gait disturbance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. (Human Phenotype Ontology, HP_0001288)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001288
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Genes

392 genes associated with the gait disturbance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTA1 actin, alpha 1, skeletal muscle
ADAR adenosine deaminase, RNA-specific
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANO10 anoctamin 10
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN10 ataxin 10
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BEAN1 brain expressed, associated with NEDD4, 1
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
CA8 carbonic anhydrase VIII
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CFL2 cofilin 2 (muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHMP2B charged multivesicular body protein 2B
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN2 chloride channel, voltage-sensitive 2
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
COASY CoA synthase
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DDHD1 DDHD domain containing 1
DEAF1 DEAF1 transcription factor
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DOK7 docking protein 7
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EEF2 eukaryotic translation elongation factor 2
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
EMD emerin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC8 excision repair cross-complementation group 8
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FEZF1 FEZ family zinc finger 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNC filamin C, gamma
FLRT3 fibronectin leucine rich transmembrane protein 3
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
FXN frataxin
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
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GLB1 galactosidase, beta 1
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GOSR2 golgi SNAP receptor complex member 2
GPHN gephyrin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IFT27 intraflagellar transport 27
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
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
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KDM5C lysine (K)-specific demethylase 5C
KIAA0226 KIAA0226
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KMT2A lysine (K)-specific methyltransferase 2A
L1CAM L1 cell adhesion molecule
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB1 lamin B1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MATN3 matrilin 3
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NDRG1 N-myc downstream regulated 1
NEB nebulin
NEFL neurofilament, light polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NKX2-1 NK2 homeobox 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOP56 NOP56 ribonucleoprotein
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NRXN1 neurexin 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PCNA proliferating cell nuclear antigen
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE8B phosphodiesterase 8B
PDHX pyruvate dehydrogenase complex, component X
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDYN prodynorphin
PGAP3 post-GPI attachment to proteins 3
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
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
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
PSEN1 presenilin 1
PTH1R parathyroid hormone 1 receptor
RAB7A RAB7A, member RAS oncogene family
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
RNF170 ring finger protein 170
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SACS sacsin molecular chaperone
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCARB2 scavenger receptor class B, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SETX senataxin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMS spermine synthase
SOX10 SRY (sex determining region Y)-box 10
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)
SPTBN2 spectrin, beta, non-erythrocytic 2
STAT4 signal transducer and activator of transcription 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SYNJ1 synaptojanin 1
TACR3 tachykinin receptor 3
TAZ tafazzin
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TCAP titin-cap
TCF4 transcription factor 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TECPR2 tectonin beta-propeller repeat containing 2
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTPA tocopherol (alpha) transfer protein
TUBB4A tubulin, beta 4A class IVa
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR81 WD repeat domain 81
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WWOX WW domain containing oxidoreductase
ZBTB20 zinc finger and BTB domain containing 20
ZFP90 ZFP90 zinc finger protein
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469