arthritis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. (Human Disease Ontology, DOID_848)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001369
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Genes

128 genes associated with the arthritis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD55 ankyrin repeat domain 55
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
C1R complement component 1, r subcomponent
C4A complement component 4A (Rodgers blood group)
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CD247 CD247 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CECR1 cat eye syndrome chromosome region, candidate 1
CES1 carboxylesterase 1
CFI complement factor I
CLCN7 chloride channel, voltage-sensitive 7
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
CTGF connective tissue growth factor
CTSC cathepsin C
DNASE1L3 deoxyribonuclease I-like 3
EPCAM epithelial cell adhesion molecule
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
G6PC glucose-6-phosphatase, catalytic subunit
GBA glucosidase, beta, acid
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
HDAC8 histone deacetylase 8
HGD homogentisate 1,2-dioxygenase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF1B HNF1 homeobox B
HOXD10 homeobox D10
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL6 interleukin 6
IRF5 interferon regulatory factor 5
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LBR lamin B receptor
LEMD3 LEM domain containing 3
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
MATN3 matrilin 3
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MLX MLX, MAX dimerization protein
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MUC1 mucin 1, cell surface associated
MVK mevalonate kinase
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
OCRL oculocerebrorenal syndrome of Lowe
PFKM phosphofructokinase, muscle
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SCARB2 scavenger receptor class B, member 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD3 SMAD family member 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
TBX1 T-box 1
TCF3 transcription factor 3
TF transferrin
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TRAPPC2 trafficking protein particle complex 2
TREX1 three prime repair exonuclease 1
TRPS1 trichorhinophalangeal syndrome I
TYK2 tyrosine kinase 2
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMOD uromodulin
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WISP3 WNT1 inducible signaling pathway protein 3