GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; N. variants: 7
Disease: Cutis Laxa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 GeneticVariation disease BEFREE A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. 27604556 2017
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 Biomarker disease HPO