motor delay Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of Developmental delay characterized by a delay in acquiring motor skills. (Human Phenotype Ontology, HP_0001270)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001270
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Genes

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

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACTA1 actin, alpha 1, skeletal muscle
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCY5 adenylate cyclase 5
AGK acylglycerol kinase
AHCY adenosylhomocysteinase
AHI1 Abelson helper integration site 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATL1 atlastin GTPase 1
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GAT3 beta-1,3-glucuronyltransferase 3
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP1 bone morphogenetic protein 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
CANT1 calcium activated nucleotidase 1
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CFL2 cofilin 2 (muscle)
CHKB choline kinase beta
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)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIB2 calcium and integrin binding family member 2
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CNTNAP2 contactin associated protein-like 2
COA5 cytochrome c oxidase assembly factor 5
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
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)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCX doublecortin
DLAT dihydrolipoamide S-acetyltransferase
DNM2 dynamin 2
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPYD dihydropyrimidine dehydrogenase
DSE dermatan sulfate epimerase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EGR2 early growth response 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FAM126A family with sequence similarity 126, member A
FASTKD2 FAST kinase domains 2
FBN2 fibrillin 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF3 fibroblast growth factor 3
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FOXG1 forkhead box G1
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GALE UDP-galactose-4-epimerase
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
HARS histidyl-tRNA synthetase
HEPACAM hepatic and glial cell adhesion molecule
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HOXA1 homeobox A1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
INS insulin
ITGA7 integrin, alpha 7
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KIAA0226 KIAA0226
KLHL41 kelch-like family member 41
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LIAS lipoic acid synthetase
LMNA lamin A/C
MAOA monoamine oxidase A
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF10 multiple EGF-like-domains 10
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDN necdin, melanoma antigen (MAGE) family member
NEB nebulin
NEFL neurofilament, light polypeptide
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-1 NK2 homeobox 1
NPHP1 nephronophthisis 1 (juvenile)
NT5C2 5'-nucleotidase, cytosolic II
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCDH15 protocadherin-related 15
PET100 PET100 homolog (S. cerevisiae)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMP22 peripheral myelin protein 22
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPRQ protein tyrosine phosphatase, receptor type, Q
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
RYR1 ryanodine receptor 1 (skeletal)
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SEPN1 selenoprotein N, 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SP7 Sp7 transcription factor
SPEG SPEG complex locus
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SRD5A3 steroid 5 alpha-reductase 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
SYNGAP1 synaptic Ras GTPase activating protein 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAZ tafazzin
TCF4 transcription factor 4
TH tyrosine hydroxylase
TK2 thymidine kinase 2, mitochondrial
TMCO1 transmembrane and coiled-coil domains 1
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHR thyroid stimulating hormone receptor
TTN titin
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
TUBB4A tubulin, beta 4A class IVa
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2