DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: Adams Oliver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GeneticVariation disease BEFREE Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. 29631299 2018
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GeneticVariation disease BEFREE DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 25824905 2015
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GeneticVariation disease BEFREE Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. 25091416 2014
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GeneticVariation disease BEFREE Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GermlineCausalMutation disease ORPHANET Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.440 GeneticVariation disease CLINVAR