rs119473033
|
|
Atrioventricular Septal Defect
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Congenital microcephaly
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Disproportionate short-trunk short stature
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Focal glomerulosclerosis
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Microcephaly (physical finding)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Nephrotic Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
rs119473033
|
|
Nephrotic Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
|
24589093 |
2014 |
rs119473033
|
|
Nephrotic Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
|
18805831 |
2009 |
rs119473033
|
|
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 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
17089404 |
2007 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
|
18805831 |
2009 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Schimke immuno-osseous dysplasia: a clinicopathological correlation.
|
16840568 |
2007 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
|
15880370 |
2005 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
|
28796785 |
2017 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
rs119473033
|
|
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 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
|
19127206 |
2009 |
rs119473033
|
|
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 |
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs119473033
|
|
Schimke immunoosseous dysplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
|
21914180 |
2011 |
rs119473033
|
|
Short stature
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Small for gestational age (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Steroid-resistant nephrotic syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs119473033
|
|
Weight less than 3rd percentile
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|