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: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation BEFREE To investigate the effects of pathogenic DKC1 mutations on telomere repair and hematopoietic development, we derived induced pluripotent stem cells (iPSCs) from fibroblasts of a DC patient carrying the most frequent mutation: DKC1 p.A353V. 31479877 2019
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674 2014
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498 2014
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation BEFREE Here, we confirm these findings in other primary X-DC patient cell lines coding for the most common (A353V dyskerin) and more clinically severe (K314R and A353V dyskerin) X-DC isoforms. 22058290 2012
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750 2011
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826 2011
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169 2010
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544 2009
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941 2009
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794 2008
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 15304085 2004
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 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: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 10583221 1999
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 10364516 1999
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 9590285 1998
dbSNP: rs121912288
rs121912288
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		T 0.820 CausalMutation CLINVAR