×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
CLINVAR
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
25159689
2015
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
Biomarker
disease
GENOMICS_ENGLAND
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
25657044
2015
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
CLINVAR
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
26190011
2015
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
CLINVAR
Costeff syndrome: clinical features and natural history.
25201222
2014
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
CLINVAR
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
24136862
2013
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
GeneticVariation
disease
BEFREE
The molecular findings in OPA3 are also reviewed, including mutations in OPA3 that result in autosomal dominant optic atrophy and cataract (ADOAC ).
18985435
2008
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
GermlineCausalMutation
disease
ORPHANET
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract .
15342707
2004
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
CLINVAR
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract .
15342707
2004
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
GeneticVariation
disease
UNIPROT
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract .
15342707
2004
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
CausalMutation
disease
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
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
80207
Gene Symbol:
OPA3
OPA3
0.710
GeneticVariation
disease
CLINVAR