| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | group | CLINVAR | Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. | 27868373 | 2017 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. | 27240540 | 2016 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 25052316 | 2015 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. | 25156961 | 2015 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. | 23756437 | 2014 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. | 23649928 | 2013 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. | 22366783 | 2012 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Clinical and molecular characterization of a second case of 7p22.1 microduplication. | 22495914 | 2012 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. | 16685646 | 2006 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. | 10411937 | 1999 |