arthrogryposis multiplex congenita Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A muscle tissue disease characterized by congenital joint contractures of hand and feet. (Human Disease Ontology, DOID_0050646)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002804
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Genes

65 genes associated with the arthrogryposis multiplex congenita phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
CHAT choline O-acetyltransferase
CHMP1A charged multivesicular body protein 1A
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)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COX1
COX2
COX3
DHCR24 24-dehydrocholesterol reductase
DOK7 docking protein 7
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM20C family with sequence similarity 20, member C
FBN2 fibrillin 2
FKBP10 FK506 binding protein 10, 65 kDa
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLE1 GLE1 RNA export mediator
HSPG2 heparan sulfate proteoglycan 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KIF5C kinesin family member 5C
KLHL41 kelch-like family member 41
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MUSK muscle, skeletal, receptor tyrosine kinase
ND1
NEB nebulin
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RAPSN receptor-associated protein of the synapse
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SOX10 SRY (sex determining region Y)-box 10
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UBA1 ubiquitin-like modifier activating enzyme 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335