NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.020 GeneticVariation disease BEFREE NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. 23574405 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.020 GeneticVariation disease BEFREE In addition, the RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4. 17558409 2007