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: C0027651
Disease: Neoplasms
Neoplasms
0.180 Biomarker group BEFREE The increased staining of DKC1 is related to the World Health Organization stages of tumors. 30847721 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 AlteredExpression group BEFREE Positive DKC1 expression tends to significantly be associated with unfavorable clinicopathological characteristics such as tumor diameter >7 cm (P=0.002) and tumor‑node‑metastasis (TNM) stage III or IV (P<0.001). 29901172 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 AlteredExpression group BEFREE For all patients, no significant difference was found in mRNA expressions of human telomerase reverse transcriptase and dyskerin (p>0.05), although their levels in tumour tissues were found to be higher than in normal tissues. 28443573 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 GeneticVariation group BEFREE direct DKC1 gene mutations are not a frequent event in tumourigenesis, at least in the tumour types investigated and for the DKC1 gene portions considered in this study. 23348390 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 AlteredExpression group BEFREE We also found that miR-150 directly downregulated expression of DKC1 and AKT2, reduced levels of phosphorylated AKT(ser473/4) and increased levels of tumor suppressors such as Bim and p53. 21502955 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 Biomarker group BEFREE Dyskerin is required for tumor cell growth through mechanisms that are independent of its role in telomerase and only partially related to its function in precursor rRNA processing. 21480387 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 Biomarker group BEFREE In a mouse model for X-DC, impairments in DKC1 function affected the translation of specific mRNAs harboring internal ribosomal entry site (IRES) elements, including the tumor suppressor, p27. 20587522 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 AlteredExpression group BEFREE Our findings suggest that a dyskerin-mediated mechanism of p53 inactivation may occur in a subset of human tumors. 20501855 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.180 Biomarker group HPO