| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. | 28623282 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. | 25792466 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. | 25476427 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. | 22523910 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. | 21185603 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. | 19817875 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. | 15284122 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. | 11442475 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. | 8682510 | 1996 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. | 8528198 | 1995 |