Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
0.020 AlteredExpression group BEFREE As demonstrated by several independent methods, glaucomatous optic neuropathy was not associated with a significant change in the expression of NOS-2 in the retina, ONH, or optic nerve. 15790897 2005
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
0.010 AlteredExpression group BEFREE Our data support the idea that the upregulation of Hsp70 has a beneficial effect on the survival of injured RGCs, and the induction of this protein could be viewed as a potential neuroprotective strategy for optic neuropathies. 25427613 2015
Entrez Id: 339345
Gene Symbol: NANOS2
NANOS2
0.010 AlteredExpression group BEFREE As demonstrated by several independent methods, glaucomatous optic neuropathy was not associated with a significant change in the expression of NOS-2 in the retina, ONH, or optic nerve. 15790897 2005
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 AlteredExpression group BEFREE Inclusion criteria were unilateral chronic optic neuropathy and a work-up including contrast-enhanced MRI brain and orbits, CBC, ESR, CRP, ANA, CMIA, and ACE. 30760894 2019
Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1
0.010 AlteredExpression group BEFREE One product of aldose reductase is sorbitol, which has been linked to osmotic stress, oxidative stress and optic neuropathy, and sorbitol levels were increased in LHON cybrids. 15728653 2005
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.300 Biomarker group CTD_human Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations. 12721955 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. 15922297 2005
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. 18440284 2008
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group LHGDN Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. 12112086 2002
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.150 Biomarker group HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.120 Biomarker group LHGDN The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. 15505787 2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.120 Biomarker group HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.120 Biomarker group HPO
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.120 Biomarker group BEFREE Peak intraocular pressure (IOP) did not differ significantly between the two groups of families, while linkage to GLC1A conferred a highly increased risk of developing OAG and of having severe glaucomatous optic neuropathy. 9222961 1997
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.110 Biomarker group HPO
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.110 Biomarker group HPO
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.110 Biomarker group BEFREE Using a ribozyme designed to degrade the mRNA encoding a critical nuclear-encoded subunit gene of complex I (NDUFA1), we tested whether oxidative phosphorylation deficiency can recapitulate the optic neuropathy of mitochondrial disease. 12557286 2003
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.110 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker group BEFREE /aims: In normal tension glaucoma (NTG) factors other than raised intraocular pressure have a role in the pathogenesis of the optic neuropathy. 15031162 2004
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
0.100 Biomarker group HPO
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
0.100 Biomarker group HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
0.100 Biomarker group HPO
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
0.100 Biomarker group HPO