NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Klippel-Trenaunay-Weber 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: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome 		0.010 GeneticVariation BEFREE Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 28059119 2017