congenital contracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. (Human Phenotype Ontology, HP_0002803)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002803
Similar Terms
Downloads & Tools

Genes

78 genes associated with the congenital contracture 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
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
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
FIG4 FIG4 phosphoinositide 5-phosphatase
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
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
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
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRG4 proteoglycan 4
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
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
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)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335