Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 CausalMutation group CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093 2014
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 CausalMutation group CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 CausalMutation group CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.100 Biomarker group HPO