rs119473033, SMARCAL1

N. diseases: 11
Disease: Schimke immunoosseous dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 28796785 2017
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
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
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 24589093 2014
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 22998683 2012
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 21914180 2011
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 19127206 2009
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 18805831 2009
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Schimke immuno-osseous dysplasia: a clinicopathological correlation. 16840568 2007
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Schimke immunoosseous dysplasia: suggestions of genetic diversity. 17089404 2007
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. 15880370 2005
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 CausalMutation CLINVAR Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 11799392 2002
Schimke immunoosseous dysplasia
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
0.700 GeneticVariation CLINVAR