Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356523
rs80356523
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C1833809
Disease:
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 26190011 2015
dbSNP: rs80356523
rs80356523
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C1833809
Disease:
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR Costeff syndrome: clinical features and natural history. 25201222 2014
dbSNP: rs80356523
rs80356523
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C1833809
Disease:
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 11668429 2001