Mitochondrial Abnormalities Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4020732
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Genes

81 genes associated with the disease Mitochondrial Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AFDN afadin, adherens junction formation factor
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AR androgen receptor
ATM ATM serine/threonine kinase
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
CAPN3 calpain 3, (p94)
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CREBBP CREB binding protein
CYBB cytochrome b-245, beta polypeptide
DCTN4 dynactin 4 (p62)
DES desmin
DISC1 disrupted in schizophrenia 1
DLD dihydrolipoamide dehydrogenase
ELF4 E74-like factor 4 (ets domain transcription factor)
FH fumarate hydratase
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GPX4 glutathione peroxidase 4
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
LRRK2 leucine-rich repeat kinase 2
MAPK7 mitogen-activated protein kinase 7
MAPK8 mitogen-activated protein kinase 8
MARCKS myristoylated alanine-rich protein kinase C substrate
MEFV Mediterranean fever
MFAP1 microfibrillar-associated protein 1
MFN2 mitofusin 2
MRPL28 mitochondrial ribosomal protein L28
MST1 macrophage stimulating 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NFE2L2 nuclear factor, erythroid 2-like 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH3 notch 3
NUP62 nucleoporin 62kDa
NXT1 nuclear transport factor 2-like export factor 1
PARL presenilin associated, rhomboid-like
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PHB2 prohibitin 2
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PSEN1 presenilin 1
SARDH sarcosine dehydrogenase
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDS serine dehydratase
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SORD sorbitol dehydrogenase
SQSTM1 sequestosome 1
STARD7 StAR-related lipid transfer (START) domain containing 7
SUB1 SUB1 homolog (S. cerevisiae)
SYP synaptophysin
TARDBP TAR DNA binding protein
TAZ tafazzin
TFEB transcription factor EB
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TP53 tumor protein p53
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
VCP valosin containing protein
WDR45 WD repeat domain 45
ZNF746 zinc finger protein 746