ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.040 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: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.040 GeneticVariation disease BEFREE Cumulatively, these results suggest that alterations within the HPC2/ELAC2 gene play a limited role in genetic susceptibility to HPC. 11522646 2001
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.040 GeneticVariation disease BEFREE Furthermore, only the two previously reported missense changes (Ser217Leu and Ala541Thr) were identified by mutational analysis of all HPC2/ELAC exons in 93 probands with HPC. 11254448 2001
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.040 GeneticVariation disease BEFREE We conclude that ELAC2/HPC2 truncating mutations are rare in HPC, but that rare variants of the ELAC2/HPC2 require additional study as risk factors for PRCA in the general population. 11507049 2001