Disease: Thin basement membrane disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thin basement membrane disease
CUI: C0403440
Disease: Thin basement membrane disease
0.020 GeneticVariation BEFREE Recent evidence suggests that NPHS2-R229Q, a podocin polymorphism, may contribute to proteinuria in TBMN and to micro-albuminuria in the general population. 22228437 2012
Thin basement membrane disease
CUI: C0403440
Disease: Thin basement membrane disease
0.020 GeneticVariation BEFREE The early demonstration of R229</span>Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment. 18726620 2008