ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group BEFREE We identified FEM1B and GNAI2 as good candidate genes for syndromic intellectual disability and confirmed the implication of ACTL6B in a neurodevelopmental disorder. 31036916 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group HPO