NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Salcedo syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115308424
rs115308424
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403548
Disease:
Salcedo syndrome 		0.010 GeneticVariation BEFREE Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). 28059119 2017