Scleroderma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (Human Disease Ontology, DOID_419)
External Link https://www.disgenet.org/browser/0/1/0/C0748540
Similar Terms
Downloads & Tools

Genes

310 genes associated with the disease Scleroderma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACP3 acid phosphatase 3
ACR acrosin
ADA adenosine deaminase
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX5 arachidonate 5-lipoxygenase
ALOX5AP arachidonate 5-lipoxygenase-activating protein
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ATG5 autophagy related 5
BANK1 B-cell scaffold protein with ankyrin repeats 1
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BLM Bloom syndrome, RecQ helicase-like
BMP6 bone morphogenetic protein 6
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BTG3 BTG family, member 3
CARD16 caspase recruitment domain family, member 16
CARMIL1 capping protein regulator and myosin 1 linker 1
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCN1 cellular communication network factor 1
CCN2 cellular communication network factor 2
CCR2 chemokine (C-C motif) receptor 2
CCR6 chemokine (C-C motif) receptor 6
CD22 CD22 molecule
CD247 CD247 molecule
CD34 CD34 molecule
CD44 CD44 molecule (Indian blood group)
CD69 CD69 molecule
CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta
CENPA centromere protein A
CENPC centromere protein C
CLCNKB chloride channel, voltage-sensitive Kb
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COMP cartilage oligomeric matrix protein
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
COX2
CRISP2 cysteine-rich secretory protein 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSAD cysteine sulfinic acid decarboxylase
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYCS cytochrome c, somatic
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DDR2 discoidin domain receptor tyrosine kinase 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLL1 delta-like 1 (Drosophila)
DNAAF3 dynein, axonemal, assembly factor 3
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EBI3 Epstein-Barr virus induced 3
EDN1 endothelin 1
EDNRB endothelin receptor type B
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EGR2 early growth response 2
EGR3 early growth response 3
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPHA1 EPH receptor A1
EPHB2 EPH receptor B2
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1
ESR1 estrogen receptor 1
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EXOSC10 exosome component 10
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBL fibrillarin
FBN1 fibrillin 1
FBRS fibrosin
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FKBP1A FK506 binding protein 1A, 12kDa
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FN1 fibronectin 1
FOLR2 folate receptor 2 (fetal)
FOXC1 forkhead box C1
FOXO3 forkhead box O3
FPR2 formyl peptide receptor 2
GDF15 growth differentiation factor 15
GEM GTP binding protein overexpressed in skeletal muscle
GLB1 galactosidase, beta 1
GORASP1 golgi reassembly stacking protein 1, 65kDa
GRAP2 GRB2-related adaptor protein 2
GSTK1 glutathione S-transferase kappa 1
GTF2I general transcription factor IIi
GYPA glycophorin A (MNS blood group)
GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)
HDAC5 histone deacetylase 5
HDC histidine decarboxylase
HFE hemochromatosis
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-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
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HLA-G major histocompatibility complex, class I, G
ICAM1 intercellular adhesion molecule 1
IFI16 interferon, gamma-inducible protein 16
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNG interferon, gamma
IFT122 intraflagellar transport 122
IL10 interleukin 10
IL13 interleukin 13
IL13RA1 interleukin 13 receptor, alpha 1
IL16 interleukin 16
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL2 interleukin 2
IL23R interleukin 23 receptor
IL3 interleukin 3
IL4 interleukin 4
IL6 interleukin 6
IRF5 interferon regulatory factor 5
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KIAA0319L KIAA0319-like
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KITLG KIT ligand
KL klotho
KLF4 Kruppel-like factor 4 (gut)
KNG1 kininogen 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
KRT7 keratin 7, type II
LBR lamin B receptor
LEMD3 LEM domain containing 3
LGALS3 lectin, galactoside-binding, soluble, 3
LMNA lamin A/C
LOX lysyl oxidase
LOXL2 lysyl oxidase-like 2
LTB4R leukotriene B4 receptor
LTBP4 latent transforming growth factor beta binding protein 4
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MBD1 methyl-CpG binding domain protein 1
MECP2 methyl CpG binding protein 2
MET MET proto-oncogene, receptor tyrosine kinase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MPO myeloperoxidase
MRPS30 mitochondrial ribosomal protein S30
MRTFA myocardin related transcription factor A
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MT3 metallothionein 3
MTPAP mitochondrial poly(A) polymerase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2
MYC v-myc avian myelocytomatosis viral oncogene homolog
NID2 nidogen 2 (osteonidogen)
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
OXCT1 3-oxoacid CoA transferase 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAPOLA poly(A) polymerase alpha
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCM1 pericentriolar material 1
PDAP1 PDGFA associated protein 1
PDE5A phosphodiesterase 5A, cGMP-specific
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGM1 phosphoglucomutase 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAA phospholipase A2-activating protein
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLR1A polymerase (RNA) I polypeptide A, 194kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMC proopiomelanocortin
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PPIG peptidylprolyl isomerase G (cyclophilin G)
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKCD protein kinase C, delta
PRRT2 proline-rich transmembrane protein 2
PRSS55 protease, serine, 55
PRTN3 proteinase 3
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RBM45 RNA binding motif protein 45
REG3A regenerating islet-derived 3 alpha
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNPC3 RNA-binding region (RNP1, RRM) containing 3
RNPS1 RNA binding protein S1, serine-rich domain
RO60 Ro60, Y RNA binding protein
RTCA RNA 3'-terminal phosphate cyclase
S100A9 S100 calcium binding protein A9
SCLY selenocysteine lyase
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SIRT1 sirtuin 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD7 SMAD family member 7
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SP1 Sp1 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPIN1 spindlin 1
SPZ1 spermatogenic leucine zipper 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRPK2 SRSF protein kinase 2
SRY sex determining region Y
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SYT1 synaptotagmin I
TAC1 tachykinin, precursor 1
TAL1 T-cell acute lymphocytic leukemia 1
TBX21 T-box 21
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBS1 thrombospondin 1
THY1 Thy-1 cell surface antigen
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR1 toll-like receptor 1
TLR4 toll-like receptor 4
TNC tenascin C
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TNIP1 TNFAIP3 interacting protein 1
TP53 tumor protein p53
TPO thyroid peroxidase
TRIM21 tripartite motif containing 21
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSLP thymic stromal lymphopoietin
TSSK1B testis-specific serine kinase 1B
TTN titin
TUSC2 tumor suppressor candidate 2
TXN thioredoxin
UBE4A ubiquitination factor E4A
UBE4B ubiquitination factor E4B
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WDR11 WD repeat domain 11
WNK1 WNK lysine deficient protein kinase 1
WRN Werner syndrome, RecQ helicase-like
XYLT2 xylosyltransferase II
YY1 YY1 transcription factor
ZMPSTE24 zinc metallopeptidase STE24