GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; N. variants: 7
Disease: Progeroid facial appearance ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		0.400 Biomarker phenotype GENOMICS_ENGLAND Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. 28807865 2017
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		0.400 Biomarker phenotype HPO