Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 28796785

2017
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 26499378

2015
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
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
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		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
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683

2012
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 21914180

2011
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831

2009
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 19127206

2009
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831

2009
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke immunoosseous dysplasia: suggestions of genetic diversity. 17089404

2007
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: a clinicopathological correlation. 16840568

2007
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. 15880370

2005
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392

2002
dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR