ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515463
rs397515463
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.800 GeneticVariation UNIPROT ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
dbSNP: rs397515465
rs397515465
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.800 GeneticVariation UNIPROT ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
dbSNP: rs397515466
rs397515466
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.800 GeneticVariation UNIPROT ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. 18987736 2008
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). 15489334 2004
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. 12711671 2003
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. 12783937 2003
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. 12515253 2002
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. 12522685 2002
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. 11507049 2001
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT Role of HPC2/ELAC2 in hereditary prostate cancer. 11522646 2001
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT A candidate prostate cancer susceptibility gene at chromosome 17p. 11175785 2001
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.800 GeneticVariation UNIPROT Association of HPC2/ELAC2 genotypes and prostate cancer. 10986046 2000
dbSNP: rs119484086
rs119484086
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397515463
rs397515463
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515465
rs397515465
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397515466
rs397515466
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3809526
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		A 0.800 CausalMutation CLINVAR
dbSNP: rs119484087
rs119484087
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. 18987736 2008
dbSNP: rs752234492
rs752234492
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. 18987736 2008
dbSNP: rs770669443
rs770669443
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. 18987736 2008
dbSNP: rs119484087
rs119484087
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). 15489334 2004
dbSNP: rs752234492
rs752234492
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). 15489334 2004
dbSNP: rs770669443
rs770669443
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). 15489334 2004
dbSNP: rs119484087
rs119484087
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. 12783937 2003
dbSNP: rs119484087
rs119484087
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
CUI: C3539120
Disease:
PROSTATE CANCER, HEREDITARY, 2 		0.700 GeneticVariation UNIPROT A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. 12711671 2003