Merrf Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_310)
External Link https://www.disgenet.org/browser/0/1/0/C0162672
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Genes

39 genes associated with the disease Merrf Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AFG3L2 AFG3-like AAA ATPase 2
AHSG alpha-2-HS-glycoprotein
CA8 carbonic anhydrase VIII
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
COQ8A coenzyme Q8A
COQ9 coenzyme Q9
COX2
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CSTB cystatin B (stefin B)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FGF21 fibroblast growth factor 21
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
MMP1 matrix metallopeptidase 1
MT-ATP6 ATP synthase F0 subunit 6
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
NAE1 NEDD8 activating enzyme E1 subunit 1
OPA1 optic atrophy 1 (autosomal dominant)
PLXNA2 plexin A2
POLG polymerase (DNA directed), gamma
PRKCD protein kinase C, delta
PRPF6 pre-mRNA processing factor 6
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RFX3 regulatory factor X, 3 (influences HLA class II expression)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SOD2 superoxide dismutase 2, mitochondrial
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
TK2 thymidine kinase 2, mitochondrial
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TPP1 tripeptidyl peptidase I
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase