{ "disease_id": "DOID:0060643", "recommended_name": { "id": "DOID:0060643", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension." }, "synonyms": [ { "id": "MONDO:0013433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013433", "name": "primary sclerosing cholangitis", "description": "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." }, { "id": "MONDO:0013433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013433", "name": "PSC", "description": "" }, { "id": "MONDO:0013433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013433", "name": "cholangitis, primary sclerosing", "description": "" } ], "children": [], "id_list": [ "DOID:0060643" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060643", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060643", "categories": [] }, { "id": "MONDO:0013433", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013433", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q7KTL9-1", "uniprot_ac": "Q7KTL9", "uniprot_id": "Q7KTL9_DROME", "refseq_ac": "NP_995639", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Adipokinetic hormone receptor, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG11325-PC; AkhR-PC; gonadotropin-releasing hormone receptor; adipokinetic hormone receptor; Drm-AKH receptor-1; gonadotrophin-releasing hormone receptor", "resource": "RefSeq", "type": "synonym" }, { "name": "adipokinetic hormone receptor, isoform C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "AkhR", "resource": "UniProtKB", "type": "recommended" }, { "name": "AKH R; Akh-R; AKH-R; akhr; akhR; Akhr; AKHR; Akhr/GRHR; AkhR/GRHR; BEST:GH19447; CG11325; DAKHR; DAKHR-1; DGRHR; Dmel\\CG11325; GnRHR; GRHR; GRHR/CG11325", "resource": "RefSeq", "type": "synonym" }, { "name": "AKH R", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKH-R", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKHR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Akh-R", "resource": "UniProtKB", "type": "synonym" }, { "name": "AkhR", "resource": "RefSeq", "type": "synonym" }, { "name": "Akhr", "resource": "UniProtKB", "type": "synonym" }, { "name": "BEST:GH19447", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG11325", "resource": "UniProtKB", "type": "synonym" }, { "name": "DAKHR-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DAKHR", "resource": "UniProtKB", "type": "synonym" }, { "name": "DGRHR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG11325", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG11325", "resource": "UniProtKB", "type": "synonym" }, { "name": "GRHR", "resource": "UniProtKB", "type": "synonym" }, { "name": "GnRHR", "resource": "UniProtKB", "type": "synonym" }, { "name": "akhR", "resource": "UniProtKB", "type": "synonym" }, { "name": "akhr", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q24143-1", "uniprot_ac": "Q24143", "uniprot_id": "HR96_DROME", "refseq_ac": "NP_524493", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Nuclear hormone receptor HR96", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11783-PA; Hr96-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "Nuclear receptor subfamily 1 group J member 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "dHR96", "resource": "UniProtKB", "type": "synonym" }, { "name": "hormone receptor-like in 96", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hr96", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11783; dHR96; Dhr96; DHR96; Dmel\\CG11783; HR96; NR1J1", "resource": "RefSeq", "type": "synonym" }, { "name": "CG11783", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hr96", "resource": "RefSeq", "type": "synonym" }, { "name": "NR1J1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q00449-1", "uniprot_ac": "Q00449", "uniprot_id": "MDR49_DROME", "refseq_ac": "NP_001163132", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Multidrug resistance protein homolog 49", "resource": "UniProtKB", "type": "recommended" }, { "name": "7.6.2.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG3879-PB; Mdr49-PB", "resource": "RefSeq", "type": "synonym" }, { "name": "P-glycoprotein 49", "resource": "UniProtKB", "type": "synonym" }, { "name": "multi drug resistance 49, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mdr49", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG3879; Dm5; Dmel\\CG3879; DmMdr49; mdr49; MDR49; MDR5; Mes5; mrd49", "resource": "RefSeq", "type": "synonym" }, { "name": "CG3879", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dm5", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG3879", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG3879", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDR49", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDR5", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mdr49", "resource": "RefSeq", "type": "synonym" }, { "name": "Mes5", "resource": "UniProtKB", "type": "synonym" }, { "name": "mdr49", "resource": "UniProtKB", "type": "synonym" }, { "name": "mrd49", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q00748-1", "uniprot_ac": "Q00748", "uniprot_id": "MDR65_DROME", "refseq_ac": "NP_476831", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Multidrug resistance protein homolog 65", "resource": "UniProtKB", "type": "recommended" }, { "name": "7.6.2.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG10181-PA; Mdr65-PA; P-glycoprotein65-Dm; MDR65; multiple drug resistance 65", "resource": "RefSeq", "type": "synonym" }, { "name": "P-glycoprotein 65", "resource": "UniProtKB", "type": "synonym" }, { "name": "multi drug resistance 65", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mdr65", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG10181; Dmel\\CG10181; DmMdr65; mdr65; MDR65; Mdr65A; P-glycoprotein; P-gp", "resource": "RefSeq", "type": "synonym" }, { "name": "CG10181", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mdr65", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q9VRW2-1", "uniprot_ac": "Q9VRW2", "uniprot_id": "Q9VRW2_DROME", "refseq_ac": "NP_648040", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10226-PA; ABC multidrug transporter", "resource": "RefSeq", "type": "synonym" }, { "name": "Uncharacterized protein, isoform A", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein, isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "AMT", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dmel\\CG10226", "resource": "UniProtKB", "type": "recommended" }, { "name": "AMT; DmCG10226; Dmel\\CG10226", "resource": "RefSeq", "type": "synonym" }, { "name": "AMT", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG10226", "resource": "RefSeq", "type": "synonym" }, { "name": "CG10226", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmCG10226", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG10226", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG10226", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q5BI62-1", "uniprot_ac": "Q5BI62", "uniprot_id": "Q5BI62_DROME", "refseq_ac": "NP_523740", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "3.6.1.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG8523-PA; Mdr50-PA; multi-drug resistance 50", "resource": "RefSeq", "type": "synonym" }, { "name": "LP14331p", "resource": "UniProtKB", "type": "synonym" }, { "name": "Multi drug resistance 50", "resource": "UniProtKB", "type": "synonym" }, { "name": "multi drug resistance 50", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mdr50", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG8523; Dm2; Dm3; Dmel\\CG8523; DmMdr50; mdr50; MDR50", "resource": "RefSeq", "type": "synonym" }, { "name": "CG8523", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dm2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dm3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG8523", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG8523", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDR50", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mdr50", "resource": "RefSeq", "type": "synonym" }, { "name": "mdr50", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P21440-1", "uniprot_ac": "P21440", "uniprot_id": "MDR3_MOUSE", "refseq_ac": "NP_032856", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidylcholine translocator ABCB4", "resource": "UniProtKB", "type": "recommended" }, { "name": "7.6.2.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "ATP-binding cassette sub-family B member 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Multidrug resistance protein 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Multidrug resistance protein 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "P glycoprotein 2; 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cAMP-dependent chloride channel; channel conductance-controlling ATPase; ATP-binding cassette transporter sub-family C member 7; ATP-binding cassette sub-family C member 7; cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7", "resource": "RefSeq", "type": "synonym" }, { "name": "CFTR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Channel conductance-controlling ATPase", "resource": "UniProtKB", "type": "synonym" }, { "name": "cAMP-dependent chloride channel", "resource": "UniProtKB", "type": "synonym" }, { "name": "cystic fibrosis transmembrane conductance regulator", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Cftr", "resource": "UniProtKB", "type": "recommended" }, { "name": "Abcc7", "resource": "RefSeq", "type": "synonym" }, { "name": "Abcc7", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cftr", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P01921-1", "uniprot_ac": "P01921", "uniprot_id": "HB2D_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "H-2 class II histocompatibility antigen, A-D beta chain", "resource": "UniProtKB", "type": "recommended" } ], "gene_names": [ { "name": "H2-Ab1", "resource": "UniProtKB", "type": "recommended" }, { "name": "H2-iabeta", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P49183-1", "uniprot_ac": "P49183", "uniprot_id": "DNAS1_MOUSE", "refseq_ac": "NP_034191", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Deoxyribonuclease-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.1.21.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DNase I", "resource": "UniProtKB", "type": "synonym" }, { "name": "Deoxyribonuclease I", "resource": "UniProtKB", "type": "synonym" }, { "name": "deoxyribonuclease-1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "deoxyribonuclease-1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Dnase1", "resource": "UniProtKB", "type": "recommended" }, { "name": "DNaseI; 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cell proliferation-inducing gene 46 protein; keratin 18, type I", "resource": "RefSeq", "type": "synonym" }, { "name": "keratin, type I cytoskeletal 18", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "KRT18", "resource": "UniProtKB", "type": "recommended" }, { "name": "CK-18; CYK18; K18", "resource": "RefSeq", "type": "synonym" }, { "name": "CYK18", "resource": "UniProtKB", "type": "synonym" }, { "name": "KRT18", "resource": "RefSeq", "type": "synonym" }, { "name": "PIG46", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P24855-1", "uniprot_ac": "P24855", "uniprot_id": "DNAS1_HUMAN", "refseq_ac": "NP_005214", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Deoxyribonuclease-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.1.21.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DNase I", "resource": "UniProtKB", "type": "synonym" }, { "name": "Deoxyribonuclease I", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dornase alfa; human urine deoxyribonuclease I; DNase I, lysosomal", "resource": "RefSeq", "type": "synonym" }, { "name": "deoxyribonuclease-1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DNASE1", "resource": "UniProtKB", "type": "recommended" }, { "name": "DNASE1", "resource": "RefSeq", "type": "synonym" }, { "name": "DNL1; DRNI", "resource": "RefSeq", "type": "synonym" }, { "name": "DNL1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DRNI", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P21439-1", "uniprot_ac": "P21439", "uniprot_id": "MDR3_HUMAN", "refseq_ac": "NP_000434", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylcholine translocator ABCB4", "resource": "UniProtKB", "type": "recommended" }, { "name": "7.6.2.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "ATP-binding cassette sub-family B member 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Multidrug resistance protein 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "P-glycoprotein 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "multiple drug resistance 3; P-glycoprotein-3/multiple drug resistance-3; multidrug resistance protein 3; P-glycoprotein 3; ATP-binding cassette sub-family B member 4; phosphatidylcholine translocator ABCB4; ATP-binding cassette, sub-family B (MDR/TAP), member 4", "resource": "RefSeq", "type": "synonym" }, { "name": "phosphatidylcholine translocator ABCB4 isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ABCB4", "resource": "UniProtKB", "type": "recommended" }, { "name": "ABC21; GBD1; ICP3; MDR2; MDR2/3; MDR3; PFIC-3; PGY3", "resource": "RefSeq", "type": "synonym" }, { "name": "ABCB4", "resource": "RefSeq", "type": "synonym" }, { "name": "MDR3", "resource": "UniProtKB", "type": "synonym" }, { "name": "PGY3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P01920-1", "uniprot_ac": "P01920", "uniprot_id": "DQB1_HUMAN", "refseq_ac": "NP_001230891", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain; MHC class II DQ beta chain; MHC class II antigen DQB1; MHC class II HLA-DQ beta glycoprotein; MHC class II antigen HLA-DQ-beta-1", "resource": "RefSeq", "type": "synonym" }, { "name": "MHC class II antigen DQB1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "HLA-DQB1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CELIAC1; HLA-DQB; IDDM1", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DQB1", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DQB", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P13569-1", "uniprot_ac": "P13569", "uniprot_id": "CFTR_HUMAN", "refseq_ac": "NP_000483", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cystic fibrosis transmembrane conductance regulator", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.6.1.6", "resource": "UniProtKB", "type": "synonym" }, { "name": "ATP-binding cassette sub-family C member 7", "resource": "UniProtKB", "type": "synonym" }, { "name": "CFTR", "resource": "UniProtKB", "type": "synonym" }, { "name": "Channel conductance-controlling ATPase", "resource": "UniProtKB", "type": "synonym" }, { "name": "cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); cystic fibrosis transmembrane conductance regulating", "resource": "RefSeq", "type": "synonym" }, { "name": "cAMP-dependent chloride channel", "resource": "UniProtKB", "type": "synonym" }, { "name": "cystic fibrosis transmembrane conductance regulator", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CFTR", "resource": "UniProtKB", "type": "recommended" }, { "name": "ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR", "resource": "RefSeq", "type": "synonym" }, { "name": "ABCC7", "resource": "UniProtKB", "type": "synonym" }, { "name": "CFTR", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q1LX78-1", "uniprot_ac": "Q1LX78", "uniprot_id": "CFTR_DANRE", "refseq_ac": "NP_001038348", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cystic fibrosis transmembrane conductance regulator", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.6.1.6", "resource": "UniProtKB", "type": "synonym" }, { "name": "ATP-binding cassette sub-family C member 7", "resource": "UniProtKB", "type": "synonym" }, { "name": "Channel conductance-controlling ATPase", "resource": "UniProtKB", "type": "synonym" }, { "name": "abcc7; cAMP-dependent chloride channel; channel conductance-controlling ATPase; ATP-binding cassette sub-family C member 7; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)", "resource": "RefSeq", "type": "synonym" }, { "name": "cAMP-dependent chloride channel", "resource": "UniProtKB", "type": "synonym" }, { "name": "cystic fibrosis transmembrane conductance regulator", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "cftr", "resource": "UniProtKB", "type": "recommended" }, { "name": "cftr", "resource": "RefSeq", "type": "synonym" }, { "name": "si:dkey-270i2.2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q1MTC8-1", "uniprot_ac": "Q1MTC8", "uniprot_id": "Q1MTC8_DANRE", "refseq_ac": "NP_571551", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MHC Brre-DAB4; major histocompatibility complex class II DA-beta-101; major histocompatibility complex class II DA-beta-201; major histocompatibility complex class II DA-beta-401; major histocompatibility complex class II DA-beta-402; major histocompatibility complex class II DA-beta-301; MHC class II antigen; major histocompatibility complex class II DEB; MHC Brre-DEB; Brre-DAB1*04", "resource": "RefSeq", "type": "synonym" }, { "name": "Major histocompatibility complex class II DAB gene", "resource": "UniProtKB", "type": "synonym" }, { "name": "Major histocompatibility complex class II DAB precursor", "resource": "UniProtKB", "type": "synonym" }, { "name": "major histocompatibility complex class II DAB precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "mhc2dab", "resource": "UniProtKB", "type": "recommended" }, { "name": "DAB1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DAB; DAB1; dab1*01; dab101; dab2*01; dab201; dab3*01; dab301; dab4*01; dab4*02; dab401; dab402; mhc2d8.37b3; mhc2deb; mhciidab; si:dkeyp-2h4.1; zgc:110349; zgc:123077; zgc:152682; zgc:158870", "resource": "RefSeq", "type": "synonym" }, { "name": "DAB", "resource": "UniProtKB", "type": "synonym" }, { "name": "DKEYP-2H4.1-001", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab1*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab101", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab2*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab201", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab3*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab301", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab4*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab4*02", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab401", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab402", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2d8.37b3", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2dab", "resource": "RefSeq", "type": "synonym" }, { "name": "mhc2deb", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhciidab", "resource": "UniProtKB", "type": "synonym" }, { "name": "si:dkeyp-2h4.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:110349", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:123077", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:152682", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:158870", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "A0A8M2B5P7-1", "uniprot_ac": "A0A8M2B5P7", "uniprot_id": "A0A8M2B5P7_DANRE", "refseq_ac": "XP_005159251", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Major histocompatibility complex class II DBB isoform X1", "resource": "UniProtKB", "type": "synonym" }, { "name": "major histocompatibility complex class II DBB isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "mhc2dbb", "resource": "UniProtKB", "type": "recommended" }, { "name": "DBB; 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beta chain; major histocompatibility complex class II integral membrane beta chain", "resource": "RefSeq", "type": "synonym" }, { "name": "Major histocompatibility complex class II DGB precursor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Si:busm1-194e12.12", "resource": "UniProtKB", "type": "synonym" }, { "name": "major histocompatibility complex class II DGB precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "mhc2dgb", "resource": "UniProtKB", "type": "recommended" }, { "name": "MHCII", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2b; mhc2d8.35b3; MHCII; si:busm1-194e12.12; si:busm1-48c11.4; si:dz194e12.12; si:dz48c11.4; zgc:123061", "resource": "RefSeq", "type": "synonym" }, { "name": "mhc2b", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2d8.35b3", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2dgb", "resource": "RefSeq", "type": "synonym" }, { "name": "si:busm1-194e12.12", "resource": "UniProtKB", "type": "synonym" }, { "name": "si:busm1-48c11.4", "resource": "UniProtKB", "type": "synonym" }, { "name": "si:dz194e12.12", "resource": "UniProtKB", "type": "synonym" }, { "name": "si:dz48c11.4", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:123061", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q6DG72-1", "uniprot_ac": "Q6DG72", "uniprot_id": "Q6DG72_DANRE", "refseq_ac": "NP_001002674", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Deoxyribonuclease", "resource": "UniProtKB", "type": "recommended" }, { "name": "deoxyribonuclease-1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "dnase1", "resource": "UniProtKB", "type": "recommended" }, { "name": "dnase1", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:92440", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:92440", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "B9P4N4-1", "uniprot_ac": "B9P4N4", "uniprot_id": "B9P4N4_DANRE", "refseq_ac": "NP_001138451", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "GnRH-R2SQS", "resource": "RefSeq", "type": "synonym" }, { "name": "Gonadotropin-releasing hormone receptor-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "gonadotropin releasing hormone receptor 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "gnrhr2", "resource": "UniProtKB", "type": "recommended" }, { "name": "gnrhr2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q6PHE4-1", "uniprot_ac": "Q6PHE4", "uniprot_id": "Q6PHE4_DANRE", "refseq_ac": "NP_956862", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Keratin, type I cytoskeletal 18b", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zgc:77517", "resource": "UniProtKB", "type": "synonym" }, { "name": "keratin, type I cytoskeletal 18b", "resource": "RefSeq", "type": "synonym" }, { "name": "keratin-like; keratin 18", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "krt18b", "resource": "UniProtKB", "type": "recommended" }, { "name": "krt18b", "resource": "RefSeq", "type": "synonym" }, { "name": "krtt1c6; zgc:66015; zgc:77517", "resource": "RefSeq", "type": "synonym" }, { "name": "krtt1c6", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:66015", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:77517", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q7ZTS4-1", "uniprot_ac": "Q7ZTS4", "uniprot_id": "K1C18_DANRE", "refseq_ac": "NP_848524", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Keratin, type I cytoskeletal 18", "resource": "UniProtKB", "type": "recommended" }, { "name": "CK-18", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cytokeratin-18", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dorsal aorta proneprin kinesin-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DreK18", "resource": "UniProtKB", "type": "synonym" }, { "name": "K18", "resource": "UniProtKB", "type": "synonym" }, { "name": "Keratin-18", "resource": "UniProtKB", "type": "synonym" }, { "name": "dorsal aorta proneprin kinesin-1; K18; CK-18; cytokeratin-18; keratin 18", "resource": "RefSeq", "type": "synonym" }, { "name": "keratin, type I cytoskeletal 18", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "krt18", "resource": "UniProtKB", "type": "recommended" }, { "name": "cb83; dapk1; DreK18; krt18; sb:cb83; wu:fa13f02; wu:fb36b04", "resource": "RefSeq", "type": "synonym" }, { "name": "dapk1", "resource": "UniProtKB", "type": "synonym" }, { "name": "krt18a.1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "A0A8N7TEZ1-1", "uniprot_ac": "A0A8N7TEZ1", "uniprot_id": "A0A8N7TEZ1_DANRE", "refseq_ac": "NP_001373396", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein LOC553479", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein LOC553479", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "krt18a.2", "resource": "UniProtKB", "type": "recommended" }, { "name": "krt18a.2", "resource": "RefSeq", "type": "synonym" }, { "name": "si:ch211-133j6.3", "resource": "RefSeq", "type": "synonym" }, { "name": "si:ch211-133j6.3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "Q4W898-1", "uniprot_ac": "Q4W898", "uniprot_id": "Q4W898_DANRE", "refseq_ac": "NP_001019618", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lymphotoxin-alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "TNF alpha; 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vitamin D (1,25- dihydroxyvitamin D3) receptor; nuclear receptor subfamily 1 group I member 1", "resource": "RefSeq", "type": "synonym" }, { "name": "1,25-dihydroxyvitamin D3 receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 1 group I member 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "VDR", "resource": "UniProtKB", "type": "synonym" }, { "name": "vitamin D3 receptor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Vdr", "resource": "UniProtKB", "type": "recommended" }, { "name": "Nr1i1", "resource": "RefSeq", "type": "synonym" }, { "name": "Nr1i1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Vdr", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060643", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ] }, { "uniprot_canonical_ac": "P16612-1", "uniprot_ac": "P16612", "uniprot_id": "VEGFA_RAT", "refseq_ac": "NP_001103804", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vascular endothelial growth factor A", "resource": "UniProtKB", "type": "recommended" }, { "name": "VEGF-A", "resource": "UniProtKB", "type": "synonym" }, { "name": "VPF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Vascular permeability factor", "resource": "UniProtKB", "type": "synonym" }, { "name": "vascular endothelial growth factor A isoform 3", "resource": "RefSeq", "type": "synonym" }, { "name": "vascular permeability factor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Vegfa", "resource": "UniProtKB", "type": "recommended" }, { "name": "Vegf; 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