functional motor problems Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004302
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Genes

124 genes associated with the functional motor problems phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAD9 acyl-CoA dehydrogenase family, member 9
ACTA1 actin, alpha 1, skeletal muscle
ADCK3 aarF domain containing kinase 3
AGK acylglycerol kinase
AGRN agrin
ANO5 anoctamin 5
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAG3 BCL2-associated athanogene 3
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BICD2 bicaudal D homolog 2 (Drosophila)
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
CAPN3 calpain 3, (p94)
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
COA5 cytochrome c oxidase assembly factor 5
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDHD1 DDHD domain containing 1
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DOK7 docking protein 7
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
ENO3 enolase 3 (beta, muscle)
FA2H fatty acid 2-hydroxylase
FASTKD2 FAST kinase domains 2
FBXO38 F-box protein 38
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FLNC filamin C, gamma
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJB1 gap junction protein, beta 1, 32kDa
GLRA1 glycine receptor, alpha 1
GMPPB GDP-mannose pyrophosphorylase B
GOSR2 golgi SNAP receptor complex member 2
GYS1 glycogen synthase 1 (muscle)
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
ISCU iron-sulfur cluster assembly enzyme
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KIF1C kinesin family member 1C
LAMP2 lysosomal-associated membrane protein 2
LDHA lactate dehydrogenase A
LMNA lamin A/C
MEGF10 multiple EGF-like-domains 10
MGME1 mitochondrial genome maintenance exonuclease 1
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MUSK muscle, skeletal, receptor tyrosine kinase
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NKX2-1 NK2 homeobox 1
NUBPL nucleotide binding protein-like
PET100 PET100 homolog (S. cerevisiae)
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PGM1 phosphoglucomutase 1
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
PRX periaxin
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
RAPSN receptor-associated protein of the synapse
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RYR1 ryanodine receptor 1 (skeletal)
SBF2 SET binding factor 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SETX senataxin
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SPG20 spastic paraplegia 20 (Troyer syndrome)
STIM1 stromal interaction molecule 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAZ tafazzin
TCAP titin-cap
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TPM2 tropomyosin 2 (beta)
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WISP3 WNT1 inducible signaling pathway protein 3
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial