Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker HPO

Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.440 Biomarker HPO

Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.440 GeneticVariation CLINVAR

Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.420 Biomarker HPO

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.410 Biomarker HPO

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker HPO

Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker HPO

Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker HPO

Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker HPO

Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 Biomarker HPO

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.400 GeneticVariation CLINVAR

Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.200 Biomarker HPO

Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.160 Biomarker HPO

Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.160 Biomarker HPO

Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker HPO

Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker HPO

Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 Biomarker HPO

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.130 Biomarker HPO

Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker HPO

Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker HPO

Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker HPO