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: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.100 Biomarker phenotype HPO
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		0.100 Biomarker group HPO
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		0.100 Biomarker phenotype HPO
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 Biomarker phenotype HPO
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		0.100 Biomarker disease HPO
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		0.100 Biomarker disease HPO
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 AlteredExpression disease BEFREE Further, it is shown that upregulation of DKC1 was necessary for expansion of Glycophorin A+ (GLYA+) erythroblasts and sufficient to extend telomeres in erythroleukemia cells. 31413099 2019
CUI: C0280787
Disease: Adult Anaplastic Ependymoma
Adult Anaplastic Ependymoma 		0.010 AlteredExpression disease BEFREE Dyskerin was expressed in all cell lines and tissues apart from U87-MG and NHA cells and the recurrent anaplastic ependymoma tissue. 17196947 2007
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 AlteredExpression disease BEFREE Further, it is shown that upregulation of DKC1 was necessary for expansion of Glycophorin A+ (GLYA+) erythroblasts and sufficient to extend telomeres in erythroleukemia cells. 31413099 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C1844632
Disease: Anal mucosal leukoplakia
Anal mucosal leukoplakia 		0.100 Biomarker phenotype HPO
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma 		0.010 AlteredExpression disease BEFREE Dyskerin was expressed in all cell lines and tissues apart from U87-MG and NHA cells and the recurrent anaplastic ependymoma tissue. 17196947 2007
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 GeneticVariation disease CLINVAR
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.100 Biomarker group HPO
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		0.100 Biomarker phenotype HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.020 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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.020 Biomarker disease BEFREE The gene product, dyskerin, is homologous to a yeast protein involved in ribosomal RNA biogenesis, providing a unique insight into a cause of aplastic anemia. 10438713 1999
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		0.100 Biomarker phenotype HPO
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.100 Biomarker group HPO
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		0.100 Biomarker phenotype HPO
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		0.100 Biomarker phenotype HPO
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		0.100 Biomarker phenotype HPO