RAB28, RAB28, member RAS oncogene family, 9364

N. diseases: 16; N. variants: 5
Disease: CONE-ROD DYSTROPHY 18 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751163782
rs751163782
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
CUI: C3809299
Disease:
CONE-ROD DYSTROPHY 18 		C 0.700 CausalMutation CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532 2015
dbSNP: rs751163782
rs751163782
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
CUI: C3809299
Disease:
CONE-ROD DYSTROPHY 18 		C 0.700 CausalMutation CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546 2013