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: 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