DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: X-Linked Dyskeratosis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC. 10583221 1999
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease UNIPROT It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined. 10364516 1999
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease GENOMICS_ENGLAND Dyskeratosis Congenita (DC) Registry: identification of new features of DC. 9886310 1998
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease UNIPROT X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 9590285 1998
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease GENOMICS_ENGLAND X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 9590285 1998
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease CLINVAR
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease GENOMICS_ENGLAND