| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. | 28796785 | 2017 | |||||
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 | |||||
Nephrotic Syndrome
|
0.700 | CausalMutation | CLINVAR | A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). | 24589093 | 2014 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? | 22998683 | 2012 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. | 21914180 | 2011 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. | 19127206 | 2009 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. | 18805831 | 2009 | |||||
Nephrotic Syndrome
|
0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. | 18805831 | 2009 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: a clinicopathological correlation. | 16840568 | 2007 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Schimke immunoosseous dysplasia: suggestions of genetic diversity. | 17089404 | 2007 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. | 15880370 | 2005 | |||||
Nephrotic Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||
Schimke immunoosseous dysplasia
|
0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | |||||
Atrioventricular Septal Defect
|
0.700 | CausalMutation | CLINVAR | ||||||||
Focal glomerulosclerosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Weight less than 3rd percentile
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Small for gestational age (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Microcephaly (physical finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital microcephaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Disproportionate short-trunk short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Schimke immunoosseous dysplasia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Steroid-resistant nephrotic syndrome
|
0.700 | CausalMutation | CLINVAR |