scleroderma Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. (Experimental Factor Ontology, EFO_0000717)
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Genes

89 genes co-occuring with the biological term scleroderma in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
AKT1 v-akt murine thymoma viral oncogene homolog 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
CAV1 caveolin 1, caveolae protein, 22kDa
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL2 chemokine (C-C motif) ligand 2
CCL3 chemokine (C-C motif) ligand 3
CCL5 chemokine (C-C motif) ligand 5
CD163 CD163 molecule
CD34 CD34 molecule
CENPI centromere protein I
CENPO centromere protein O
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRP C-reactive protein, pentraxin-related
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
DPP4 dipeptidyl-peptidase 4
EDN1 endothelin 1
EGR3 early growth response 3
ENG endoglin
EP300 E1A binding protein p300
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FOXO3 forkhead box O3
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-G major histocompatibility complex, class I, G
ICAM1 intercellular adhesion molecule 1
ICAM3 intercellular adhesion molecule 3
IGFBP3 insulin-like growth factor binding protein 3
IL1A interleukin 1, alpha
IL20 interleukin 20
IL23R interleukin 23 receptor
ITGAV integrin, alpha V
ITGB5 integrin, beta 5
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
LBR lamin B receptor
LMNA lamin A/C
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR21 microRNA 21
MIR29A microRNA 29a
MMP1 matrix metallopeptidase 1
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POSTN periostin, osteoblast specific factor
PTEN phosphatase and tensin homolog
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RXFP1 relaxin/insulin-like family peptide receptor 1
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3
SKI SKI proto-oncogene
SKIL SKI-like proto-oncogene
SMAD1 SMAD family member 1
SMAD3 SMAD family member 3
SMAD7 SMAD family member 7
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SP1 Sp1 transcription factor
SP3 Sp3 transcription factor
TGFB1 transforming growth factor, beta 1
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
TLR4 toll-like receptor 4
TMSB10 thymosin beta 10
TMSB4X thymosin beta 4, X-linked
TNC tenascin C
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
UBE4A ubiquitination factor E4A
VEGFA vascular endothelial growth factor A
WNT2 wingless-type MMTV integration site family member 2
WNT3A wingless-type MMTV integration site family, member 3A
ZBTB7B zinc finger and BTB domain containing 7B
ZMPSTE24 zinc metallopeptidase STE24