DOCK8, dedicator of cytokinesis 8, 81704

N. diseases: 112; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group CTD_human Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation. 18060736 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 GeneticVariation group LHGDN Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation. 18060736 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 GeneticVariation group BEFREE Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation. 18060736 2008