limitation of joint mobility Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduction in the freedom of movement of one or more joints. (Human Phenotype Ontology, HP_0001376)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001376
Similar Terms
Downloads & Tools

Genes

248 genes associated with the limitation of joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
ADCY6 adenylate cyclase 6
AGA aspartylglucosaminidase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD55 ankyrin repeat domain 55
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BHLHA9 basic helix-loop-helix family, member a9
BICD2 bicaudal D homolog 2 (Drosophila)
BMPR1B bone morphogenetic protein receptor, type IB
CBS cystathionine-beta-synthase
CD247 CD247 molecule
CD96 CD96 molecule
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP1 contactin associated protein 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, 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
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
CPT2 carnitine palmitoyltransferase 2
CRLF1 cytokine receptor-like factor 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DOK7 docking protein 7
DST dystonin
DYM dymeclin
ECEL1 endothelin converting enzyme-like 1
ELN elastin
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
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
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC3 exosome component 3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FUZ fuzzy planar cell polarity protein
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF5 growth differentiation factor 5
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GPC6 glypican 6
GPHN gephyrin
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HDAC8 histone deacetylase 8
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFITM5 interferon induced transmembrane protein 5
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
IRF6 interferon regulatory factor 6
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
L1CAM L1 cell adhesion molecule
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LTBP2 latent transforming growth factor beta binding protein 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MIPOL1 mirror-image polydactyly 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MVK mevalonate kinase
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NAGLU N-acetylglucosaminidase, alpha
NIPBL Nipped-B homolog (Drosophila)
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH3 notch 3
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
PAX3 paired box 3
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE8B phosphodiesterase 8B
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITX1 paired-like homeodomain 1
PLEC plectin
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PRG4 proteoglycan 4
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOX short stature homeobox
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SPEG SPEG complex locus
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAT4 signal transducer and activator of transcription 4
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
TMEM173 transmembrane protein 173
TNNI2 troponin I type 2 (skeletal, fast)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT3 troponin T type 3 (skeletal, fast)
TNXB tenascin XB
TPM2 tropomyosin 2 (beta)
TRAPPC2 trafficking protein particle complex 2
TREM2 triggering receptor expressed on myeloid cells 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
VANGL1 VANGL planar cell polarity protein 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
WFS1 Wolfram syndrome 1 (wolframin)
WISP3 WNT1 inducible signaling pathway protein 3
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZMPSTE24 zinc metallopeptidase STE24