DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
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 Biomarker disease BEFREE The biological importance of dyskerin is further outlined by the fact that its deficiency causes the X-linked dyskeratosis congenita disease, while its over-expression characterizes several types of cancers and has been proposed as prognostic marker. 24468621 2014
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease BEFREE Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 28979836 2017
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE CryptSplice interrogation of sequence data from six individuals with X-linked dyskeratosis congenita caused by an unknown disease-causing variant in DKC1 identified two splice-altering variants that were experimentally verified. 28475858 2017
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in both telomerase function and ribosomal RNA processing. 14758110 2004
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita. 15304085 2004
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease BEFREE These data demonstrate that this domain of dyskerin plays an important role in telomerase maintenance following cell insults such as cisplatin treatment, and in telomerase-defective cells in patients with X-DC. 18057229 2008
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease UNIPROT 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 Biomarker disease BEFREE Germline mutations in the tumour suppressor gene dyskeratosis congenit 1 (DKC1) cause the cancer prone syndrome called X-linked dyskeratosis congenita. 23348390 2013
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE Our findings provide the first evidence that dyskerin stability is regulated by SUMOylation and that mutations altering dyskerin SUMOylation can lead to defects in telomere maintenance that are characteristics of DC. 23660516 2013
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 GeneticVariation disease BEFREE The DKC1 gene, encoding dyskerin, is mutated in the multisystem disorder X-linked dyskeratosis congenita (X-DC). 23707062 2013
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease 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
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease GENOMICS_ENGLAND Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. 11379875 2001
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 AlteredExpression disease BEFREE We have previously found that expression of an internal fragment of dyskerin (GSE24.2) rescues telomerase activity in X-linked dyskeratosis congenita (X-DC) patient cells. 24987982 2014
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE To evaluate whether X-DC-associated dyskerin mutations affect the modification or function of ribosomal RNA, we studied five telomerase-rescued X-DC cells (X-DC(T) ). 24115260 2013
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE 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 GeneticVariation disease BEFREE DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. 12513020 2002
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease BEFREE Using an unbiased proteomics strategy, we discovered a specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1(m) mice and in cells from X-DC patients. 16690864 2006
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease 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
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 Biomarker disease CTD_human Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing. 22299032 2012
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 BEFREE Mutations in DKC1, encoding for dyskerin, a pseudouridine synthase that modifies rRNA and regulates telomerase activity, are associated with ribosomal dysfunction and increased cancer susceptibility in the human syndrome, X-linked dyskeratosis congenita (X-DC). 20587522 2010
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation disease BEFREE Germline mutation in the dyskerin gene (DKC1) is the cause of X-linked dyskeratosis congenita (DC). 24690175 2014
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 BEFREE Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498 2014