Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 CausalMutation CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093

2014
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831

2009
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002