| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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1.000 | CausalMutation | CLINVAR | Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. | 28796785 | 2017 |
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1.000 | CausalMutation | CLINVAR | [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. | 25748404 | 2015 |
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1.000 | CausalMutation | CLINVAR | Smarcal1 promotes double-strand-break repair by nonhomologous end-joining. | 26089390 | 2015 |
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1.000 | CausalMutation | CLINVAR | Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). | 26499378 | 2015 |
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1.000 | CausalMutation | CLINVAR | SIOD is caused by mutations in the gene SMARCAL1. | 24589093 | 2014 |
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1.000 | CausalMutation | CLINVAR | Identification and characterization of SMARCAL1 protein complexes. | 23671665 | 2013 |
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1.000 | CausalMutation | CLINVAR | Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? | 22998683 | 2012 |
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1.000 | CausalMutation | CLINVAR | Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. | 21914180 | 2011 |
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1.000 | CausalMutation | CLINVAR | SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. | 19127206 | 2009 |
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1.000 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. | 18805831 | 2009 |
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1.000 | CausalMutation | CLINVAR | The annealing helicase HARP protects stalled replication forks. | 19793864 | 2009 |
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1.000 | CausalMutation | CLINVAR | Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity. | 18974355 | 2008 |
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1.000 | CausalMutation | CLINVAR | Schimke immunoosseous dysplasia: suggestions of genetic diversity. | 17089404 | 2007 |
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1.000 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: a clinicopathological correlation. | 16840568 | 2007 |
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1.000 | CausalMutation | CLINVAR | Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. | 15880370 | 2005 |
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1.000 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 |
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1.000 | GeneticVariation | CLINVAR |