NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Cakut ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968949
Disease: Cakut
Cakut 		0.010 GeneticVariation disease BEFREE In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). 18371931 2008