joint contracture of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. (Human Phenotype Ontology, HP_0009473)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009473
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Genes

147 genes associated with the joint contracture of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANTXR2 anthrax toxin receptor 2
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDT1 chromatin licensing and DNA replication factor 1
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
CLCF1 cardiotrophin-like cytokine factor 1
CNTN1 contactin 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
DYM dymeclin
ECE1 endothelin converting enzyme 1
EFNB1 ephrin-B1
EMG1 EMG1 N1-specific pseudouridine methyltransferase
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
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
HES7 hes family bHLH transcription factor 7
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPAD1 inositol monophosphatase domain containing 1
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM5C lysine (K)-specific demethylase 5C
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MMP2 matrix metallopeptidase 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX3 paired box 3
PEX5 peroxisomal biogenesis factor 5
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PITX1 paired-like homeodomain 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RAB23 RAB23, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMOC1 SPARC related modular calcium binding 1
SRCAP Snf2-related CREBBP activator protein
TBX15 T-box 15
TBX3 T-box 3
TCTN3 tectonic family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBB3 tubulin, beta 3 class III
UBA1 ubiquitin-like modifier activating enzyme 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
WISP3 WNT1 inducible signaling pathway protein 3
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24