sensory impairment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. (Human Phenotype Ontology, HP_0003474)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003474
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Genes

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

Symbol Name
AARS alanyl-tRNA synthetase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABHD12 abhydrolase domain containing 12
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AMN amnion associated transmembrane protein
APTX aprataxin
ATL1 atlastin GTPase 1
ATP13A2 ATPase type 13A2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
BAG3 BCL2-associated athanogene 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
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)
CUBN cubilin (intrinsic factor-cobalamin receptor)
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
FBN1 fibrillin 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FXN frataxin
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDAP1 ganglioside induced differentiation associated protein 1
GIF gastric intrinsic factor (vitamin B synthesis)
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GMPPA GDP-mannose pyrophosphorylase A
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GPI glucose-6-phosphate isomerase
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IGF2 insulin-like growth factor 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INF2 inverted formin, FH2 and WH2 domain containing
KARS lysyl-tRNA synthetase
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
KIF1B kinesin family member 1B
KIF5A kinesin family member 5A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LIFR leukemia inhibitory factor receptor alpha
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
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
NAGA N-acetylgalactosaminidase, alpha-
NDN necdin, melanoma antigen (MAGE) family member
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NGF nerve growth factor (beta polypeptide)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPA1 optic atrophy 1 (autosomal dominant)
PDYN prodynorphin
PGM3 phosphoglucomutase 3
PHYH phytanoyl-CoA 2-hydroxylase
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
PRKCG protein kinase C, gamma
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
RAI1 retinoic acid induced 1
REEP1 receptor accessory protein 1
RNF170 ring finger protein 170
RTN2 reticulon 2
SACS sacsin molecular chaperone
SAR1B secretion associated, Ras related GTPase 1B
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
TBP TATA box binding protein
TFG TRK-fused gene
TPP1 tripeptidyl peptidase I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYMP thymidine phosphorylase
WFS1 Wolfram syndrome 1 (wolframin)
YARS tyrosyl-tRNA synthetase