NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Nephrosis, congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		0.010 GeneticVariation disease BEFREE Mutations of the LAMB2 and NPHP1 are present in infants with isolated CNS. 27004562 2016