Dyskeratosis congenita, x-linked

Disease Term Disease ID Gene Symbol Classification References Source
X-Linked Dyskeratosis Congenita C1148551 DKC1 Causal Pathogenic evidence from ClinVar 9590285, 9886310, 10364516, 10583221, 11379875, 12137939, 12437656, 15304085, 17417794, 17785587, 18802941, 19734544, 19879169, 21602826, 22299032, 24914498, 25219674, 29483670 ClinVar
CD59 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24382084 -
GAR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22299032 -
NPM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31570891 -
TERC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17785587 -
TERT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16247010, 17785587, 18042801 -
TINF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18252230 -