DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: ADAMS-OLIVER SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 GeneticVariation disease BEFREE Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. 30898718 2019
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 Biomarker disease GENOMICS_ENGLAND DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 25824905 2015
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 Biomarker disease GENOMICS_ENGLAND Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 GeneticVariation disease CLINVAR Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.410 CausalMutation disease CLINVAR