PLCZ1, phospholipase C zeta 1, 89869

N. diseases: 5; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310666
Disease: SPERMATOGENIC FAILURE 17
SPERMATOGENIC FAILURE 17 		0.500 GeneticVariation disease UNIPROT Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. 26721930 2016
CUI: C4310666
Disease: SPERMATOGENIC FAILURE 17
SPERMATOGENIC FAILURE 17 		0.500 Biomarker disease CTD_human
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 Biomarker phenotype BEFREE Collectively, our findings provide further evidence regarding the importance of PLCζ at oocyte activation and forms of male infertility where this is deficient. 22095789 2012
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE Plcz1 was not overexpressed in the ovaries of LT/Sv or in human germline ovarian tumours. 17933795 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 AlteredExpression disease BEFREE We cloned a newly identified gene, NYD-SP27, which has structural similarity to an isoform of phospholipase C. NYD-SP27 was expressed endogenously in human pancreatic-duct cells and upregulated in cystic fibrosis. 14697805 2003