SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1, 50485
N. diseases: 109; N. variants: 22
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.710 | GeneticVariation | BEFREE | Finally, we show that the SIOD-associated mutation, R820H, present in motif VI results in loss of ATPase activity, and therefore, reduced response to DNA damage. | 29748240 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus. | 23630135 | 2013 | |||||||
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0.010 | GeneticVariation | BEFREE | The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations. | 16237566 | 2005 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? | 22998683 | 2012 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Identification and characterization of SMARCAL1 protein complexes. | 23671665 | 2013 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | HARP is an ATP-driven annealing helicase. | 18974355 | 2008 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. | 18805831 | 2009 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | The annealing helicase HARP protects stalled replication forks. | 19793864 | 2009 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Smarcal1 promotes double-strand-break repair by nonhomologous end-joining. | 26089390 | 2015 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. | 21914180 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: a clinicopathological correlation. | 16840568 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. | 11799392 | 2002 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? | 22998683 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. | 19127206 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke immunoosseous dysplasia: suggestions of genetic diversity. | 17089404 | 2007 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. | 18805831 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. | 28796785 | 2017 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. | 15880370 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). | 24589093 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |