Uv-sensitive syndrome

Disease Term Disease ID Gene Symbol Classification References Source
UV-sensitive syndrome 178338 UVSSA Causal Pathogenic evidence from ClinVar - ClinVar
ERCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ERCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
UV-Sensitive Syndrome C1833561 UVSSA Causal Pathogenic evidence from ClinVar 22466610, 22466611, 22466612 ClinVar
ERCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7063265, 15486090, 25655951, 26972010 -
ERCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19329487, 25655951 -
UV-SENSITIVE SYNDROME 3 C3553328 UVSSA Causal Pathogenic evidence from ClinVar 22466610, 22466611, 22466612 ClinVar
UV-SENSITIVE SYNDROME 1 C3551173 ERCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7063265, 26749132 -
UV-SENSITIVE SYNDROME 2 C3553298 ERCC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19329487 -