charcot-marie-tooth disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

41 genes involed in the disease charcot-marie-tooth disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AARS alanyl-tRNA synthetase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DNM2 dynamin 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EGR2 early growth response 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
GARS glycyl-tRNA synthetase
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
INF2 inverted formin, FH2 and WH2 domain containing
KARS lysyl-tRNA synthetase
KIF1B kinesin family member 1B
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
TRIM2 tripartite motif containing 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum)
YARS tyrosyl-tRNA synthetase