Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 GeneticVariation 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker HPO

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 CausalMutation CLINVAR