leber hereditary optic neuropathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_705)
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Genes

78 genes co-occuring with the disease leber hereditary optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.8459
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1.79435
NPTX2 neuronal pentraxin II 1.72684
MRPL47 mitochondrial ribosomal protein L47 1.32017
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 1.29134
TMEM126A transmembrane protein 126A 1.24602
OPA1 optic atrophy 1 (autosomal dominant) 1.20656
RHBDL1 rhomboid, veinlet-like 1 (Drosophila) 1.17894
OPN4 opsin 4 1.14942
PARL presenilin associated, rhomboid-like 1.14009
TST thiosulfate sulfurtransferase (rhodanese) 1.12825
SLC7A14 solute carrier family 7, member 14 1.04293
CRYZ crystallin, zeta (quinone reductase) 0.947852
TFAM transcription factor A, mitochondrial 0.936214
PRKY protein kinase, Y-linked, pseudogene 0.920085
NPS neuropeptide S 0.905265
NDC1 NDC1 transmembrane nucleoporin 0.869596
PRKX protein kinase, X-linked 0.835198
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 0.824948
OPTN optineurin 0.821667
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 0.806077
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.718846
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.642615
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.635921
GCAT glycine C-acetyltransferase 0.630813
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.620226
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 0.617094
MT-ATP8 ATP synthase F0 subunit 8 0.56722
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.538893
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.500379
MFN2 mitofusin 2 0.494648
KLHL17 kelch-like family member 17 0.488549
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.474498
CS citrate synthase 0.471846
SPRED1 sprouty-related, EVH1 domain containing 1 0.470711
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 0.457864
SOD2 superoxide dismutase 2, mitochondrial 0.43941
WFS1 Wolfram syndrome 1 (wolframin) 0.434524
PRPH2 peripherin 2 (retinal degeneration, slow) 0.431519
DLD dihydrolipoamide dehydrogenase 0.419142
WDR36 WD repeat domain 36 0.418768
CRYBB2 crystallin, beta B2 0.408292
HVCN1 hydrogen voltage gated channel 1 0.405305
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.404931
MFN1 mitofusin 1 0.401572
AQP4 aquaporin 4 0.382594
ENDOG endonuclease G 0.357814
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide 0.346042
KLK8 kallikrein-related peptidase 8 0.343473
SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 0.33944
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.333583
PAX6 paired box 6 0.333583
IMMT inner membrane protein, mitochondrial 0.332852
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.325916
FXN frataxin 0.32373
SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 0.309566
CHM choroideremia (Rab escort protein 1) 0.246448
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.238752
CRYAA crystallin, alpha A 0.225229
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.218715
NDP Norrie disease (pseudoglioma) 0.218715
ASS1 argininosuccinate synthase 1 0.213283
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.204923
PHB prohibitin 0.203933
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.192344
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 0.189244
GSTTP1 glutathione S-transferase theta pseudogene 1 0.18591
GSTT1 glutathione S-transferase theta 1 0.185612
MYO7A myosin VIIA 0.177576
PC pyruvate carboxylase 0.177301
PML promyelocytic leukemia 0.174881
GSR glutathione reductase 0.168617
RPGR retinitis pigmentosa GTPase regulator 0.168381
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.163938
TOP3A topoisomerase (DNA) III alpha 0.162707
UCN urocortin 0.162707
ACO2 aconitase 2, mitochondrial 0.161912
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.160203