Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
AUH |
AU RNA binding protein/enoyl-CoA hydratase |
Mapped by significant region |
|
CA5A |
carbonic anhydrase VA, mitochondrial |
Mapped by significant region |
TAS[8356065]
|
TP53AIP1 |
tumor protein p53 regulated apoptosis inducing protein 1 |
Mapped by significant region |
TAS[11030628]
|
GCSH |
glycine cleavage system protein H (aminomethyl carrier) |
Mapped by significant region |
|
TXN |
thioredoxin |
Mapped by significant region |
|
EFHA1 |
EF-hand domain family, member A1 |
Mapped by significant region |
|
NOX4 |
NADPH oxidase 4 |
Mapped by significant region |
|
SECISBP2 |
SECIS binding protein 2 |
Mapped by significant region |
|
MAPK3 |
mitogen-activated protein kinase 3 |
Mapped by CNV |
TAS[19565474]
|
CYBA |
cytochrome b-245, alpha polypeptide |
Mapped by significant region |
|
TIMM10 |
translocase of inner mitochondrial membrane 10 homolog (yeast) |
Mapped by significant region |
|
CCDC90B |
coiled-coil domain containing 90B |
Mapped by significant region |
|
CPT1A |
carnitine palmitoyltransferase 1A (liver) |
Mapped by CNV; Mapped by significant region |
|
STAP1 |
signal transducing adaptor family member 1 |
Mapped by significant region |
IDA[17936702]
|
LDHD |
lactate dehydrogenase D |
Mapped by significant region |
|
PRDX5 |
peroxiredoxin 5 |
Mapped by significant region |
IDA[10751410]
|
OXCT1 |
3-oxoacid CoA transferase 1 |
Mapped by significant region |
NAS[10964512]
|
GBF1 |
golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
Mapped by PBA pathway |
|
RAB1B |
RAB1B, member RAS oncogene family |
Mapped by significant region |
|
ACAT1 |
acetyl-CoA acetyltransferase 1 |
Mapped by CNV; Mapped by significant region |
|
RPUSD4 |
RNA pseudouridylate synthase domain containing 4 |
Mapped by significant region |
|
GLYAT |
glycine-N-acyltransferase |
Mapped by LD-proxy; Mapped by significant region |
|
WWOX |
WW domain containing oxidoreductase |
Mapped by significant region |
|
TOMM7 |
translocase of outer mitochondrial membrane 7 homolog (yeast) |
Mapped by CNV; Mapped by significant region |
IDA[12198123]
|
REXO2 |
REX2, RNA exonuclease 2 homolog (S. cerevisiae) |
Mapped by significant region |
|
PLA2G6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
Mapped by PBA pathway |
|
MRPS14 |
mitochondrial ribosomal protein S14 |
Mapped by significant region |
|
CHRDL2 |
chordin-like 2 |
Mapped by significant region |
|
DDX23 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 |
Mapped by PBA pathway |
|
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
Mapped by significant region |
TAS[15779907]
|
MRRF |
mitochondrial ribosome recycling factor |
Mapped by significant region |
|
IMMP2L |
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
Mapped by CNV |
|
DGAT2 |
diacylglycerol O-acyltransferase 2 |
Mapped by significant region |
|
TCIRG1 |
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
Mapped by significant region |
|
GPAT2 |
glycerol-3-phosphate acyltransferase 2, mitochondrial |
Mapped by LD-proxy |
NAS[18658143]
|
PTS |
6-pyruvoyltetrahydropterin synthase |
Mapped by significant region |
|
GLYATL2 |
glycine-N-acyltransferase-like 2 |
Mapped by significant region |
|
GLYATL1 |
glycine-N-acyltransferase-like 1 |
Mapped by significant region |
|
CKMT1A |
creatine kinase, mitochondrial 1A |
Mapped by LD-proxy |
TAS[2914937]
|
AIFM3 |
apoptosis-inducing factor, mitochondrion-associated, 3 |
Mapped by CNV |
|
TCF25 |
transcription factor 25 (basic helix-loop-helix) |
Mapped by significant region |
|
FOXRED1 |
FAD-dependent oxidoreductase domain containing 1 |
Mapped by significant region |
|
NDUFS8 |
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) |
Mapped by significant region |
|
LYPLA1 |
lysophospholipase I |
Mapped by PBA pathway |
|
SGK1 |
serum/glucocorticoid regulated kinase 1 |
Mapped by significant region |
|
ATP5L |
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G |
Mapped by significant region |
|
BCS1L |
BCS1-like (S. cerevisiae) |
Mapped by significant region |
IDA[18628306]
|
DRG2 |
developmentally regulated GTP binding protein 2 |
Mapped by significant region |
|
SRP19 |
signal recognition particle 19kDa |
Mapped by LD-proxy |
|
NDUFS3 |
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) |
Mapped by LD-proxy |
NAS[9647766]
|
ZBTB9 |
zinc finger and BTB domain containing 9 |
Mapped by LD-proxy |
|
SPG7 |
spastic paraplegia 7 (pure and complicated autosomal recessive) |
Mapped by significant region |
TAS[9635427]
|
HIBADH |
3-hydroxyisobutyrate dehydrogenase |
Mapped by significant region |
|
TMEM126A |
transmembrane protein 126A |
Mapped by significant region |
|
GLUL |
glutamate-ammonia ligase |
Mapped by significant region |
|
RNASEL |
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) |
Mapped by significant region |
|
NDUFAF2 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 |
Mapped by CNV |
|
TPP1 |
tripeptidyl peptidase I |
Mapped by CNV |
|
FTH1 |
ferritin, heavy polypeptide 1 |
Mapped by significant region |
|
HDDC2 |
HD domain containing 2 |
Mapped by significant region |
|
AATK |
apoptosis-associated tyrosine kinase |
Mapped by LD-proxy |
|
PTCD3 |
Pentatricopeptide repeat domain 3 |
Mapped by CNV |
IDA[19427859]
|
FASTKD5 |
FAST kinase domains 5 |
Mapped by CNV |
|
C5orf54 |
chromosome 5 open reading frame 54 |
Mapped by significant region |
|
POLD3 |
polymerase (DNA-directed), delta 3, accessory subunit |
Mapped by significant region |
|
ACSF3 |
acyl-CoA synthetase family member 3 |
Mapped by CNV; Mapped by significant region |
|
ACP6 |
acid phosphatase 6, lysophosphatidic |
Mapped by CNV |
|
IREB2 |
iron-responsive element binding protein 2 |
Mapped by LD-proxy |
|
NDUFA8 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa |
Mapped by significant region |
|
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial (putative) |
Mapped by significant region |
IDA[19805282]
|
PXMP2 |
peroxisomal membrane protein 2, 22kDa |
Mapped by CNV |
|
MTG1 |
mitochondrial GTPase 1 homolog (S. cerevisiae) |
Mapped by CNV |
|
AGXT2 |
alanine--glyoxylate aminotransferase 2 |
Mapped by significant region |
|
MTHFD2L |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like |
Mapped by CNV |
|
ACOT13 |
acyl-CoA thioesterase 13 |
Mapped by LD-proxy |
|
ECHS1 |
enoyl CoA hydratase, short chain, 1, mitochondrial |
Mapped by CNV |
TAS[16130169]
|
TBC1D15 |
TBC1 domain family, member 15 |
Mapped by LD-proxy |
|
NUBPL |
nucleotide binding protein-like |
Mapped by significant region |
IDA[19752196]
|
PPARGC1B |
peroxisome proliferator-activated receptor gamma, coactivator 1 beta |
Mapped by PBA pathway |
|
NMNAT3 |
nicotinamide nucleotide adenylyltransferase 3 |
Mapped by CNV |
IDA[16118205]
|
CYP2E1 |
cytochrome P450, family 2, subfamily E, polypeptide 1 |
Mapped by CNV |
|
FIBP |
fibroblast growth factor (acidic) intracellular binding protein |
Mapped by significant region |
TAS[9806903]
|
ME3 |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
Mapped by significant region |
TAS[7818469]
|
ACSM2B |
acyl-CoA synthetase medium-chain family member 2B |
Mapped by significant region |
NAS[19634011]
|
SOD3 |
superoxide dismutase 3, extracellular |
Mapped by CNV |
|
ALDH1L1 |
aldehyde dehydrogenase 1 family, member L1 |
Mapped by LD-proxy; Mapped by literature SNP |
|
UQCRC2 |
ubiquinol-cytochrome c reductase core protein II |
Mapped by CNV; Mapped by significant region |
|
NARS |
asparaginyl-tRNA synthetase |
Mapped by significant region |
|
ACSM2A |
acyl-CoA synthetase medium-chain family member 2A |
Mapped by significant region |
NAS[19634011]
|
GOLPH3 |
golgi phosphoprotein 3 (coat-protein) |
Mapped by significant region |
IDA[16263763]
|
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
Mapped by CNV |
|
NUDT8 |
nudix (nucleoside diphosphate linked moiety X)-type motif 8 |
Mapped by significant region |
|
SHMT1 |
serine hydroxymethyltransferase 1 (soluble) |
Mapped by significant region |
|
BAD |
BCL2-associated agonist of cell death |
Mapped by significant region |
|
BNIP3 |
BCL2/adenovirus E1B 19kDa interacting protein 3 |
Mapped by CNV |
TAS[9973195]
|
PECR |
peroxisomal trans-2-enoyl-CoA reductase |
Mapped by significant region |
|
PYCARD |
PYD and CARD domain containing |
Mapped by CNV |
IDA[14730312]
|
TRNT1 |
tRNA nucleotidyl transferase, CCA-adding, 1 |
Mapped by CNV |
|
NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial (putative) |
Mapped by significant region |
|
CHCHD3 |
coiled-coil-helix-coiled-coil-helix domain containing 3 |
Mapped by CNV |
|
ABCB6 |
ATP-binding cassette, sub-family B (MDR/TAP), member 6 |
Mapped by significant region |
IDA[10837493,18279659]
|
TMEM223 |
transmembrane protein 223 |
Mapped by significant region |
|
HDHD3 |
haloacid dehalogenase-like hydrolase domain containing 3 |
Mapped by significant region |
|
SARS |
seryl-tRNA synthetase |
Mapped by CNV |
|
PERP |
PERP, TP53 apoptosis effector |
Mapped by significant region |
|
HINT3 |
histidine triad nucleotide binding protein 3 |
Mapped by significant region |
|
RPS15A |
ribosomal protein S15a |
Mapped by significant region |
|
HEBP2 |
heme binding protein 2 |
Mapped by significant region |
|
MLYCD |
malonyl-CoA decarboxylase |
Mapped by CNV; Mapped by significant region |
|
RIPK3 |
receptor-interacting serine-threonine kinase 3 |
Mapped by significant region |
|
FASTK |
Fas-activated serine/threonine kinase |
Mapped by LD-proxy; Mapped by literature SNP |
|
PTPMT1 |
protein tyrosine phosphatase, mitochondrial 1 |
Mapped by LD-proxy |
|
PC |
pyruvate carboxylase |
Mapped by significant region |
IDA[16729965]
|
CTU2 |
cytosolic thiouridylase subunit 2 homolog (S. pombe) |
Mapped by significant region |
|
MAPK1 |
mitogen-activated protein kinase 1 |
Mapped by LD-proxy |
TAS[19565474]
|
COX4I1 |
cytochrome c oxidase subunit IV isoform 1 |
Mapped by significant region |
|
BCO2 |
beta-carotene oxygenase 2 |
Mapped by significant region |
|
SARDH |
sarcosine dehydrogenase |
Mapped by LD-proxy |
|
THG1L |
tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) |
Mapped by significant region |
|
DCPS |
decapping enzyme, scavenger |
Mapped by significant region |
|
CRYM |
crystallin, mu |
Mapped by significant region |
|
YKT6 |
YKT6 v-SNARE homolog (S. cerevisiae) |
Mapped by PBA pathway |
|
MRPL50 |
mitochondrial ribosomal protein L50 |
Mapped by significant region |
|
DNAJC30 |
DnaJ (Hsp40) homolog, subfamily C, member 30 |
Mapped by LD-proxy |
|
LIPT2 |
lipoyl(octanoyl) transferase 2 (putative) |
Mapped by significant region |
|
ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
Mapped by significant region |
|
TXNRD2 |
thioredoxin reductase 2 |
Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP |
|
PMAIP1 |
phorbol-12-myristate-13-acetate-induced protein 1 |
Mapped by significant region |
IDA[15705586]
|
DNAJC4 |
DnaJ (Hsp40) homolog, subfamily C, member 4 |
Mapped by significant region |
|
GPRC5C |
G protein-coupled receptor, family C, group 5, member C |
Mapped by CNV |
|
CCDC136 |
coiled-coil domain containing 136 |
Mapped by LD-proxy |
|
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
Mapped by significant region |
|
MACROD1 |
MACRO domain containing 1 |
Mapped by significant region |
|
MAPK9 |
mitogen-activated protein kinase 9 |
Mapped by CNV |
|
LYRM1 |
LYR motif containing 1 |
Mapped by significant region |
|
FDX1 |
ferredoxin 1 |
Mapped by significant region |
|
BLID |
BH3-like motif containing, cell death inducer |
Mapped by significant region |
|
UCP3 |
uncoupling protein 3 (mitochondrial, proton carrier) |
Mapped by CNV; Mapped by significant region |
TAS[9180264]
|
PAK7 |
p21 protein (Cdc42/Rac)-activated kinase 7 |
Mapped by CNV |
|
MRPL21 |
mitochondrial ribosomal protein L21 |
Mapped by CNV; Mapped by significant region |
|
PON2 |
paraoxonase 2 |
Mapped by PBA pathway |
|
C22orf29 |
chromosome 22 open reading frame 29 |
Mapped by CNV |
|
AMACR |
alpha-methylacyl-CoA racemase |
Mapped by significant region |
IDA[11060344]
|
AKAP10 |
A kinase (PRKA) anchor protein 10 |
Mapped by significant region |
|
MRPL16 |
mitochondrial ribosomal protein L16 |
Mapped by significant region |
|
PPM1K |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
Mapped by CNV |
|
CLPB |
ClpB caseinolytic peptidase B homolog (E. coli) |
Mapped by significant region |
|
ACACA |
acetyl-CoA carboxylase alpha |
Mapped by CNV |
|
BCKDK |
branched chain ketoacid dehydrogenase kinase |
Mapped by CNV |
TAS[11839747]
|
SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
Mapped by significant region |
|
PNKD |
paroxysmal nonkinesigenic dyskinesia |
Mapped by significant region |
|
KARS |
lysyl-tRNA synthetase |
Mapped by significant region |
IDA[10952987]
|
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
Mapped by significant region |
TAS[2302193]
|
SHMT2 |
serine hydroxymethyltransferase 2 (mitochondrial) |
Mapped by CNV |
|
MRM1 |
mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) |
Mapped by CNV |
|
ZDHHC8 |
zinc finger, DHHC-type containing 8 |
Mapped by CNV |
|
SLMO1 |
slowmo homolog 1 (Drosophila) |
Mapped by CNV |
|
ACAD10 |
acyl-CoA dehydrogenase family, member 10 |
Mapped by LD-proxy |
|
GHR |
growth hormone receptor |
Mapped by CNV; Mapped by significant region |
|
HSDL1 |
hydroxysteroid dehydrogenase like 1 |
Mapped by CNV; Mapped by significant region |
|
METTL12 |
methyltransferase like 12 |
Mapped by significant region |
|
RAI14 |
retinoic acid induced 14 |
Mapped by significant region |
|
OPA1 |
optic atrophy 1 (autosomal dominant) |
Mapped by CNV |
IDA[17545159]
|
HSDL2 |
hydroxysteroid dehydrogenase like 2 |
Mapped by significant region |
|
FEN1 |
flap structure-specific endonuclease 1 |
Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region |
IDA[18995831]
|
CRYAB |
crystallin, alpha B |
Mapped by significant region |
|
NAPG |
N-ethylmaleimide-sensitive factor attachment protein, gamma |
Mapped by PBA pathway |
IDA[11278501]
|
QTRTD1 |
queuine tRNA-ribosyltransferase domain containing 1 |
Mapped by LD-proxy |
|
GSTP1 |
glutathione S-transferase pi 1 |
Mapped by significant region |
|
NT5M |
5',3'-nucleotidase, mitochondrial |
Mapped by significant region |
TAS[10899995]
|