ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		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
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker disease GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019