contractures of the joints of the lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005750
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Genes

71 genes associated with the contractures of the joints of the lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABHD12 abhydrolase domain containing 12
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMER1 APC membrane recruitment protein 1
BAG3 BCL2-associated athanogene 3
BCOR BCL6 corepressor
BICD2 bicaudal D homolog 2 (Drosophila)
C19ORF12 chromosome 19 open reading frame 12
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CPT2 carnitine palmitoyltransferase 2
CTGF connective tissue growth factor
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDR2 discoidin domain receptor tyrosine kinase 2
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
EMD emerin
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FLNA filamin A, alpha
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GLI3 GLI family zinc finger 3
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IRF5 interferon regulatory factor 5
KAT6B K(lysine) acetyltransferase 6B
KIAA0319L KIAA0319-like
LARGE like-glycosyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MMP2 matrix metallopeptidase 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYOT myotilin
NOD2 nucleotide-binding oligomerization domain containing 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SALL1 spalt-like transcription factor 1
SCARF2 scavenger receptor class F, member 2
SKI SKI proto-oncogene
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SPEG SPEG complex locus
SRD5A3 steroid 5 alpha-reductase 3
TBX2 T-box 2
TBX4 T-box 4
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing