NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: Male infertility ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 Biomarker phenotype BEFREE Our finding of severe male infertility in a family with NPHP4 truncation is strongly supported by the mouse model and, to our knowledge, is the first reported male infertility phenotype in association with NPHP4 or any other nephrocystin in humans. 23574405 2014