Scleroderma, Systemic Gene Set

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

169 genes associated with the Scleroderma, Systemic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACVRL1 activin A receptor type II-like 1
ADORA2A adenosine A2a receptor
AIF1 allograft inflammatory factor 1
AIRE autoimmune regulator
ATG5 autophagy related 5
BANK1 B-cell scaffold protein with ankyrin repeats 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C5 complement component 5
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCR6 chemokine (C-C motif) receptor 6
CCR7 chemokine (C-C motif) receptor 7
CD19 CD19 molecule
CD22 CD22 molecule
CD226 CD226 molecule
CD24 CD24 molecule
CD247 CD247 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD58 CD58 molecule
CD86 CD86 molecule
CDHR5 cadherin-related family member 5
COL15A1 collagen, type XV, alpha 1
CRP C-reactive protein, pentraxin-related
CSK c-src tyrosine kinase
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR2 chemokine (C-X-C motif) receptor 2
CYBA cytochrome b-245, alpha polypeptide
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DNASE1L3 deoxyribonuclease I-like 3
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
ENG endoglin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FAM167A family with sequence similarity 167, member A
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FCAR Fc fragment of IgA receptor
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGB fibrinogen beta chain
FLT1 fms-related tyrosine kinase 1
FOXP3 forkhead box P3
GRB10 growth factor receptor-bound protein 10
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
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-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene)
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
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HLA-G major histocompatibility complex, class I, G
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
IDO1 indoleamine 2,3-dioxygenase 1
IFNG interferon, gamma
IL10 interleukin 10
IL12A interleukin 12A
IL12RB2 interleukin 12 receptor, beta 2
IL13 interleukin 13
IL13RA1 interleukin 13 receptor, alpha 1
IL13RA2 interleukin 13 receptor, alpha 2
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL23A interleukin 23, alpha subunit p19
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
IRAK1 interleukin-1 receptor-associated kinase 1
IRF5 interferon regulatory factor 5
IRF7 interferon regulatory factor 7
IRF8 interferon regulatory factor 8
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
JAZF1 JAZF zinc finger 1
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KDR kinase insert domain receptor
KIAA0319 KIAA0319
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
LTA lymphotoxin alpha
MECP2 methyl CpG binding protein 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUC5B mucin 5B, oligomeric mucus/gel-forming
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NLRP1 NLR family, pyrin domain containing 1
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH4 notch 4
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PHRF1 PHD and ring finger domains 1
PLAUR plasminogen activator, urokinase receptor
PLD4 phospholipase D family, member 4
PSD3 pleckstrin and Sec7 domain containing 3
PSORS1C1 psoriasis susceptibility 1 candidate 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PXK PX domain containing serine/threonine kinase
RHOB ras homolog family member B
SCHIP1 schwannomin interacting protein 1
SFTPB surfactant protein B
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SOX5 SRY (sex determining region Y)-box 5
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
STAT4 signal transducer and activator of transcription 4
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TBX21 T-box 21
TERC telomerase RNA component
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP1 TIMP metallopeptidase inhibitor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNIP1 TNFAIP3 interacting protein 1
TNPO3 transportin 3
TRAF1 TNF receptor-associated factor 1
TREH trehalase (brush-border membrane glycoprotein)
TREX1 three prime repair exonuclease 1
UTS2 urotensin 2
VEGFA vascular endothelial growth factor A
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4