DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		0.300 Biomarker disease GENOMICS_ENGLAND X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 10364516 1999