NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852923
rs137852923
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C0687120
Disease:
Nephronophthisis 		A 0.700 CausalMutation CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002