{ "disease_id": "DOID:0050427", "recommended_name": { "id": "DOID:0050427", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050427", "name": "xeroderma pigmentosum", "description": "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair." }, "synonyms": [], "children": [ { "id": "DOID:0110843", "label": "xeroderma pigmentosum group A", "link_status": true, "children": [] }, { "id": "DOID:0110844", "label": "xeroderma pigmentosum group C", "link_status": true, "children": [] }, { "id": "DOID:0110845", "label": "xeroderma pigmentosum group D", "link_status": true, "children": [] }, { "id": "DOID:0110846", "label": "xeroderma pigmentosum group E", "link_status": true, "children": [] }, { "id": "DOID:0110847", "label": "xeroderma pigmentosum variant type", "link_status": true, "children": [] }, { "id": "DOID:0110848", "label": "xeroderma pigmentosum group F", "link_status": true, "children": [] }, { "id": "DOID:0110849", "label": "xeroderma pigmentosum group G", "link_status": true, "children": [] }, { "id": "DOID:0110850", "label": "xeroderma pigmentosum group B", "link_status": true, "children": [] }, { "id": "DOID:0112158", "label": "De Sanctis-Cacchione syndrome", "link_status": true, "children": [] } ], "id_list": [ "DOID:0110843", "DOID:0110847", "DOID:0112158", "DOID:0110850", "DOID:0110848", "DOID:0110844", "DOID:0050427", "DOID:0110849", "DOID:0110846", "DOID:0110845" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050427", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050427", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0AB32U361-1", "uniprot_ac": "A0AB32U361", "uniprot_id": "A0AB32U361_DANRE", "refseq_ac": "XP_068080626", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA repair endonuclease XPF", "type": "recommended" }, { "name": "DNA excision repair protein ERCC-4", "type": "synonym" }, { "name": "DNA repair endonuclease XPF isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "ercc4", "type": "recommended" }, { "name": "ercc4", "type": "synonym" }, { "name": "fancq", "type": "synonym" }, { "name": "fi03a05", "type": "synonym" }, { "name": "wu:fi03a05", "type": "synonym" }, { "name": "zgc:63468", "type": "synonym" } ], "record_id": "A0AB32U361-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q7ZVV1-1", "uniprot_ac": "Q7ZVV1", "uniprot_id": "ERCC3_DANRE", "refseq_ac": "NP_963876", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "DNA 3'-5' helicase/translocase XPB", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-3", "type": "synonym" }, { "name": "TFIIH basal transcription factor complex helicase XPB subunit", "type": "synonym" }, { "name": "TFIIH subunit XPB", "type": "synonym" }, { "name": "excision repair cross-complementing rodent repair deficiency, complementation group 3", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPB", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB", "type": "synonym" }, { "name": "xpb", "type": "synonym" } ], "gene_names": [ { "name": "ercc3", "type": "recommended" }, { "name": "ercc3", "type": "synonym" }, { "name": "wu:fc25f08", "type": "synonym" } ], "record_id": "Q7ZVV1-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q2YDS1-1", "uniprot_ac": "Q2YDS1", "uniprot_id": "DDB2_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA damage-binding protein 2", "type": "recommended" }, { "name": "Damage-specific DNA-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "ddb2", "type": "recommended" }, { "name": "si:dkey-45f10.3", "type": "synonym" } ], "record_id": "Q2YDS1-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q1LVE4-1", "uniprot_ac": "Q1LVE4", "uniprot_id": "Q1LVE4_DANRE", "refseq_ac": "NP_001038675", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-C cells", "type": "synonym" } ], "gene_names": [ { "name": "xpc", "type": "recommended" }, { "name": "wu:fb12d05", "type": "synonym" }, { "name": "wu:fb12d09", "type": "synonym" }, { "name": "xpc", "type": "synonym" }, { "name": "zgc:113032", "type": "synonym" } ], "record_id": "Q1LVE4-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "F1Q7Z9-1", "uniprot_ac": "F1Q7Z9", "uniprot_id": "F1Q7Z9_DANRE", "refseq_ac": "NP_001035337", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase eta", "type": "synonym" }, { "name": "RAD30 homolog A", "type": "synonym" } ], "gene_names": [ { "name": "polh", "type": "recommended" }, { "name": "fc50a12", "type": "synonym" }, { "name": "polh", "type": "synonym" }, { "name": "wu:fc50a12", "type": "synonym" }, { "name": "zgc:136881", "type": "synonym" }, { "name": "zgc:152642", "type": "synonym" } ], "record_id": "F1Q7Z9-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "A0A8M3ART8-1", "uniprot_ac": "A0A8M3ART8", "uniprot_id": "A0A8M3ART8_DANRE", "refseq_ac": "XP_009299378", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Telomeric repeat binding factor a isoform X1", "type": "synonym" }, { "name": "telomeric repeat binding factor a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "terfa", "type": "recommended" }, { "name": "CHUNP6903", "type": "synonym" }, { "name": "terfa", "type": "synonym" }, { "name": "wu:fi15d05", "type": "synonym" }, { "name": "wu:fi22b03", "type": "synonym" }, { "name": "zgc:111909", "type": "synonym" }, { "name": "zgc:114011", "type": "synonym" } ], "record_id": "A0A8M3ART8-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "O35144-1", "uniprot_ac": "O35144", "uniprot_id": "TERF2_MOUSE", "refseq_ac": "NP_001076587", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Telomeric repeat-binding factor 2", "type": "recommended" }, { "name": "TTAGGG repeat-binding factor 2", "type": "synonym" }, { "name": "Telomeric DNA-binding protein", "type": "synonym" }, { "name": "telomeric DNA-binding protein", "type": "synonym" }, { "name": "telomeric repeat-binding factor 2 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "Terf2", "type": "recommended" }, { "name": "TRF2", "type": "synonym" }, { "name": "Terf2", "type": "synonym" }, { "name": "Trf2", "type": "synonym" } ], "record_id": "O35144-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "P49135-1", "uniprot_ac": "P49135", "uniprot_id": "ERCC3_MOUSE", "refseq_ac": "NP_598419", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "BTF2 p89", "type": "synonym" }, { "name": "Basic transcription factor 2 89 kDa subunit", "type": "synonym" }, { "name": "DNA 3'-5' helicase/translocase XPB", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-3", "type": "synonym" }, { "name": "DNA repair protein complementing XP-B cells", "type": "synonym" }, { "name": "TFIIH 89 kDa subunit", "type": "synonym" }, { "name": "TFIIH basal transcription factor complex helicase XPB subunit", "type": "synonym" }, { "name": "TFIIH subunit XPB", "type": "synonym" }, { "name": "Xeroderma pigmentosum group B-complementing protein", "type": "synonym" }, { "name": "basic transcription factor 2 89 kDa subunit", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPB", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase/translocase subunit XPB", "type": "synonym" }, { "name": "xeroderma pigmentosum group B-complementing protein", "type": "synonym" } ], "gene_names": [ { "name": "Ercc3", "type": "recommended" }, { "name": "BTF2 p89", "type": "synonym" }, { "name": "Ercc-3", "type": "synonym" }, { "name": "Ercc3", "type": "synonym" }, { "name": "XPB", "type": "synonym" }, { "name": "Xpbc", "type": "synonym" }, { "name": "Xpb", "type": "synonym" } ], "record_id": "P49135-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q9QZD4-1", "uniprot_ac": "Q9QZD4", "uniprot_id": "XPF_MOUSE", "refseq_ac": "NP_056584", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA repair endonuclease XPF", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-4", "type": "synonym" }, { "name": "DNA repair endonuclease XPF", "type": "synonym" }, { "name": "DNA repair endonuclease subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ercc4", "type": "recommended" }, { "name": "Ercc4", "type": "synonym" }, { "name": "Xpf", "type": "synonym" } ], "record_id": "Q9QZD4-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "O08811-1", "uniprot_ac": "O08811", "uniprot_id": "ERCC2_MOUSE", "refseq_ac": "NP_031975", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase subunit XPD", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "CXPD", "type": "synonym" }, { "name": "DNA 5'-3' helicase XPD", "type": "synonym" }, { "name": "DNA excision repair protein ERCC-2", "type": "synonym" }, { "name": "DNA repair protein complementing XP-D cells", "type": "synonym" }, { "name": "TFIIH basal transcription factor complex helicase XPD subunit", "type": "synonym" }, { "name": "TFIIH subunit XPD", "type": "synonym" }, { "name": "Xeroderma pigmentosum group D-complementing protein", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1", "type": "synonym" }, { "name": "general transcription and DNA repair factor IIH helicase subunit XPD", "type": "synonym" }, { "name": "xeroderma pigmentosum group D-complementing protein", "type": "synonym" } ], "gene_names": [ { "name": "Ercc2", "type": "recommended" }, { "name": "CXPD", "type": "synonym" }, { "name": "Ercc-2", "type": "synonym" }, { "name": "Ercc2", "type": "synonym" }, { "name": "Mhdarco15", "type": "synonym" }, { "name": "RCO015", "type": "synonym" }, { "name": "XPD", "type": "synonym" }, { "name": "Xpd", "type": "synonym" } ], "record_id": "O08811-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q99J79-1", "uniprot_ac": "Q99J79", "uniprot_id": "DDB2_MOUSE", "refseq_ac": "NP_082395", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA damage-binding protein 2", "type": "recommended" }, { "name": "DNA damage-binding protein 2 isoform 1", "type": "synonym" }, { "name": "DNA damage-binding protein 2", "type": "synonym" }, { "name": "Damage-specific DNA-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Ddb2", "type": "recommended" }, { "name": "2610043A19Rik", "type": "synonym" }, { "name": "Ddb2", "type": "synonym" } ], "record_id": "Q99J79-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "P51612-1", "uniprot_ac": "P51612", "uniprot_id": "XPC_MOUSE", "refseq_ac": "NP_033557", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-C cells homolog", "type": "recommended" }, { "name": "DNA repair protein complementing XP-C cells homolog", "type": "synonym" }, { "name": "Xeroderma pigmentosum group C-complementing protein homolog", "type": "synonym" }, { "name": "p125", "type": "synonym" }, { "name": "xeroderma pigmentosum group C-complementing protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Xpc", "type": "recommended" }, { "name": "Xpc", "type": "synonym" } ], "record_id": "P51612-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q64267-1", "uniprot_ac": "Q64267", "uniprot_id": "XPA_MOUSE", "refseq_ac": "NP_035858", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-A cells homolog", "type": "recommended" }, { "name": "DNA repair protein complementing XP-A cells homolog isoform 1", "type": "synonym" }, { "name": "DNA repair protein complementing XP-A cells homolog", "type": "synonym" }, { "name": "Xeroderma pigmentosum group A-complementing protein homolog", "type": "synonym" }, { "name": "xeroderma pigmentosum group A-complementing protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Xpa", "type": "recommended" }, { "name": "Xpac", "type": "synonym" }, { "name": "Xpa", "type": "synonym" } ], "record_id": "Q64267-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q9JJN0-1", "uniprot_ac": "Q9JJN0", "uniprot_id": "POLH_MOUSE", "refseq_ac": "NP_109640", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA polymerase eta", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase eta isoform 1", "type": "synonym" }, { "name": "DNA-directed DNA polymerase eta", "type": "synonym" }, { "name": "RAD30 homolog A", "type": "synonym" }, { "name": "Xeroderma pigmentosum variant type protein homolog", "type": "synonym" }, { "name": "xeroderma pigmentosum variant type protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Polh", "type": "recommended" }, { "name": "Polh", "type": "synonym" }, { "name": "RAD30A", "type": "synonym" }, { "name": "Rad30a", "type": "synonym" }, { "name": "XPV", "type": "synonym" }, { "name": "Xpv", "type": "synonym" } ], "record_id": "Q9JJN0-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q3U1J4-1", "uniprot_ac": "Q3U1J4", "uniprot_id": "DDB1_MOUSE", "refseq_ac": "NP_056550", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA damage-binding protein 1", "type": "recommended" }, { "name": "DDB p127 subunit", "type": "synonym" }, { "name": "DNA damage-binding protein 1 isoform 2", "type": "synonym" }, { "name": "DNA damage-binding protein 1", "type": "synonym" }, { "name": "Damage-specific DNA-binding protein 1", "type": "synonym" }, { "name": "UV-damaged DNA-binding factor", "type": "synonym" }, { "name": "damage-specific DNA-binding protein, DNA repair", "type": "synonym" }, { "name": "damaged-DNA recognition protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Ddb1", "type": "recommended" }, { "name": "127kDa", "type": "synonym" }, { "name": "Ddb1", "type": "synonym" }, { "name": "p127-Ddb1", "type": "synonym" } ], "record_id": "Q3U1J4-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q00578-1", "uniprot_ac": "Q00578", "uniprot_id": "RAD25_YEAST", "refseq_ac": "NP_012123", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB/SSL2", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "DNA 3'-5' helicase/translocase XPB/SSL2", "type": "synonym" }, { "name": "DNA repair helicase RAD25/SSL2", "type": "synonym" }, { "name": "RNA polymerase II transcription factor B subunit SSL2", "type": "synonym" }, { "name": "Suppressor of stem-loop mutation 2", "type": "synonym" }, { "name": "TFB subunit SSL2", "type": "synonym" }, { "name": "TFIIH subunit XPB/SSL2", "type": "synonym" }, { "name": "TFIIH/NER complex ATPase/helicase subunit SSL2", "type": "synonym" } ], "gene_names": [ { "name": "SSL2", "type": "recommended" }, { "name": "LOM3", "type": "synonym" }, { "name": "RAD25", "type": "synonym" }, { "name": "SSL2", "type": "synonym" }, { "name": "UVS112", "type": "synonym" } ], "record_id": "Q00578-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "P14736-1", "uniprot_ac": "P14736", "uniprot_id": "RAD4_YEAST", "refseq_ac": "NP_011089", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "DNA repair protein RAD4", "type": "recommended" }, { "name": "Rad4p", "type": "synonym" } ], "gene_names": [ { "name": "RAD4", "type": "recommended" }, { "name": "RAD4", "type": "synonym" } ], "record_id": "P14736-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "P06839-1", "uniprot_ac": "P06839", "uniprot_id": "RAD3_YEAST", "refseq_ac": "NP_011098", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase subunit XPD/RAD3", "type": "recommended" }, { "name": "5.6.2.3", "type": 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"Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "type": "recommended" }, { "name": "Guanine nucleotide-binding protein beta 1", "type": "synonym" }, { "name": "Transducin beta chain 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), beta 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein (G protein), beta polypeptide 1", "type": "synonym" }, { "name": "guanine nucleotide binding protein, beta 1", "type": "synonym" }, { "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "type": "synonym" }, { "name": "guanine nucleotide-binding protein, beta-1 subunit", "type": "synonym" }, { "name": "transducin beta chain 1", "type": "synonym" } ], "gene_names": [ { "name": "Gnb1", "type": "recommended" }, { "name": "Gnb1", "type": "synonym" } ], "record_id": "P54311-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": 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}, { "name": "haywire, isoform B", "type": "synonym" }, { "name": "haywire", "type": "synonym" } ], "gene_names": [ { "name": "hay", "type": "recommended" }, { "name": "CG8019", "type": "synonym" }, { "name": "DhR25", "type": "synonym" }, { "name": "DhXPB", "type": "synonym" }, { "name": "DmXPB", "type": "synonym" }, { "name": "Dmel\\CG8019", "type": "synonym" }, { "name": "Dmel_CG8019", "type": "synonym" }, { "name": "ERCC3", "type": "synonym" }, { "name": "Hay", "type": "synonym" }, { "name": "TFIIH", "type": "synonym" }, { "name": "XPB", "type": "synonym" }, { "name": "Xpb/hay", "type": "synonym" }, { "name": "Xpb", "type": "synonym" }, { "name": "hay", "type": "synonym" }, { "name": "hwr", "type": "synonym" }, { "name": "i50", "type": "synonym" }, { "name": "ms(3)nc2", "type": "synonym" }, { "name": "nc2", "type": "synonym" } ], "record_id": "Q02870-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q24087-1", "uniprot_ac": "Q24087", "uniprot_id": "XPF_DROME", "refseq_ac": "NP_001284859", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA repair endonuclease XPF", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "CG3697-PB", "type": "synonym" }, { "name": "Protein meiotic 9", "type": "synonym" }, { "name": "mei-9-PB", "type": "synonym" }, { "name": "meiotic 9, isoform B", "type": "synonym" }, { "name": "meiotic-9", "type": "synonym" } ], "gene_names": [ { "name": "mei-9", "type": "recommended" }, { "name": "CG3697", "type": "synonym" }, { "name": "DhR1", "type": "synonym" }, { "name": "DmXPF", "type": "synonym" }, { "name": "Dmel\\CG3697", "type": "synonym" }, { "name": "MEI-9", "type": "synonym" }, { "name": "Mei-9", "type": "synonym" }, { "name": "Rad1p", "type": "synonym" }, { "name": "mei-9", "type": "synonym" }, { "name": "mei9", "type": "synonym" }, { "name": "mus(1)110", "type": "synonym" }, { "name": "mus110", "type": "synonym" }, { "name": "xpf/mei-9", "type": "synonym" } ], "record_id": "Q24087-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q7KVP9-1", "uniprot_ac": "Q7KVP9", "uniprot_id": "Q7KVP9_DROME", "refseq_ac": "NP_726036", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "General transcription and DNA repair factor IIH helicase subunit XPD", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "CG9433-PA", "type": "synonym" }, { "name": "CXPD", "type": "synonym" }, { "name": "DNA 5'-3' helicase XPD", 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"name": "l(2)SH2137", "type": "synonym" }, { "name": "xpd", "type": "synonym" } ], "record_id": "Q7KVP9-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q24595-1", "uniprot_ac": "Q24595", "uniprot_id": "XPC_DROME", "refseq_ac": "NP_476861", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-C cells homolog", "type": "recommended" }, { "name": "CG8153-PA", "type": "synonym" }, { "name": "Mutagen-sensitive 209 protein", "type": "synonym" }, { "name": "XPCDM", "type": "synonym" }, { "name": "Xeroderma pigmentosum group C-complementing protein homolog", "type": "synonym" }, { "name": "Xpc-PA", "type": "synonym" }, { "name": "mus210", "type": "synonym" }, { "name": 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D-complementing protein", "type": "synonym" } ], "gene_names": [ { "name": "ERCC2", "type": "recommended" }, { "name": "COFS2", "type": "synonym" }, { "name": "CXPD", "type": "synonym" }, { "name": "EM9", "type": "synonym" }, { "name": "ERCC2", "type": "synonym" }, { "name": "TFIIH", "type": "synonym" }, { "name": "TTD1", "type": "synonym" }, { "name": "TTD", "type": "synonym" }, { "name": "XPDC", "type": "synonym" }, { "name": "XPD", "type": "synonym" } ], "record_id": "P18074-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q92889-1", "uniprot_ac": "Q92889", "uniprot_id": "XPF_HUMAN", "refseq_ac": "NP_005227", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA repair endonuclease XPF", "type": "recommended" }, { "name": "3.1.-.-", 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{ "name": "XFEPS", "type": "synonym" }, { "name": "XPF", "type": "synonym" } ], "record_id": "Q92889-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "P23025-1", "uniprot_ac": "P23025", "uniprot_id": "XPA_HUMAN", "refseq_ac": "NP_000371", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-A cells", "type": "recommended" }, { "name": "DNA repair protein complementing XP-A cells isoform 1", "type": "synonym" }, { "name": "DNA repair protein complementing XP-A cells", "type": "synonym" }, { "name": "Xeroderma pigmentosum group A-complementing protein", "type": "synonym" }, { "name": "xeroderma pigmentosum group A-complementing protein", "type": "synonym" }, { "name": "xeroderma pigmentosum, complementation group A", "type": "synonym" } ], "gene_names": [ { "name": "XPA", "type": "recommended" }, { "name": "XP1", "type": "synonym" }, { "name": "XPAC", "type": "synonym" }, { "name": "XPA", "type": "synonym" } ], "record_id": "P23025-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q01831-1", "uniprot_ac": "Q01831", "uniprot_id": "XPC_HUMAN", "refseq_ac": "NP_004619", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA repair protein complementing XP-C cells", "type": "recommended" }, { "name": "DNA repair protein complementing XP-C cells isoform 1", "type": "synonym" }, { "name": "DNA repair protein complementing XP-C cells", "type": "synonym" }, { "name": "Xeroderma pigmentosum group C-complementing protein", "type": "synonym" }, { "name": "mutant xeroderma pigmentosum group C", "type": "synonym" }, { "name": "p125", "type": "synonym" }, { "name": "xeroderma pigmentosum, complementation group C", "type": "synonym" } ], "gene_names": [ { "name": "XPC", "type": "recommended" }, { "name": "RAD4", "type": "synonym" }, { "name": "XP3", "type": "synonym" }, { "name": "XPCC", "type": "synonym" }, { "name": "XPC", "type": "synonym" }, { "name": "p125", "type": "synonym" } ], "record_id": "Q01831-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q16531-1", "uniprot_ac": "Q16531", "uniprot_id": "DDB1_HUMAN", "refseq_ac": "NP_001914", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA damage-binding protein 1", "type": "recommended" }, { "name": "DDB p127 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"DDB1", "type": "synonym" }, { "name": "DDBA", "type": "synonym" }, { "name": "UV-DDB1", "type": "synonym" }, { "name": "WHIKERS", "type": "synonym" }, { "name": "XAP1", "type": "synonym" }, { "name": "XPCE", "type": "synonym" }, { "name": "XPE-BF", "type": "synonym" }, { "name": "XPE", "type": "synonym" } ], "record_id": "Q16531-1", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q15554-3", "uniprot_ac": "Q15554", "uniprot_id": "TERF2_HUMAN", "refseq_ac": "NP_005643", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Telomeric repeat-binding factor 2", "type": "recommended" }, { "name": "TTAGGG repeat-binding factor 2", "type": "synonym" }, { "name": "Telomeric DNA-binding protein", "type": "synonym" }, { "name": "telomeric DNA-binding protein", "type": "synonym" }, { "name": "telomeric repeat binding protein 2", "type": "synonym" }, { "name": "telomeric repeat-binding factor 2", "type": "synonym" } ], "gene_names": [ { "name": "TERF2", "type": "recommended" }, { "name": "TERF2", "type": "synonym" }, { "name": "TRBF2", "type": "synonym" }, { "name": "TRF2", "type": "synonym" } ], "record_id": "Q15554-3", "evidence": [ { "id": "0050427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050427" } ] }, { "uniprot_canonical_ac": "Q92466-1", "uniprot_ac": "Q92466", "uniprot_id": "DDB2_HUMAN", "refseq_ac": "NP_000098", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA damage-binding protein 2", "type": "recommended" }, { "name": "DDB p48 subunit", "type": "synonym" }, { "name": "DDBb", "type": "synonym" }, { "name": "DNA damage-binding protein 2 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