Connective Tissue Diseases Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

147 genes associated with the Connective Tissue Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADRB2 adrenoceptor beta 2, surface
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
CBS cystathionine-beta-synthase
CBY1 chibby homolog 1 (Drosophila)
CCL2 chemokine (C-C motif) ligand 2
CCL26 chemokine (C-C motif) ligand 26
CCL3 chemokine (C-C motif) ligand 3
CCL8 chemokine (C-C motif) ligand 8
CD14 CD14 molecule
CMA1 chymase 1, mast cell
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
CRH corticotropin releasing hormone
CRHBP corticotropin releasing hormone binding protein
CRHR1 corticotropin releasing hormone receptor 1
CRHR2 corticotropin releasing hormone receptor 2
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DHFR dihydrofolate reductase
EDN2 endothelin 2
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPHX2 epoxide hydrolase 2, cytoplasmic
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA14 heat shock 70kDa protein 14
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA1L heat shock 70kDa protein 1-like
HSPA4 heat shock 70kDa protein 4
HSPA6 heat shock 70kDa protein 6 (HSP70B')
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL13 interleukin 13
IL15 interleukin 15
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RAP interleukin 1 receptor accessory protein
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL4 interleukin 4
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
IL6R interleukin 6 receptor
KL klotho
LST1 leukocyte specific transcript 1
MBL2 mannose-binding lectin (protein C) 2, soluble
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP8 matrix metallopeptidase 8
MMP9 matrix metallopeptidase 9
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon
NOD2 nucleotide-binding oligomerization domain containing 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PGR progesterone receptor
PGRMC1 progesterone receptor membrane component 1
PGRMC2 progesterone receptor membrane component 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAT plasminogen activator, tissue
POMC proopiomelanocortin
PON1 paraoxonase 1
PON2 paraoxonase 2
PTCRA pre T-cell antigen receptor alpha
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTGES prostaglandin E synthase
PTGFR prostaglandin F receptor (FP)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SERTAD1 SERTA domain containing 1
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD3 SMAD family member 3
TCN2 transcobalamin II
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP3 TIMP metallopeptidase inhibitor 3
TIMP4 TIMP metallopeptidase inhibitor 4
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TRAF2 TNF receptor-associated factor 2
TREM1 triggering receptor expressed on myeloid cells 1
TSHR thyroid stimulating hormone receptor
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VEGFA vascular endothelial growth factor A
WRN Werner syndrome, RecQ helicase-like