{ "disease_id": "DOID:0050776", "recommended_name": { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-syndromic X-linked intellectual disability", "description": "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern." }, "synonyms": [ { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-specific X-linked mental retardation", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "MRX95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95, X-linked dominant", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95", "description": "" } ], "children": [ { "id": "DOID:0112022", "label": "non-syndromic X-linked intellectual disability 21", "link_status": true, "children": [] }, { "id": "DOID:0112021", "label": "non-syndromic X-linked intellectual disability ARX-related", "link_status": true, "children": [] }, { "id": "DOID:0112020", "label": "non-syndromic X-linked intellectual disability 103", "link_status": true, "children": [] }, { "id": "DOID:0112026", "label": "non-syndromic X-linked intellectual disability 99", "link_status": true, "children": [] }, { "id": "DOID:0112024", "label": "non-syndromic X-linked intellectual disability 58", "link_status": true, "children": [] }, { "id": "DOID:0112029", "label": "non-syndromic X-linked intellectual disability 50", "link_status": true, "children": [] }, { "id": "DOID:0080240", "label": "non-syndromic X-linked intellectual disability 106", "link_status": true, "children": [] }, { "id": "DOID:0112019", "label": "non-syndromic X-linked intellectual disability 19", "link_status": true, "children": [] }, { "id": "DOID:0112058", "label": "non-syndromic X-linked intellectual disability 41", "link_status": true, "children": [] }, { "id": "DOID:0112059", "label": "non-syndromic X-linked intellectual disability 72", "link_status": true, "children": [] }, { "id": "DOID:0112050", "label": "non-syndromic X-linked intellectual disability 63", "link_status": true, "children": [] }, { "id": "DOID:0112051", "label": "non-syndromic X-linked intellectual disability 30", "link_status": true, "children": [] }, { "id": "DOID:0112054", "label": "non-syndromic X-linked intellectual 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X-linked intellectual disability 93", "link_status": true, "children": [] }, { "id": "DOID:0112044", "label": "non-syndromic X-linked intellectual disability 98", "link_status": true, "children": [] }, { "id": "DOID:0112046", "label": "non-syndromic X-linked intellectual disability 97", "link_status": true, "children": [] }, { "id": "DOID:0112041", "label": "non-syndromic X-linked intellectual disability 90", "link_status": true, "children": [] }, { "id": "DOID:0112040", "label": "non-syndromic X-linked intellectual disability 100", "link_status": true, "children": [] }, { "id": "DOID:0112043", "label": "non-syndromic X-linked intellectual disability 91", "link_status": true, "children": [] } ], "id_list": [ "DOID:0050776", "DOID:0112021", "DOID:0112018", "DOID:0112038", "DOID:0112022", "DOID:0112044", "DOID:0112050", "DOID:0112043", "DOID:0112051", "DOID:0112019", "DOID:0112034", "DOID:0112040", "DOID:0080240", "DOID:0112059", "DOID:0112026", "DOID:0112054", "DOID:0112020", "DOID:0112058", "DOID:0112048", "DOID:0112036", "DOID:0112041", "DOID:0112035", "DOID:0112046", "DOID:0060929", "DOID:0112024", "DOID:0112045", "DOID:0112029" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050776", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "categories": [] }, { "id": "MONDO:0010413", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VE52-1", "uniprot_ac": "Q9VE52", "uniprot_id": "Q9VE52_DROME", "refseq_ac": "NP_477453", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG7697-PA; CstF64-PA; cleavage stimulation factor 64 kilodalton subunit", "resource": "RefSeq", "type": "synonym" }, { "name": "Cleavage stimulation factor 64 kD subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cleavage stimulation factor 64 kilodalton subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "FI01908p", "resource": "UniProtKB", "type": "synonym" }, { "name": "cleavage stimulation factor 64 kD subunit", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CstF64", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG7697; CstF 64; CStF 64; CstF-64; dCstF64; Dmel\\CG7697", "resource": "RefSeq", "type": "synonym" }, { "name": "CG7697", "resource": "UniProtKB", "type": "synonym" }, { "name": "CStF 64", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF 64", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF-64-RA", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF-64", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF64", "resource": "RefSeq", "type": "synonym" }, { "name": "Dmel\\CG7697", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG7697", "resource": "UniProtKB", "type": "synonym" }, { "name": "dCstF64", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9VLB7-1", "uniprot_ac": "Q9VLB7", "uniprot_id": "Q9VLB7_DROME", "refseq_ac": "NP_001245953", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Rab GDP dissociation inhibitor", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG4422-PB; Gdi-PB; rab GDP dissociation inhibitor; Gdi-related", "resource": "RefSeq", "type": "synonym" }, { "name": "GDP dissociation inhibitor, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gdi", "resource": "UniProtKB", "type": "recommended" }, { "name": "Bulli; CG4422; dGDI; Dmel\\CG4422; gdi; GdI; GDI; l(2)N7-3; lincRNA.S746; N7-3; rab GDI", "resource": "RefSeq", "type": "synonym" }, { "name": "Bulli", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG4422", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG4422", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG4422", "resource": "UniProtKB", "type": "synonym" }, { "name": "GDI", "resource": "UniProtKB", "type": "synonym" }, { "name": "GdI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gdi", "resource": "RefSeq", "type": "synonym" }, { "name": "N7-3", "resource": "UniProtKB", "type": "synonym" }, { "name": "dGDI", "resource": "UniProtKB", "type": "synonym" }, { "name": "gdi", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)N7-3", "resource": "UniProtKB", "type": "synonym" }, { "name": "lincRNA.S746", "resource": "UniProtKB", "type": "synonym" }, { "name": "rab GDI", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "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": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A8JRE3-1", "uniprot_ac": "A8JRE3", "uniprot_id": "A8JRE3_DROME", "refseq_ac": "NP_001097946", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG5965-PB; woc-PB; with out children; without children", "resource": "RefSeq", "type": "synonym" }, { "name": "Without children, isoform B", "resource": "UniProtKB", "type": "synonym" }, { "name": "without children, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "woc", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG5965; Dmel\\CG5965; Woc; WOC", "resource": "RefSeq", "type": "synonym" }, { "name": "CG5965", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG5965", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG5965", "resource": "UniProtKB", "type": "synonym" }, { "name": "WOC", "resource": "UniProtKB", "type": "synonym" }, { "name": "Woc", "resource": "UniProtKB", "type": "synonym" }, { "name": "woc", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q06453-1", "uniprot_ac": "Q06453", "uniprot_id": "AL_DROME", "refseq_ac": "NP_722629", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Homeobox protein aristaless", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG3935-PA; al-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "aristaless", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "al", "resource": "UniProtKB", "type": "recommended" }, { "name": "A1; Al; AL; CG3935; Dmel\\CG3935; L13-4; lambda13-4", "resource": "RefSeq", "type": "synonym" }, { "name": "CG3935", "resource": "UniProtKB", "type": "synonym" }, { "name": "al", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9VDD9-1", "uniprot_ac": "Q9VDD9", "uniprot_id": "TRM72_DROME", "refseq_ac": "NP_650947", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "tRNA (guanosine(34)-2'-O)-methyltransferase", "resource": "UniProtKB", "type": "recommended" }, { "name": "2'-O-ribose RNA methyltransferase TRM7 homolog 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "2.1.1.205", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG7009-PA; Trm7-34-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "tRNA methyltransferase 7-34", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Trm7-34", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG7009; Dmel\\CG7009; dTrm7_34; Trm7_34", "resource": "RefSeq", "type": "synonym" }, { "name": "CG7009", "resource": "UniProtKB", "type": "synonym" }, { "name": "Trm7-34", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9VWB9-1", "uniprot_ac": "Q9VWB9", "uniprot_id": "THADA_DROME", "refseq_ac": "NP_608361", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "tRNA (32-2'-O)-methyltransferase regulator THADA", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG15618-PB; THADA-PB", "resource": "RefSeq", "type": "synonym" }, { "name": "THADA, isoform B", "resource": "RefSeq", "type": "synonym" }, { "name": "Thyroid adenoma-associated protein homolog", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "THADA", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG15618; Dmel\\CG15618", "resource": "RefSeq", "type": "synonym" }, { "name": "CG15618", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG15618", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG15618", "resource": "UniProtKB", "type": "synonym" }, { "name": "THADA", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9VEP1-1", "uniprot_ac": "Q9VEP1", "uniprot_id": "TRM71_DROME", "refseq_ac": "NP_650590", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "tRNA (cytidine(32)-2'-O)-methyltransferase", "resource": "UniProtKB", "type": "recommended" }, { "name": "2'-O-ribose RNA methyltransferase TRM7 homolog 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "2.1.1.205", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG5220-PA; Trm7-32-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "tRNA methyltransferase 7-32", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Trm7-32", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG5220; Dm TRM7; Dmel\\CG5220; dTrm7_32; Trm7_32", "resource": "RefSeq", "type": "synonym" }, { "name": "CG5220", "resource": "UniProtKB", "type": "synonym" }, { "name": "Trm7-32", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9VP80-1", "uniprot_ac": "Q9VP80", "uniprot_id": "Q9VP80_DROME", "refseq_ac": "NP_730594", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG32434-PB; siz-PB; loner; dBRAG; schizo", "resource": "RefSeq", "type": "synonym" }, { "name": "FI21420p1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Loner ISO1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Schizo, 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"UniProtKB", "type": "synonym" }, { "name": "siz", "resource": "RefSeq", "type": "synonym" }, { "name": "siz", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P31007-2", "uniprot_ac": "P31007", "uniprot_id": "DLG1_DROME", "refseq_ac": "NP_001096955", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Disks large 1 tumor suppressor protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG1725-PK; dlg1-PK; discslarge; disc large; lethal(1)discs-large; lethal(2)discs large; disk large; Disc-Large; disclarge; Discs-large; discs large 1; lethal(1)benign wing imaginal disc neoplasm; Discs-large 1; lethal(1)discs large", "resource": "RefSeq", "type": "synonym" }, { "name": "Dlg", "resource": "UniProtKB", "type": "synonym" }, { "name": "discs large 1, isoform K", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "dlg1", "resource": "UniProtKB", "type": "recommended" }, { "name": "11; anon-EST:Posey93; anon-WO03040301.258; anon-WO03040301.260; anon-WO03040301.268; CG1725; CG1730; CPD; d. lg.-1; Discs Large; Discs-large; dlg; Dlg; DLG; dlg-1; dlg-A; Dlg-A; DLG-A; Dlg1; DLG1; dlgA; DlgA; dlgS97; DlgS97; Dmel\\CG1725; Drodlg; l(1)10Bf; l(1)bwn; l(1)d.lg-1; l(1)d.lg.-1; l(1)discs large; l(1)dlg; l(1)dlg-1; l(1)dlg1; l(1)G0276; l(1)G0342; l(1)G0456; l(1)G19; l(1)l.pr.-2; l(1)L11; l(1)lpr-2; misb; PSD-95; PSD95; SAP97", "resource": "RefSeq", "type": "synonym" }, { "name": "CG1725", "resource": "UniProtKB", "type": "synonym" }, { "name": "dlg1", "resource": "RefSeq", "type": "synonym" }, { "name": "l(1)dlg1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A0A0B4KFE4-1", "uniprot_ac": "A0A0B4KFE4", "uniprot_id": "A0A0B4KFE4_DROME", "refseq_ac": "NP_001260810", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "long-chain-fatty-acid--CoA ligase", "resource": "UniProtKB", "type": "recommended" }, { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Acyl-CoA synthetase long-chain, isoform J", "resource": "RefSeq", "type": "synonym" }, { "name": "CG8732-PJ; Acsl-PJ; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Acsl", "resource": "UniProtKB", "type": "recommended" }, { "name": "7447; ACS; acsl; ACSL1; ACSL3; ACSL3/4; anon-WO0172774.173; CG8732; dAcsl; dFAC; Dmel\\CG8732; FACS; FCS; l(2)05847; l(2)44DEa; l(2)7447; l(2)k05304; l(2)SH0465; l(2)SH2 0465", "resource": "RefSeq", "type": "synonym" }, { "name": "7447", "resource": "UniProtKB", "type": "synonym" }, { "name": "ACSL1", "resource": "UniProtKB", "type": "synonym" }, { "name": "ACSL3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Acsl", "resource": "RefSeq", "type": "synonym" }, { "name": "CG8732", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG8732", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG8732", "resource": "UniProtKB", "type": "synonym" }, { "name": "FACS", "resource": "UniProtKB", "type": "synonym" }, { "name": "FCS", "resource": "UniProtKB", "type": "synonym" }, { "name": "anon-WO0172774.173", "resource": "UniProtKB", "type": "synonym" }, { "name": "dAcsl", "resource": "UniProtKB", "type": "synonym" }, { "name": "dFAC", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)05847", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)44DEa", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)7447", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)SH0465", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)SH2 0465", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)k05304", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q5DU25-1", "uniprot_ac": "Q5DU25", "uniprot_id": "IQEC2_MOUSE", "refseq_ac": "XP_006528908", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "IQ motif and SEC7 domain-containing protein 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "IQ motif and SEC7 domain-containing protein 2 isoform X4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Iqsec2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Brag1", "resource": "RefSeq", "type": "synonym" }, { "name": "IQArfGEF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Iqsec2", "resource": "RefSeq", "type": "synonym" }, { "name": "Kiaa0522", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P70175-1", "uniprot_ac": "P70175", "uniprot_id": "DLG3_MOUSE", "refseq_ac": "NP_001171249", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large homolog 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "SAP-102", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAP102", "resource": "UniProtKB", "type": "synonym" }, { "name": "Synapse-associated protein 102", "resource": "UniProtKB", "type": "synonym" }, { "name": "disks large homolog 3 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "disks large homolog 3; synapse-associated protein 102; discs, large homolog 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Dlg3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dlg3", "resource": "RefSeq", "type": "synonym" }, { "name": "Dlgh3; mKIAA1232; SAP102", "resource": "RefSeq", "type": "synonym" }, { "name": "Dlgh3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P50396-1", "uniprot_ac": "P50396", "uniprot_id": "GDIA_MOUSE", "refseq_ac": "NP_034403", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Rab GDP dissociation inhibitor alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "GDI-1; guanosine diphosphate (GDP) dissociation inhibitor 1; rab GDI alpha; guanosine diphosphate dissociation inhibitor 1; Rab GDIalpha", "resource": "RefSeq", "type": "synonym" }, { "name": "GDI-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Guanosine diphosphate dissociation inhibitor 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rab GDI alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "rab GDP dissociation inhibitor alpha", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gdi1", "resource": "UniProtKB", "type": "recommended" }, { "name": "GDIA; GDIalpha", "resource": "RefSeq", "type": "synonym" }, { "name": "Gdi1", "resource": "RefSeq", "type": "synonym" }, { "name": "RP23-436K3.9-007", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rabgdia", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q8BIQ5-1", "uniprot_ac": "Q8BIQ5", "uniprot_id": "CSTF2_MOUSE", "refseq_ac": "NP_001277328", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cleavage stimulation factor subunit 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "CF-1 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "CSTF 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cleavage stimulation factor 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF-64", "resource": "UniProtKB", "type": "synonym" }, { "name": "cleavage stimulation factor subunit 2 isoform 3", "resource": "RefSeq", "type": "synonym" }, { "name": "cleavage stimulation factor subunit 2; CF-1 64 kDa subunit; CSTF 64 kDa subunit; cleavage stimulation factor, 3' pre-RNA subunit 2, 64 kDa", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Cstf2", "resource": "UniProtKB", "type": "recommended" }, { "name": "C630034J23Rik; Cstf64; mir-3112", "resource": "RefSeq", "type": "synonym" }, { "name": "Cstf2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P52734-1", "uniprot_ac": "P52734", "uniprot_id": "FGD1_MOUSE", "refseq_ac": "NP_032027", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "FYVE, RhoGEF and PH domain-containing protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "FYVE, RhoGEF and PH domain-containing protein 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Faciogenital dysplasia 1 protein homolog", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rho/Rac GEF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rho/Rac guanine nucleotide exchange factor FGD1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zinc finger FYVE domain-containing protein 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "rho/Rac GEF; faciogenital dysplasia 1 protein homolog; zinc finger FYVE domain-containing protein 3; rho/Rac guanine nucleotide exchange factor FGD1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fgd1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fgd1", "resource": "RefSeq", "type": "synonym" }, { "name": "ZFYVE3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P70377-1", "uniprot_ac": "P70377", "uniprot_id": "FGF13_MOUSE", "refseq_ac": "NP_001277344", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor 13", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF-13", "resource": "UniProtKB", "type": "synonym" }, { "name": "FHF-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fibroblast growth factor homologous factor 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 13 isoform 3", "resource": "RefSeq", "type": "synonym" }, { "name": "fibroblast growth factor homologous factor 2; fibroblast growth factor 1c", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fgf13", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fgf13", "resource": "RefSeq", "type": "synonym" }, { "name": "Fgf1c; Fhf2", "resource": "RefSeq", "type": "synonym" }, { "name": "Fhf2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9JLM4-1", "uniprot_ac": "Q9JLM4", "uniprot_id": "ZMYM3_MOUSE", "refseq_ac": "NP_062805", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc finger MYM-type protein 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "DXHXS6673E protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zinc finger protein 261", "resource": "UniProtKB", "type": "synonym" }, { "name": "zinc finger MYM-type protein 3 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "zinc finger MYM-type protein 3; zinc finger protein 261", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Zmym3", "resource": "UniProtKB", "type": "recommended" }, { "name": "9030216B10Rik; DXS6673El; Zfp261", "resource": "RefSeq", "type": "synonym" }, { "name": "Kiaa0385", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zfp261", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zmym3", "resource": "RefSeq", "type": "synonym" }, { "name": "Znf261", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9QUJ7-1", "uniprot_ac": "Q9QUJ7", "uniprot_id": "ACSL4_MOUSE", "refseq_ac": "NP_001028772", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Long-chain-fatty-acid--CoA ligase 4", "resource": "UniProtKB", "type": "recommended" }, { "name": "6.2.1.15", "resource": "UniProtKB", "type": "synonym" }, { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Arachidonate--CoA ligase", "resource": "UniProtKB", "type": "synonym" }, { "name": "LACS 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Long-chain acyl-CoA synthetase 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "fatty acid-Coenzyme A ligase, long chain 4; long-chain-fatty-acid--CoA ligase 4; mACS4; LACS 4; long-chain acyl-CoA synthetase 4; arachidonate--CoA ligase", "resource": "RefSeq", "type": "synonym" }, { "name": "long-chain-fatty-acid--CoA ligase 4 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "mACS4", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Acsl4", "resource": "UniProtKB", "type": "recommended" }, { "name": "9430020A05Rik; ACS4; Facl4; Lacs4", "resource": "RefSeq", "type": "synonym" }, { "name": "Acs4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Acsl4", "resource": "RefSeq", "type": "synonym" }, { "name": "Facl4", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "O35137-1", "uniprot_ac": "O35137", "uniprot_id": "ALX4_MOUSE", "refseq_ac": "NP_031468", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Homeobox protein aristaless-like 4", "resource": "UniProtKB", "type": "recommended" }, { "name": "ALX-4; Strong's luxoid; aristaless 4; Aristaless-like 4", "resource": "RefSeq", "type": "synonym" }, { "name": "ALX-4", "resource": "UniProtKB", "type": "synonym" }, { "name": "homeobox protein aristaless-like 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Alx4", "resource": "UniProtKB", "type": "recommended" }, { "name": "Alx4", "resource": "RefSeq", "type": "synonym" }, { "name": "lst", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q9CZW4-1", "uniprot_ac": "Q9CZW4", "uniprot_id": "ACSL3_MOUSE", "refseq_ac": "NP_001028778", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fatty acid CoA ligase Acsl3", "resource": "UniProtKB", "type": "recommended" }, { "name": "6.2.1.15", "resource": "UniProtKB", "type": "synonym" }, { "name": "6.2.1.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Arachidonate--CoA ligase", "resource": "UniProtKB", "type": "synonym" }, { "name": "LACS 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Long-chain acyl-CoA synthetase 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Long-chain-fatty-acid--CoA ligase 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Medium-chain acyl-CoA ligase Acsl3", "resource": "UniProtKB", "type": "synonym" }, { "name": "fatty acid CoA ligase Acsl3 isoform a", "resource": "RefSeq", "type": "synonym" }, { "name": "fatty acid Coenzyme A ligase, long chain 3; long-chain-fatty-acid--CoA ligase 3; long-chain acyl-CoA synthetase 3; arachidonate--CoA ligase; medium-chain acyl-CoA ligase Acsl3; fatty acid CoA ligase Acsl3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Acsl3", "resource": "UniProtKB", "type": "recommended" }, { "name": "2610510B12Rik; Acs3; Facl3; LACS 3; Pro2194", "resource": "RefSeq", "type": "synonym" }, { "name": "Acs3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Acsl3", "resource": "RefSeq", "type": "synonym" }, { "name": "Facl3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A8C756-1", "uniprot_ac": "A8C756", "uniprot_id": "THADA_MOUSE", "refseq_ac": "NP_898842", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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[9606]" } ], "protein_names": [ { "name": "Homeobox protein aristaless-like 4", "resource": "UniProtKB", "type": "recommended" }, { "name": "homeobox protein aristaless-like 4", "resource": "RefSeq", "type": "synonym" }, { "name": "homeodomain transcription factor ALX4; aristaless-like homeobox 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ALX4", "resource": "UniProtKB", "type": "recommended" }, { "name": "ALX4", "resource": "RefSeq", "type": "synonym" }, { "name": "CRS5; FND2", "resource": "RefSeq", "type": "synonym" }, { "name": "KIAA1788", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q8N693-1", "uniprot_ac": "Q8N693", "uniprot_id": "ESX1_HUMAN", "refseq_ac": "NP_703149", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", 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"name": "tRNA (32-2'-O)-methyltransferase regulator THADA", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gene inducing thyroid adenomas protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "Thyroid adenoma-associated protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "tRNA (32-2'-O)-methyltransferase regulator THADA isoform a", "resource": "RefSeq", "type": "synonym" }, { "name": "thyroid adenoma-associated protein; death receptor-interacting protein; gene inducing thyroid adenomas protein; Trm732 homolog; tRNA (32-2'-O)-methyltransferase regulator THADA", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "THADA", "resource": "UniProtKB", "type": "recommended" }, { "name": "ARMC13; GITA; Trm732", "resource": "RefSeq", "type": "synonym" }, { "name": "GITA", "resource": "UniProtKB", "type": "synonym" }, { "name": "KIAA1767", "resource": "UniProtKB", "type": "synonym" }, { "name": "THADA", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P31150-1", "uniprot_ac": "P31150", "uniprot_id": "GDIA_HUMAN", "refseq_ac": "NP_001484", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Rab GDP dissociation inhibitor alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "GDI-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Guanosine diphosphate dissociation inhibitor 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Oligophrenin-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein XAP-4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rab GDI alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "rab GDP dissociation inhibitor alpha", "resource": "RefSeq", "type": "synonym" }, { "name": "rab GDP-dissociation inhibitor, alpha; GDI-1; protein XAP-4; rab GDI alpha; oligophrenin-2; guanosine diphosphate dissociation inhibitor 1; testis secretory sperm-binding protein Li 208a", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "GDI1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A; RABGDIA; XAP-4; XLID41", "resource": "RefSeq", "type": "synonym" }, { "name": "GDI1", "resource": "RefSeq", "type": "synonym" }, { "name": "GDIL", "resource": "UniProtKB", "type": "synonym" }, { "name": "OPHN2", "resource": "UniProtKB", "type": "synonym" }, { "name": "RABGDIA", "resource": "UniProtKB", "type": "synonym" }, { "name": "XAP4", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_2039440", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q92796-1", "uniprot_ac": "Q92796", "uniprot_id": "DLG3_HUMAN", "refseq_ac": "NP_001159750", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Disks large homolog 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Neuroendocrine-DLG", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAP-102", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAP102", "resource": "UniProtKB", "type": "synonym" }, { "name": "Synapse-associated protein 102", "resource": "UniProtKB", "type": "synonym" }, { "name": "XLMR", "resource": "UniProtKB", "type": "synonym" }, { "name": "disks large homolog 3 isoform c", "resource": "RefSeq", "type": "synonym" }, { "name": "disks large homolog 3; neuroendocrine-DLG; protein phosphatase 1, regulatory 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domain-containing protein 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "IQ motif and SEC7 domain-containing protein 2 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "IQ motif and SEC7 domain-containing protein 2; brefeldin A resistant Arf-guanine nucleotide exchange factor 1b; brefeldin A resistant Arf-guanine nucleotide exchange factor 1c; IQ motif and Sec7 domain 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "IQSEC2", "resource": "UniProtKB", "type": "recommended" }, { "name": "BRAG1; IQ-ArfGEF; MRX1; MRX18; MRX78; XLID1", "resource": "RefSeq", "type": "synonym" }, { "name": "IQSEC2", "resource": "RefSeq", "type": "synonym" }, { "name": "KIAA0522", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q14202-1", "uniprot_ac": "Q14202", "uniprot_id": "ZMYM3_HUMAN", "refseq_ac": "NP_001164633", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc finger MYM-type protein 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Zinc finger protein 261", "resource": "UniProtKB", "type": "synonym" }, { "name": "zinc finger MYM-type protein 3 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "zinc finger protein 261; zinc finger MYM-type protein 3; zinc finger, MYM-type 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ZMYM3", "resource": "UniProtKB", "type": "recommended" }, { "name": "DXS6673E; MYM; XFIM; XLID112; ZNF198L2; ZNF261", "resource": "RefSeq", "type": "synonym" }, { "name": "DXS6673E", "resource": "UniProtKB", "type": "synonym" }, { "name": "KIAA0385", "resource": "UniProtKB", "type": "synonym" }, { "name": "ZMYM3", "resource": "RefSeq", "type": "synonym" }, { "name": "ZNF261", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P98174-1", "uniprot_ac": "P98174", "uniprot_id": "FGD1_HUMAN", "refseq_ac": "NP_004454", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "FYVE, RhoGEF and PH domain-containing protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "FYVE, RhoGEF and PH domain-containing protein 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Faciogenital dysplasia 1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rho/Rac GEF", "resource": "UniProtKB", "type": "synonym" }, { "name": "Rho/Rac guanine nucleotide exchange factor 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"no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor 13", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF-13", "resource": "UniProtKB", "type": "synonym" }, { "name": "FHF-2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Fibroblast growth factor homologous factor 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 13 isoform 4", "resource": "RefSeq", "type": "synonym" }, { "name": "fibroblast growth factor homologous factor 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FGF13", "resource": "UniProtKB", "type": "recommended" }, { "name": "DEE90; FGF-13; FGF2; FHF-2; FHF2; LINC00889; XLID110", "resource": "RefSeq", "type": "synonym" }, { "name": "FGF13", "resource": "RefSeq", "type": "synonym" }, { "name": "FHF2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "P33240-1", "uniprot_ac": "P33240", "uniprot_id": "CSTF2_HUMAN", "refseq_ac": "NP_001293138", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cleavage stimulation factor subunit 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "CF-1 64 kDa subunit; CSTF 64 kDa subunit; cleavage stimulation factor 64 kDa subunit; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa", "resource": "RefSeq", "type": "synonym" }, { "name": "CF-1 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "CSTF 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cleavage stimulation factor 64 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "CstF-64", "resource": "UniProtKB", "type": "synonym" }, { "name": "cleavage stimulation factor subunit 2 isoform 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CSTF2", "resource": "UniProtKB", "type": "recommended" }, { "name": "CSTF2", "resource": "RefSeq", "type": "synonym" }, { "name": "CstF-64; CSTF64; XLID113", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A0A0R4I9I2-1", "uniprot_ac": "A0A0R4I9I2", "uniprot_id": "A0A0R4I9I2_DANRE", "refseq_ac": "XP_009289373", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cleavage stimulation factor subunit 2 isoform X1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cleavage stimulation factor, 3' pre-RNA, subunit 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "cleavage stimulation factor subunit 2 isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "cstf2", "resource": "UniProtKB", "type": "recommended" }, { "name": "CstF-64; fb11e07; wu:fb11e07; zgc:56346; zgc:77730", "resource": "RefSeq", "type": "synonym" }, { "name": "CstF-64", "resource": "UniProtKB", "type": "synonym" }, { "name": "cstf2", "resource": "RefSeq", "type": "synonym" }, { "name": "fb11e07", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fb11e07", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:56346", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:77730", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A0A8N7T6X2-1", "uniprot_ac": "A0A8N7T6X2", "uniprot_id": "A0A8N7T6X2_DANRE", "refseq_ac": "XP_688794", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "FYVE, RhoGEF and PH domain-containing protein 1 isoform X1", "resource": "RefSeq", "type": "synonym" }, { "name": "FYVE, RhoGEF and PH domain-containing protein 1 isoform X1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "fgd1", "resource": "UniProtKB", "type": "recommended" }, { "name": "fgd1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A0AB32T422-1", "uniprot_ac": "A0AB32T422", "uniprot_id": "A0AB32T422_DANRE", "refseq_ac": "XP_068069297", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Fibroblast growth factor", "resource": "UniProtKB", "type": "recommended" }, { "name": "FGF", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor 13a isoform X3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "fgf13a", "resource": "UniProtKB", "type": "recommended" }, { "name": "fgf13; zgc:101784", "resource": "RefSeq", "type": "synonym" }, { "name": "fgf13a", "resource": "RefSeq", "type": "synonym" }, { "name": "fgf13", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:101784", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "A2AR68-1", "uniprot_ac": "A2AR68", "uniprot_id": "A2AR68_DANRE", "refseq_ac": "NP_001018444", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Rab GDP dissociation inhibitor", "resource": "UniProtKB", "type": "recommended" }, { "name": "rab GDP dissociation inhibitor alpha", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "gdi1", "resource": "UniProtKB", "type": "recommended" }, { "name": "gdi1", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:110600", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:110600", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "F6NSV0-1", "uniprot_ac": "F6NSV0", 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"Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "B0S5C4-1", "uniprot_ac": "B0S5C4", "uniprot_id": "B0S5C4_DANRE", "refseq_ac": "NP_001139404", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "long-chain-fatty-acid--CoA ligase", "resource": "UniProtKB", "type": "recommended" }, { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym" }, { "name": "acyl-CoA synthetase long-chain family member 3", "resource": "RefSeq", "type": "synonym" }, { "name": "long-chain-fatty-acid--CoA ligase 3b", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "acsl3b", "resource": "UniProtKB", "type": "recommended" }, { "name": "acsl3; fa07a08; im:7155129; si:dkey-20f20.5; wu:fa07a08; wu:fb34c03", "resource": "RefSeq", "type": "synonym" }, { "name": "acsl3b", "resource": "RefSeq", "type": "synonym" }, { "name": "acsl3", "resource": "UniProtKB", "type": "synonym" }, { "name": "fa07a08", "resource": "UniProtKB", "type": "synonym" }, { "name": "im:7155129", "resource": "UniProtKB", "type": "synonym" }, { "name": "si:dkey-20f20.5", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fa07a08", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fb34c03", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "uniprot_canonical_ac": "Q6PFP1-1", "uniprot_ac": "Q6PFP1", "uniprot_id": "Q6PFP1_DANRE", "refseq_ac": "NP_956943", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "long-chain-fatty-acid--CoA ligase", "resource": 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