RAB28, RAB28, member RAS oncogene family, 9364

N. diseases: 16; N. variants: 5
Disease: Pallor of optic disc ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 CausalMutation phenotype CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532 2015
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 CausalMutation phenotype CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546 2013