Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.310 GeneticVariation disease BEFREE Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. 30656450 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.310 Biomarker disease GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019