connective tissue disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (Human Disease Ontology, DOID_65)
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Genes

169 genes involed in the disease connective tissue disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACAN aggrecan
ACVR1 activin A receptor, type I
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AFF3 AF4/FMR2 family, member 3
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
ARID5B AT rich interactive domain 5B (MRF1-like)
ASXL1 additional sex combs like transcriptional regulator 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANK1 B-cell scaffold protein with ankyrin repeats 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BMP1 bone morphogenetic protein 1
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
C5 complement component 5
CA2 carbonic anhydrase II
CCL21 chemokine (C-C motif) ligand 21
CCR6 chemokine (C-C motif) receptor 6
CD2 CD2 molecule
CD28 CD28 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD5 CD5 molecule
CD58 CD58 molecule
CD96 CD96 molecule
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN7 chloride channel, voltage-sensitive 7
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
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRP C-reactive protein, pentraxin-related
CRTAP cartilage associated protein
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DLL3 delta-like 3 (Drosophila)
DNASE1 deoxyribonuclease I
DNASE1L3 deoxyribonuclease I-like 3
DSE dermatan sulfate epimerase
ERAP1 endoplasmic reticulum aminopeptidase 1
ERF Ets2 repressor factor
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
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
FKBP14 FK506 binding protein 14, 22 kDa
FLNB filamin B, beta
FREM1 FRAS1 related extracellular matrix 1
GATA3 GATA binding protein 3
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
HES7 hes family bHLH transcription factor 7
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IFITM5 interferon induced transmembrane protein 5
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL11RA interleukin 11 receptor, alpha
IL1A interleukin 1, alpha
IL2 interleukin 2
IL21 interleukin 21
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
IRAK1 interleukin-1 receptor-associated kinase 1
IRF5 interferon regulatory factor 5
IRF8 interferon regulatory factor 8
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KIF5A kinesin family member 5A
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP5 low density lipoprotein receptor-related protein 5
LTK leukocyte receptor tyrosine kinase
MATN3 matrilin 3
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR4315-1 microRNA 4315-1
MIR4315-2 microRNA 4315-2
MSX2 msh homeobox 2
NCF2 neutrophil cytosolic factor 2
OSTM1 osteopetrosis associated transmembrane protein 1
P3H1 prolyl 3-hydroxylase 1
PADI4 peptidyl arginine deiminase, type IV
PDCD1 programmed cell death 1
PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
POU3F1 POU class 3 homeobox 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM1 PR domain containing 1, with ZNF domain
PRKCQ protein kinase C, theta
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PXK PX domain containing serine/threonine kinase
RAB23 RAB23, member RAS oncogene family
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RCAN1 regulator of calcineurin 1
RECQL4 RecQ protein-like 4
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SKI SKI proto-oncogene
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SNX10 sorting nexin 10
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRED2 sprouty-related, EVH1 domain containing 2
SQSTM1 sequestosome 1
STAT4 signal transducer and activator of transcription 4
TAGAP T-cell activation RhoGTPase activating protein
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TLE3 transducin-like enhancer of split 3
TLR5 toll-like receptor 5
TMEM38B transmembrane protein 38B
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNXB tenascin XB
TRAF1 TNF receptor-associated factor 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRPS1 trichorhinophalangeal syndrome I
TWIST1 twist family bHLH transcription factor 1
TYK2 tyrosine kinase 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6