Xeroderma pigmentosum

Disease Term Disease ID Gene Symbol Classification References Source
Xeroderma pigmentosum 910 DDB2 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC2 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC3 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC4 Causal Pathogenic evidence from ClinVar - ClinVar
ERCC5 Causal Pathogenic evidence from ClinVar - ClinVar
XPA Causal Pathogenic evidence from ClinVar - ClinVar
XPC Causal Pathogenic evidence from ClinVar - ClinVar
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E C1848411 DDB2 Causal Pathogenic evidence from ClinVar 8798680, 10469312, 12812979, 14769931, 15558025, 21107348, 24105368, 24753253, 26884178 ClinVar
Xeroderma Pigmentosum C0043346 ERCC2 Causal Pathogenic evidence from ClinVar 7920640 ClinVar
ERCC5 Causal Pathogenic evidence from ClinVar 7951246 ClinVar
POLH Causal Pathogenic evidence from ClinVar 22745795 ClinVar
XPA Causal Pathogenic evidence from ClinVar 1372103, 9671271, 19917958, 20534089, 24084170, 26302748, 27607234, 29208038 ClinVar
XPC Causal Pathogenic evidence from ClinVar 11121128, 16081512, 17079196, 21482201, 24084170, 24218596, 26884178, 27413738 ClinVar
BIVM-ERCC5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7951246 -
ERCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17273966, 23623389 -
Xeroderma Pigmentosum, Complementation Group D C0268138 ERCC2 Causal Pathogenic evidence from ClinVar 601675, 7585650, 7825573, 7849702, 9012405, 9101292, 9238033, 10447254, 11709541, 11710928, 11955452, 12820975, 15494306, 16904611, 18637129, 20633800, 22826098, 23800062, 24105368, 24252196, 26884178, 27004399, 27504877, 28376890 ClinVar
Xeroderma pigmentosum, group B C0268136 ERCC3 Causal Pathogenic evidence from ClinVar 2167179, 8304337, 8408834, 10447254, 16947863, 19114557, 24105368, 26884178 ClinVar
Xeroderma pigmentosum, group F C0268140 ERCC4 Causal Pathogenic evidence from ClinVar 3372781, 8797827, 9579555, 9580660, 10447254, 14729965, 20221251, 21612988, 22044607, 23623389, 24105368, 26074087, 26453996, 26884178 ClinVar
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME C3806565 ERCC4 Causal Pathogenic evidence from ClinVar - ClinVar
Xeroderma pigmentosum, group G C0268141 ERCC5 Causal Pathogenic evidence from ClinVar 1206391, 7951246, 9096355, 10022922, 10447254, 11228268, 11841555, 12060391, 15082767, 23255472, 24105368 ClinVar
BIVM-ERCC5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15082767 -
Xeroderma Pigmentosum, Type G-Cockayne Syndrome C1968561 ERCC5 Causal Pathogenic evidence from ClinVar - ClinVar
BIVM-ERCC5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Xeroderma pigmentosum variant 90342 POLH Causal Pathogenic evidence from ClinVar - ClinVar
Xeroderma pigmentosum, variant form C0432328 POLH Causal Pathogenic evidence from ClinVar 24130121 ClinVar
Xeroderma pigmentosum, variant type C1848410 POLH Causal Pathogenic evidence from ClinVar 10385124, 10398605, 11032022, 11121129, 11773631, 16397220, 17015482, 17344931, 18368133, 18703314, 23651273, 24105368, 24130121, 25128761, 26884178, 27004399, 30511002 ClinVar
GTPBP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11121129, 18703314 -
Xeroderma pigmentosum, group A C0268135 XPA Causal Pathogenic evidence from ClinVar 1339397, 1372102, 1372103, 1702221, 2168777, 2234061, 7675085, 7876263, 8504220, 9101292, 9671271, 10447254, 11687625, 11950998, 15214909, 16098033, 16491090, 16905156, 19917958, 20054342, 20199544, 20534089, 20574439, 22081045, 23194742, 24105368, 25256075, 25525159, 25566891, 26302748, 26743599, 26884178, 27607234, 27982466, 30565713 ClinVar
XPC Causal Pathogenic evidence from ClinVar - ClinVar
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C C2752147 XPC Causal Pathogenic evidence from ClinVar 7675084, 8298653, 10029060, 10447254, 10766188, 11121128, 11511294, 15107491, 16081512, 16990803, 17079196, 17355181, 17682058, 18955168, 19119101, 19478817, 19609301, 20054342, 20463673, 21482201, 23173980, 23278166, 23984341, 24105368, 24218596, 25256075, 25525159, 25566891, 26278556, 26884178, 27387384, 27413738, 27607234, 29973595, 30565713 ClinVar