DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: Aplasia Cutis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.120 GeneticVariation disease BEFREE NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort. 29924900 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.120 GeneticVariation disease BEFREE We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria. 28884918 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.120 Biomarker disease HPO