| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.320 | GeneticVariation | disease | BEFREE | Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. | 28778787 | 2017 | ||||
|
0.320 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.320 | GeneticVariation | disease | BEFREE | Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. | 23934111 | 2013 | ||||
|
0.320 | Biomarker | disease | GENOMICS_ENGLAND | Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. | 22492991 | 2012 |