paresthesia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. (Human Phenotype Ontology, HP_0003401)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003401
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Genes

73 genes associated with the paresthesia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
AMN amnion associated transmembrane protein
APP amyloid beta (A4) precursor protein
ATL1 atlastin GTPase 1
C4A complement component 4A (Rodgers blood group)
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CALR calreticulin
CASR calcium-sensing receptor
COX1
COX2
COX3
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CUBN cubilin (intrinsic factor-cobalamin receptor)
DNASE1L3 deoxyribonuclease I-like 3
FMR1 fragile X mental retardation 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
GIF gastric intrinsic factor (vitamin B synthesis)
GLA galactosidase, alpha
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HBB hemoglobin, beta
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
JAK2 Janus kinase 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LIFR leukemia inhibitory factor receptor alpha
LYST lysosomal trafficking regulator
MEFV Mediterranean fever
MLH1 mutL homolog 1
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAGA N-acetylgalactosaminidase, alpha-
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRRT2 proline-rich transmembrane protein 2
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEPT9 septin 9
SH2B3 SH2B adaptor protein 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
STAT4 signal transducer and activator of transcription 4
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP53 tumor protein p53