Disease: Nephrotic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease:
Nephrotic Syndrome 		T 0.700 CausalMutation CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093 2014
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease:
Nephrotic Syndrome 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
dbSNP: rs119473033
rs119473033
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease:
Nephrotic Syndrome 		T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002