Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.410 GeneticVariation disease BEFREE Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.410 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.410 Biomarker disease GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.410 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
0.410 CausalMutation disease CLINVAR