Arthrogryposis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Persistent flexure or contracture of a joint. (Dorland, 27th ed) (Experimental Factor Ontology, EFO_0003857)
External Link https://www.disgenet.org/browser/0/1/0/C1834523
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Genes

222 genes associated with the disease Arthrogryposis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACTA1 actin, alpha 1, skeletal muscle
ADCY6 adenylate cyclase 6
ADGRG6 adhesion G protein-coupled receptor G6
AGRN agrin
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AR androgen receptor
ARC activity-regulated cytoskeleton-associated protein
ASCC1 activating signal cointegrator 1 complex subunit 1
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATAD1 ATPase family, AAA domain containing 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
AUTS2 autism susceptibility candidate 2
AVPR2 arginine vasopressin receptor 2
BICD2 bicaudal D homolog 2 (Drosophila)
C12ORF65 chromosome 12 open reading frame 65
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CDK5 cyclin-dependent kinase 5
CEP55 centrosomal protein 55kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLDN8 claudin 8
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COASY CoA synthase
COG8 component of oligomeric golgi complex 8
COL13A1 collagen, type XIII, alpha 1
COL2A1 collagen, type II, alpha 1
COX1
COX2
COX3
CPNE8 copine VIII
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTSL cathepsin L
CUL3 cullin 3
DHCR24 24-dehydrocholesterol reductase
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ECEL1 endothelin converting enzyme-like 1
EOMES eomesodermin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
FBN2 fibrillin 2
FBN3 fibrillin 3
FBP1 fructose-1,6-bisphosphatase 1
FKBP10 FK506 binding protein 10, 65 kDa
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FUBP1 far upstream element (FUSE) binding protein 1
FZD3 frizzled class receptor 3
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GFI1B growth factor independent 1B transcription repressor
GFM2 G elongation factor, mitochondrial 2
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
GLDN gliomedin
GLE1 GLE1 RNA export mediator
GRAP2 GRB2-related adaptor protein 2
GSTM2 glutathione S-transferase mu 2 (muscle)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HRAS Harvey rat sarcoma viral oncogene homolog
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPG2 heparan sulfate proteoglycan 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IL1B interleukin 1, beta
IL2RB interleukin 2 receptor, beta
INS insulin
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIAA1109 KIAA1109
KIF14 kinesin family member 14
KIF1A kinesin family member 1A
KIF26B kinesin family member 26B
KIF5C kinesin family member 5C
KLHL3 kelch-like family member 3
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
L1CAM L1 cell adhesion molecule
LGI4 leucine-rich repeat LGI family, member 4
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
MAGEL2 melanoma antigen family L2
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MECP2 methyl CpG binding protein 2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC1 myosin binding protein C, slow type
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYO9A myosin IXA
MYOD1 myogenic differentiation 1
MYPN myopalladin
NAIP NLR family, apoptosis inhibitory protein
NALCN sodium leak channel, non selective
ND1
NEB nebulin
NEK9 NIMA-related kinase 9
NUP88 nucleoporin 88kDa
OR1J2 olfactory receptor, family 1, subfamily J, member 2
OSR1 odd-skipped related transciption factor 1
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDX1 pancreatic and duodenal homeobox 1
PHGDH phosphoglycerate dehydrogenase
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIP prolactin-induced protein
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PLAGL1 pleiomorphic adenoma gene-like 1
PLEC plectin
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLXND1 plexin D1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRH1 proline-rich protein HaeIII subfamily 1
PRH2 proline-rich protein HaeIII subfamily 2
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RAB14 RAB14, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
REN renin
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFT1 RFT1 homolog (S. cerevisiae)
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SDC2 syndecan 2
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETBP1 SET binding protein 1
SHPK sedoheptulokinase
SIRT1 sirtuin 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
SNAP25 synaptosomal-associated protein, 25kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SOX10 SRY (sex determining region Y)-box 10
STAC3 SH3 and cysteine rich domain 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STMN1 stathmin 1
STS steroid sulfatase (microsomal), isozyme S
SYNE1 spectrin repeat containing, nuclear envelope 1
SYT2 synaptotagmin II
TBCD tubulin folding cofactor D
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMUB1 transmembrane and ubiquitin-like domain containing 1
TNF tumor necrosis factor
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TOR1A torsin family 1, member A (torsin A)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIP4 thyroid hormone receptor interactor 4
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTN titin
TUBA8 tubulin, alpha 8
TUBB2A tubulin, beta 2A class IIa
UBA1 ubiquitin-like modifier activating enzyme 1
UNC50 unc-50 homolog (C. elegans)
USP18 ubiquitin specific peptidase 18
UTRN utrophin
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae)
VPS8 vacuolar protein sorting 8 homolog (S. cerevisiae)
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
ZC4H2 zinc finger, C4H2 domain containing
ZFP57 ZFP57 zinc finger protein
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNHIT3 zinc finger, HIT-type containing 3