abnormality of upper limb joint Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009810
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Genes

277 genes associated with the abnormality of upper limb joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANTXR2 anthrax toxin receptor 2
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
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
CHSY1 chondroitin sulfate synthase 1
CLCF1 cardiotrophin-like cytokine factor 1
CLCN5 chloride channel, voltage-sensitive 5
CLIP2 CAP-GLY domain containing linker protein 2
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
COL27A1 collagen, type XXVII, 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
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
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
CUL7 cullin 7
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EMD emerin
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FNBP4 formin binding protein 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDUA iduronidase, alpha-L-
IFITM5 interferon induced transmembrane protein 5
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
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
KIF22 kinesin family member 22
KRAS Kirsten rat sarcoma viral oncogene homolog
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
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATN3 matrilin 3
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
MIPOL1 mirror-image polydactyly 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
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
NF1 neurofibromin 1
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 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
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX22 T-box 22
TBX3 T-box 3
TBX5 T-box 5
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
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)
TNXB tenascin XB
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
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WISP3 WNT1 inducible signaling pathway protein 3
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24