distal sensory impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal reduction in sensation in the distal portions of the extremities. (Human Phenotype Ontology, HP_0002936)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002936
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Genes

62 genes associated with the distal sensory impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABHD12 abhydrolase domain containing 12
APTX aprataxin
ATL1 atlastin GTPase 1
ATP13A2 ATPase type 13A2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG3 BCL2-associated athanogene 3
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
CAV1 caveolin 1, caveolae protein, 22kDa
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
DDHD1 DDHD 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
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
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
KIF5A kinesin family member 5A
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MATR3 matrin 3
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
NAGA N-acetylgalactosaminidase, alpha-
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
REEP1 receptor accessory protein 1
SACS sacsin molecular chaperone
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SOX10 SRY (sex determining region Y)-box 10
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
TFG TRK-fused gene
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYMP thymidine phosphorylase
YARS tyrosyl-tRNA synthetase