DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: Adams-Oliver syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372751467
rs372751467
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C4551482
Disease:
Adams-Oliver syndrome 1 		A 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs372751467
rs372751467
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C4551482
Disease:
Adams-Oliver syndrome 1 		A 0.700 GeneticVariation CLINVAR DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 26457590 2015
dbSNP: rs754138786
rs754138786
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C4551482
Disease:
Adams-Oliver syndrome 1 		0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448 2014
dbSNP: rs770364368
rs770364368
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
CUI: C4551482
Disease:
Adams-Oliver syndrome 1 		0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448 2014