DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: X-Linked Dyskeratosis Congenita ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912305
rs121912305
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498 2014
dbSNP: rs121912305
rs121912305
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544 2009
dbSNP: rs121912305
rs121912305
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation UNIPROT A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. 12437656 2002
dbSNP: rs121912305
rs121912305
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation UNIPROT Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 10583221 1999
dbSNP: rs121912305
rs121912305
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		G 0.800 CausalMutation CLINVAR