ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 27769300 2016
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GermlineCausalMutation disease ORPHANET ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GeneticVariation disease UNIPROT ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. 21593607 2012
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CTD_human
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 CausalMutation disease CLINVAR
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GeneticVariation disease CLINVAR
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease GENOMICS_ENGLAND Germline genetic profiling in prostate cancer: latest developments and potential clinical applications. 28031937 2016
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 GeneticVariation disease BEFREE Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations. 23141781 2013
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 SusceptibilityMutation disease ORPHANET Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations. 23141781 2013
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease BEFREE The RNASEL and HPC2/ELAC2 genes have been implicated in hereditary prostate cancer. 18767027 2008
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 GeneticVariation disease BEFREE These include the ELAC2 (HPC2), MSR1, and RNASEL (HPC1) genes that have germline mutations in familial prostate cancer; AR, ATBF1, EPHB2 (ERK), KLF6, mitochondria DNA, p53, PTEN, and RAS that have somatic mutations in sporadic prostate cancer; AR, BRCA1, BRCA2, CHEK2 (RAD53), CYP17, CYP1B1, CYP3A4, GSTM1, GSTP1, GSTT1, PON1, SRD5A2, and VDR that have germline genetic variants associated with either hereditary and/or sporadic prostate cancer; and ANXA7 (ANX7), KLF5, NKX3-1 (NKX3.1), CDKN1B (p27), and MYC that have genomic copy number changes affecting gene function. 16267836 2006
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease BEFREE To date, germline mutations have been found in three candidate genes for hereditary prostate cancer: ELAC2 at 17p11, RNASEL at 1q25 and MSR1 at 8p22. 15714208 2005
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 GeneticVariation disease BEFREE Our results indicate that Thr allele at 541 in HPC2/ELAC2 has strong significance in the predisposition of sporadic Pca in Japan. 15368467 2004
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease BEFREE The HPC2/ELAC2 gene on chromosome 17p11 was identified as a candidate gene for hereditary prostate cancer (HPC) susceptibility. 14625808 2003
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 GeneticVariation disease BEFREE An epidemiological study was done in sporadic PCa (n=98) and BPH (n=143) using 1 novel (Ser627Leu) and 2 previously described polymorphisms of the HPC2/ELAC2 gene. 12949798 2003
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 GeneticVariation disease BEFREE Loss of heterozygosity of the putative prostate cancer susceptibility gene HPC2/ELAC2 is uncommon in sporadic and familial prostate cancer. 11751379 2001
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease BEFREE To investigate the relationship between HPC2/ELAC2 and prostate cancer risk, we performed the following analyses: (1) a linkage study of six markers in and around the HPC2/ELAC2 gene at 17p11 in 159 pedigrees with hereditary prostate cancer (HPC); (2) a mutation-screening analysis of all coding exons of the gene in 93 probands with HPC; (3) family-based and population-based association study of common HPC2/ELAC2 missense variants in 159 probands with HPC, 249 patients with sporadic prostate cancer, and 222 unaffected male control subjects. 11254448 2001
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.600 Biomarker disease BEFREE Role of HPC2/ELAC2 in hereditary prostate cancer. 11522646 2001
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease BEFREE Nuclear ELAC2 staining was observed in 60.8% of prostate cancers. 31452838 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 GeneticVariation disease BEFREE One rare missense variant associated with the occurrence of prostate cancer (p.Arg781His) impairs the mitochondrial RNase Z activity of ELAC2, suggesting a functional link between tumorigenesis and mitochondrial RNA metabolism. 31045291 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 GeneticVariation disease BEFREE In our study, we investigated the potential association between KLK3, AR, RNASEL, MSR1, and ELAC2 polymorphisms, expression patterns, exposure to environmental factors, and PCa in a Spanish cohort. 27318894 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 GeneticVariation disease BEFREE Our study provides the proof-of-principle that some of the genetic variants (such as rs486907, rs627928 and rs2127565) in genes RNASEL, MSR1 and ELAC2 can be used as predictors of aggressiveness and progression of PCa. 26251261 2015