Clumsiness - Motor Delay Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0520947
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Genes

379 genes associated with the disease Clumsiness - Motor Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACAT1 acetyl-CoA acetyltransferase 1
ACTA1 actin, alpha 1, skeletal muscle
ADA2 adenosine deaminase 2
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADGRG1 adhesion G protein-coupled receptor G1
AGK acylglycerol kinase
AGRN agrin
AGTPBP1 ATP/GTP binding protein 1
AHCY adenosylhomocysteinase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOPT1 apoptogenic 1, mitochondrial
ARCN1 archain 1
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL3 additional sex combs like transcriptional regulator 3
ATL1 atlastin GTPase 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
ATXN7 ataxin 7
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BCAR1 breast cancer anti-estrogen resistance 1
BCOR BCL6 corepressor
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMPR1A bone morphogenetic protein receptor, type IA
BSND barttin CLCNK-type chloride channel accessory beta subunit
C12ORF4 chromosome 12 open reading frame 4
CANT1 calcium activated nucleotidase 1
CAT catalase
CC2D1A coiled-coil and C2 domain containing 1A
CDC6 cell division cycle 6
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (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
CLIP1 CAP-GLY domain containing linker protein 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COL12A1 collagen, type XII, alpha 1
COL13A1 collagen, type XIII, alpha 1
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
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
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)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRAT carnitine O-acetyltransferase
CRBN cereblon
CSE1L CSE1 chromosome segregation 1-like (yeast)
CTBP1 C-terminal binding protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CUL4B cullin 4B
CXCL8 chemokine (C-X-C motif) ligand 8
CYFIP1 cytoplasmic FMR1 interacting protein 1
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
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS1 aspartyl-tRNA synthetase 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCPS decapping enzyme, scavenger
DCX doublecortin
DGKK diacylglycerol kinase, kappa
DMD dystrophin
DMXL2 Dmx-like 2
DNM2 dynamin 2
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPYD dihydropyrimidine dehydrogenase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2
EDC3 enhancer of mRNA decapping 3
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EXOSC2 exosome component 2
EXT2 exostosin glycosyltransferase 2
EXTL3 exostosin-like glycosyltransferase 3
EZR ezrin
FAM126A family with sequence similarity 126, member A
FAM46A family with sequence similarity 46, member A
FASTKD2 FAST kinase domains 2
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXO31 F-box protein 31
FDX2 ferredoxin 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FGFR3 fibroblast growth factor receptor 3
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FMN2 formin 2
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FRRS1L ferric-chelate reductase 1-like
GBA glucosidase, beta, acid
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GHR growth hormone receptor
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLE1 GLE1 RNA export mediator
GMNN geminin, DNA replication inhibitor
GMPPB GDP-mannose pyrophosphorylase B
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK2 glutamate receptor, ionotropic, kainate 2
GRM1 glutamate receptor, metabotropic 1
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HELLS helicase, lymphoid-specific
HEPACAM hepatic and glial cell adhesion molecule
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HNMT histamine N-methyltransferase
HPRT1 hypoxanthine phosphoribosyltransferase 1
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IFT52 intraflagellar transport 52
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
INPP5K inositol polyphosphate-5-phosphatase K
INS insulin
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KAT6B K(lysine) acetyltransferase 6B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNK4 potassium channel, two pore domain subfamily K, member 4
KDM1A lysine (K)-specific demethylase 1A
KDM5B lysine (K)-specific demethylase 5B
KIAA0226 KIAA0226
KIF7 kinesin family member 7
KLC2 kinesin light chain 2
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIAS lipoic acid synthetase
LINGO1 leucine rich repeat and Ig domain containing 1
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
LONP1 lon peptidase 1, mitochondrial
LTBP4 latent transforming growth factor beta binding protein 4
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MBD5 methyl-CpG binding domain protein 5
MBOAT7 membrane bound O-acyltransferase domain containing 7
MCM3AP minichromosome maintenance complex component 3 associated protein
MED12 mediator complex subunit 12
MED12L mediator complex subunit 12-like
MED13 mediator complex subunit 13
MED13L mediator complex subunit 13-like
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
MEGF10 multiple EGF-like-domains 10
METTL23 methyltransferase like 23
MICU1 mitochondrial calcium uptake 1
MKRN3 makorin ring finger protein 3
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMP13 matrix metallopeptidase 13
MPDZ multiple PDZ domain protein
MPZ myelin protein zero
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MTMR14 myotubularin related protein 14
MTMR2 myotubularin related protein 2
MTPAP mitochondrial poly(A) polymerase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYL1 myosin, light chain 1, alkali; skeletal, fast
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO7A myosin VIIA
MYO9A myosin IXA
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEB nebulin
NEFL neurofilament, light polypeptide
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)
NKX2-1 NK2 homeobox 1
NKX6-2 NK6 homeobox 2
NONO non-POU domain containing, octamer-binding
NOTCH3 notch 3
NPAP1 nuclear pore associated protein 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
OPA1 optic atrophy 1 (autosomal dominant)
P4HB prolyl 4-hydroxylase, beta polypeptide
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PBX1 pre-B-cell leukemia homeobox 1
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCDH15 protocadherin-related 15
PCDH19 protocadherin 19
PDE10A phosphodiesterase 10A
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDX1 pancreatic and duodenal homeobox 1
PET100 PET100 homolog (S. cerevisiae)
PGAP1 post-GPI attachment to proteins 1
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
PLAGL1 pleiomorphic adenoma gene-like 1
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PLXND1 plexin D1
PMP22 peripheral myelin protein 22
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
POGZ pogo transposable element with ZNF domain
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PREPL prolyl endopeptidase-like
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PRX periaxin
PSD pleckstrin and Sec7 domain containing
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTS 6-pyruvoyltetrahydropterin synthase
PUM1 pumilio RNA-binding family member 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAI1 retinoic acid induced 1
RBM8A RNA binding motif protein 8A
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RORA RAR-related orphan receptor A
RPS23 ribosomal protein S23
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPRY1 ring finger and SPRY domain containing 1
RSRC1 arginine/serine-rich coiled-coil 1
RYR1 ryanodine receptor 1 (skeletal)
SAMD9 sterile alpha motif domain containing 9
SARDH sarcosine dehydrogenase
SARS1 seryl-tRNA synthetase 1
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SELENON selenoprotein N
SETBP1 SET binding protein 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
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC45A1 solute carrier family 45, member 1
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP25 synaptosomal-associated protein, 25kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPART spartin
SPEG SPEG complex locus
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STAC3 SH3 and cysteine rich domain 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT2 synaptotagmin II
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAZ tafazzin
TBX1 T-box 1
TCF4 transcription factor 4
TECR trans-2,3-enoyl-CoA reductase
TH tyrosine hydroxylase
TK2 thymidine kinase 2, mitochondrial
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM8C transmembrane protein 8C
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNIK TRAF2 and NCK interacting kinase
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC9 trafficking protein particle complex 9
TRIO trio Rho guanine nucleotide exchange factor
TRIP11 thyroid hormone receptor interactor 11
TRIP4 thyroid hormone receptor interactor 4
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TRPV6 transient receptor potential cation channel, subfamily V, member 6
TSHR thyroid stimulating hormone receptor
TTN titin
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB4A tubulin, beta 4A class IVa
TUBGCP5 tubulin, gamma complex associated protein 5
TUSC3 tumor suppressor candidate 3
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
USH1C Usher syndrome 1C (autosomal recessive, severe)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
WDR73 WD repeat domain 73
WWOX WW domain containing oxidoreductase
ZBTB24 zinc finger and BTB domain containing 24
ZC3H14 zinc finger CCCH-type containing 14
ZEB2 zinc finger E-box binding homeobox 2
ZFP57 ZFP57 zinc finger protein
ZNF592 zinc finger protein 592
ZNF711 zinc finger protein 711
ZSWIM6 zinc finger, SWIM-type containing 6