Disease: Alport Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
0.010 GeneticVariation BEFREE Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). 18726620 2008