transferase Mu 1 isoform 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "GSTM1", "resource": "UniProtKB", "type": "recommended" }, { "name": "GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4; GTM1; H-B; MU; MU-1", "resource": "RefSeq", "type": "synonym" }, { "name": "GST1", "resource": "UniProtKB", "type": "synonym" }, { "name": "GSTM1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P30711-1", "uniprot_ac": "P30711", "uniprot_id": "GSTT1_HUMAN", "refseq_ac": "NP_000844", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST class-theta-1; 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v-fos FBJ murine osteosarcoma viral oncogene homolog; proto-oncogene c-FOS; proto-oncogene cFOS; FBJ osteosarcoma oncogene", "resource": "RefSeq", "type": "synonym" }, { "name": "protein c-Fos", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fos", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fos", "resource": "RefSeq", "type": "synonym" }, { "name": "c-fos", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "F1LSG7-1", "uniprot_ac": "F1LSG7", "uniprot_id": "F1LSG7_RAT", "refseq_ac": "NP_036844", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor receptor 2 isoform a precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fgfr2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fgfr2", "resource": "RefSeq", "type": "synonym" }, { "name": "KGFR", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "F1M9H1-1", "uniprot_ac": "F1M9H1", "uniprot_id": "F1M9H1_RAT", "refseq_ac": "NP_536330", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GLI family zinc finger 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)", "resource": "RefSeq", "type": "synonym" }, { "name": "transcriptional activator GLI3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gli3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gli3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P00185-1", "uniprot_ac": "P00185", "uniprot_id": "CP1A1_RAT", "refseq_ac": "NP_036672", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytochrome P450 1A1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.14.14.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "4.2.1.152", "resource": "UniProtKB", "type": "synonym" }, { "name": "CYP1A1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CYPIA1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450 form 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450-C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450-P1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytochrome P450MT2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hydroperoxy icosatetraenoate dehydratase", "resource": "UniProtKB", "type": "synonym" }, { "name": "cytochrome P450 1A1", "resource": "RefSeq", "type": "synonym" }, { "name": "cytochrome P450, subfamily I (aromatic compound-inducible), member A1 (C6, form c) (C6, form c); 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estrogen receptor 2 beta; estrogen receptor 2 (ER beta)", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Esr2", "resource": "UniProtKB", "type": "recommended" }, { "name": "ER-beta; Erb2; ERbeta", "resource": "RefSeq", "type": "synonym" }, { "name": "Erbeta", "resource": "UniProtKB", "type": "synonym" }, { "name": "Esr2", "resource": "RefSeq", "type": "synonym" }, { "name": "Nr3a2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P15207-1", "uniprot_ac": "P15207", "uniprot_id": "ANDR_RAT", "refseq_ac": "NP_036634", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Androgen receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dihydrotestosterone receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group C member 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "androgen receptor (Testicular feminization), same as Tfm; dihydrotestosterone receptor; nuclear receptor subfamily 3 group C member 4", "resource": "RefSeq", "type": "synonym" }, { "name": "androgen receptor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ar", "resource": "UniProtKB", "type": "recommended" }, { "name": "Andr; Tfm", "resource": "RefSeq", "type": "synonym" }, { "name": "Ar", "resource": "RefSeq", "type": "synonym" }, { "name": "Nr3c4", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q01579-1", "uniprot_ac": "Q01579", "uniprot_id": "GSTT1_RAT", "refseq_ac": "NP_445745", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutathione S-transferase theta-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST 5-5; 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Hsd3b; RATHSDI", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b5", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b", "resource": "UniProtKB", "type": "synonym" }, { "name": "LOC100911116", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P22072-1", "uniprot_ac": "P22072", "uniprot_id": "3BHS2_RAT", "refseq_ac": "NP_001036084", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3 beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase type II; 3 beta-hydroxysteroid dehydrogenase/delta-5-delta-4 isomerase type 3", "resource": "RefSeq", "type": "synonym" }, { "name": "3-beta-HSD II", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Progesterone reductase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b3", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P22071-1", "uniprot_ac": "P22071", "uniprot_id": "3BHS1_RAT", "refseq_ac": "NP_001007720", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.1.1.145", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.210", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.1.1.270", "resource": "UniProtKB", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase 1; 3-beta-HSD I; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; hydroxysteroid dehydrogenase-1, delta<5>-3-beta; 3betaHSD; steroid Delta-isomerase; delta-5-3-ketosteroid isomerase; dihydrotestosterone oxidoreductase; 3-beta-hydroxysteroid 3-dehydrogenase; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1", "resource": "RefSeq", "type": "synonym" }, { "name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-HSD I", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-5-ene steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxy-Delta(5)-steroid dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-beta-hydroxysteroid 3-dehydrogenase", "resource": "UniProtKB", "type": "synonym" }, { "name": "5.3.3.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Delta-5-3-ketosteroid isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dihydrotestosterone oxidoreductase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Steroid Delta-isomerase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hsd3b1", "resource": "RefSeq", "type": "synonym" }, { "name": "Hsd3b1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hsd3b3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P08010-1", "uniprot_ac": "P08010", "uniprot_id": "GSTM2_RAT", "refseq_ac": "NP_803175", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutathione S-transferase Mu 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.18", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST 4-4", "resource": "UniProtKB", "type": "synonym" }, { "name": "GST Yb2", "resource": "UniProtKB", "type": "synonym" }, { "name": "GSTM2-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glutathione S-transferase Yb-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "glutathione S-transferase Mu 2", "resource": "RefSeq", "type": "synonym" }, { "name": "glutathione S-transferase Yb2 subunit; GST 4-4; GST Yb2; GSTM2-2; glutathione S-transferase Yb-2; Glutathione-S-transferase, mu type 2 (Yb2); glutathione S-transferase M2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gstm2", "resource": "UniProtKB", "type": "recommended" }, { "name": "GSTA4", "resource": "RefSeq", "type": "synonym" }, { "name": "Gstm2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "A0A140TAJ4-1", "uniprot_ac": "A0A140TAJ4", "uniprot_id": "A0A140TAJ4_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5, pseudogene 1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hsd3b5-ps1", "resource": "UniProtKB", "type": "recommended" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P31214-1", "uniprot_ac": "P31214", "uniprot_id": "S5A2_RAT", "refseq_ac": "NP_073202", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.3.1.22", "resource": "UniProtKB", "type": "synonym" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "resource": "RefSeq", "type": "synonym" }, { "name": "5 alpha-SR2", "resource": "UniProtKB", "type": "synonym" }, { "name": "S5AR 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "SR type 2; 5 alpha-SR2; steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)", "resource": "RefSeq", "type": "synonym" }, { "name": "SR type 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Steroid 5-alpha-reductase 2", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Srd5a2", "resource": "UniProtKB", "type": "recommended" }, { "name": "S5AR 2", "resource": "RefSeq", "type": "synonym" }, { "name": "Srd5a2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q64725-1", "uniprot_ac": "Q64725", "uniprot_id": "KSYK_RAT", "refseq_ac": "NP_036890", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase SYK", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Spleen tyrosine kinase", "resource": "UniProtKB", "type": "synonym" }, { "name": "p72Syk", "resource": "UniProtKB", "type": "synonym" }, { "name": "spleen tyrosine kinase", "resource": "RefSeq", "type": "synonym" }, { "name": "tyrosine-protein kinase SYK", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Syk", "resource": "UniProtKB", "type": "recommended" }, { "name": "Syk", "resource": "RefSeq", "type": "synonym" }, { "name": "p72syk", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "Q62668-1", "uniprot_ac": "Q62668", "uniprot_id": "UT2_RAT", "refseq_ac": "NP_001103740", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Urea transporter 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Solute carrier family 14 member 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Urea transporter, kidney", "resource": "UniProtKB", "type": "synonym" }, { "name": "urea transporter 2 isoform 3", "resource": "RefSeq", "type": "synonym" }, { "name": "urea transporter, kidney; urea transporter 2; urea transport protein; plasma membrane urea transporter; testName; solute carrier family 14 (urea transporter), member 2T; urea transporter UT-A2c; urea transporter UT-A2d", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Slc14a2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Slc14a2T; Slc14a2_v4; testSymbol; UrT1-C; UrT1-D", "resource": "RefSeq", "type": "synonym" }, { "name": "Slc14a2", "resource": "RefSeq", "type": "synonym" }, { "name": "Ut2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P11685-1", "uniprot_ac": "P11685", "uniprot_id": "PSPC_RAT", "refseq_ac": "NP_059038", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Surfactant protein C", "resource": "UniProtKB", "type": "recommended" }, { "name": "Pulmonary surfactant-associated protein C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Pulmonary surfactant-associated proteolipid SPL(Val)", "resource": "UniProtKB", "type": "synonym" }, { "name": "SP-C", "resource": "UniProtKB", "type": "synonym" }, { "name": "pulmonary surfactant-associated protein C; pulmonary surfactant-associated proteolipid SPL(Val); surfactant associated protein C; Surfactant, pulmonary-associated protein C", "resource": "RefSeq", "type": "synonym" }, { "name": "surfactant protein C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Sftpc", "resource": "UniProtKB", "type": "recommended" }, { "name": "SP-C", "resource": "RefSeq", "type": "synonym" }, { "name": "Sftp2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Sftpc", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P55018-1", "uniprot_ac": "P55018", "uniprot_id": "S12A3_RAT", "refseq_ac": "NP_062218", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Solute carrier family 12 member 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Na-Cl symporter", "resource": "UniProtKB", "type": "synonym" }, { "name": "Thiazide-sensitive sodium-chloride cotransporter", "resource": "UniProtKB", "type": "synonym" }, { "name": "solute carrier family 12 member 3", "resource": "RefSeq", "type": "synonym" }, { "name": "thiazide-sensitive sodium-chloride cotransporter; Na-Cl symporter; thiazide-sensitive Na-Cl cotransporter; solute carrier family 12 (sodium/chloride transporters), member 3; solute carrier family 12 (sodium/chloride transporter), member 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Slc12a3", "resource": "UniProtKB", "type": "recommended" }, { "name": "NCC; TSC", "resource": "RefSeq", "type": "synonym" }, { "name": "Slc12a3", "resource": "RefSeq", "type": "synonym" }, { "name": "Tsc", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] }, { "uniprot_canonical_ac": "P19112-1", "uniprot_ac": "P19112", "uniprot_id": "F16P1_RAT", "refseq_ac": "NP_036690", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fructose-1,6-bisphosphatase 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.1.3.11", "resource": "UniProtKB", "type": "synonym" }, { "name": "D-fructose-1,6-bisphosphate 1-phosphohydrolase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FBPase 1; D-fructose-1,6-bisphosphate 1-phosphohydrolase 1; fructose-1,6- biphosphatase 1; Fructose-16- biphosphatase; liver FBPase", "resource": "RefSeq", "type": "synonym" }, { "name": "FBPase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Liver FBPase", "resource": "UniProtKB", "type": "synonym" }, { "name": "fructose-1,6-bisphosphatase 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fbp1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fbp1", "resource": "RefSeq", "type": "synonym" }, { "name": "Fbp", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fdp", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "10892", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.10892" }