weakness due to upper motor neuron dysfunction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. (Human Phenotype Ontology, HP_0010549)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010549
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Genes

245 genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADAR adenosine deaminase, RNA-specific
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALAD aminolevulinate dehydratase
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APOA1 apolipoprotein A-I
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARSA arylsulfatase A
ARX aristaless related homeobox
ATL1 atlastin GTPase 1
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BCAP31 B-cell receptor-associated protein 31
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF65 chromosome 12 open reading frame 65
C4A complement component 4A (Rodgers blood group)
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CBS cystathionine-beta-synthase
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COASY CoA synthase
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COX1
COX2
COX3
CPT1A carnitine palmitoyltransferase 1A (liver)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DNASE1L3 deoxyribonuclease I-like 3
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DPYD dihydropyrimidine dehydrogenase
DUSP6 dual specificity phosphatase 6
EDNRB endothelin receptor type B
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERLIN2 ER lipid raft associated 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
FLRT3 fibronectin leucine rich transmembrane protein 3
FOXG1 forkhead box G1
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAN gigaxonin
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HESX1 HESX homeobox 1
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IQCB1 IQ motif containing B1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNT1 potassium channel, sodium activated subfamily T, member 1
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KISS1R KISS1 receptor
L1CAM L1 cell adhesion molecule
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MEOX1 mesenchyme homeobox 1
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ATP8 ATP synthase F0 subunit 8
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
MTPAP mitochondrial poly(A) polymerase
MUT methylmalonyl CoA mutase
NAGA N-acetylgalactosaminidase, alpha-
ND1
NF1 neurofibromin 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH3 notch 3
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTNG1 netrin G1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAX3 paired box 3
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHX pyruvate dehydrogenase complex, component X
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PLP1 proteolipid protein 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RANBP2 RAN binding protein 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
REEP1 receptor accessory protein 1
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNF216 ring finger protein 216
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTN2 reticulon 2
SAMHD1 SAM domain and HD domain 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SHH sonic hedgehog
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A10 solute carrier family 30, member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAST spastin
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRY4 sprouty homolog 4 (Drosophila)
SQSTM1 sequestosome 1
STAT4 signal transducer and activator of transcription 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUOX sulfite oxidase
TACR3 tachykinin receptor 3
TBC1D24 TBC1 domain family, member 24
TFG TRK-fused gene
TLR4 toll-like receptor 4
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TP53 tumor protein p53
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TTC19 tetratricopeptide repeat domain 19
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB2B tubulin, beta 2B class IIb
TULP1 tubby like protein 1
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
WDR11 WD repeat domain 11
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26