Scleroderma Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
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)
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Genes

241 genes associated with the disease Scleroderma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
STAT1 signal transducer and activator of transcription 1, 91kDa 2.054
STAT4 signal transducer and activator of transcription 4 2.054
TNPO3 transportin 3 2.052
IRF5 interferon regulatory factor 5 2.05
KCP kielin/chordin-like protein 2.045
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 2.032
ABHD6 abhydrolase domain containing 6 2.031
HLA-DOA major histocompatibility complex, class II, DO alpha 2.024
BRD2 bromodomain containing 2 2.024
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 2.024
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 2.024
COL11A2 collagen, type XI, alpha 2 2.024
GLS glutaminase 2.005
BLK BLK proto-oncogene, Src family tyrosine kinase 1.991
FAM167A family with sequence similarity 167, member A 1.991
DNASE1L3 deoxyribonuclease I-like 3 1.991
FLNB filamin B, beta 1.991
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 1.99
RSBN1 round spermatid basic protein 1 1.979
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 1.979
TSBP1 testis expressed basic protein 1 1.976
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 1.973
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1.973
DCLRE1B DNA cross-link repair 1B 1.967
BCL2L15 BCL2-like 15 1.967
AP4B1 adaptor-related protein complex 4, beta 1 subunit 1.967
HIPK1 homeodomain interacting protein kinase 1 1.967
IRF8 interferon regulatory factor 8 1.96
FLNC filamin C, gamma 1.958
ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F 1.958
PHTF1 putative homeodomain transcription factor 1 1.904
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 1.89
TSPAN33 tetraspanin 33 1.883
ANXA6 annexin A6 1.864
TNIP1 TNFAIP3 interacting protein 1 1.864
GPX3 glutathione peroxidase 3 1.864
BTNL2 butyrophilin-like 2 1.86
HLA-DRA major histocompatibility complex, class II, DR alpha 1.86
ATG5 autophagy related 5 1.843
AGER advanced glycosylation end product-specific receptor 1.833
EGFL8 EGF-like-domain, multiple 8 1.833
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 1.833
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 1.833
PRRT1 proline-rich transmembrane protein 1 1.833
PBX2 pre-B-cell leukemia homeobox 2 1.833
NOTCH4 notch 4 1.833
GPSM3 G-protein signaling modulator 3 1.833
PPT2 palmitoyl-protein thioesterase 2 1.833
PRDM1 PR domain containing 1, with ZNF domain 1.827
FKBPL FK506 binding protein like 1.798
ATF6B activating transcription factor 6 beta 1.798
PXK PX domain containing serine/threonine kinase 1.722
HTD2 hydroxyacyl-thioester dehydratase type 2 1.722
RPP14 ribonuclease P/MRP 14kDa subunit 1.722
PDHB pyruvate dehydrogenase (lipoamide) beta 1.722
IL12A interleukin 12A 1.689
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 1.667
APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 1.655
NCF2 neutrophil cytosolic factor 2 1.655
SMG7 SMG7 nonsense mediated mRNA decay factor 1.655
ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa 1.655
RGL1 ral guanine nucleotide dissociation stimulator-like 1 1.655
CSK c-src tyrosine kinase 1.651
EDC3 enhancer of mRNA decapping 3 1.651
SCAMP2 secretory carrier membrane protein 2 1.651
ULK3 unc-51 like kinase 3 1.651
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.651
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.651
CPLX3 complexin 3 1.651
LMAN1L lectin, mannose-binding, 1 like 1.651
TREH trehalase (brush-border membrane glycoprotein) 1.643
RNF212 ring finger protein 212 1.627
GAK cyclin G associated kinase 1.627
TMEM175 transmembrane protein 175 1.627
SLC26A1 solute carrier family 26 (anion exchanger), member 1 1.627
FGFRL1 fibroblast growth factor receptor-like 1 1.627
IDUA iduronidase, alpha-L- 1.627
DGKQ diacylglycerol kinase, theta 110kDa 1.627
KCNN1 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1 1.626
IL12RB1 interleukin 12 receptor, beta 1 1.626
IFI30 interferon, gamma-inducible protein 30 1.626
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 1.626
MAST3 microtubule associated serine/threonine kinase 3 1.626
ARRDC2 arrestin domain containing 2 1.626
LRRC3C leucine rich repeat containing 3C 1.622
ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 1.622
GSDMA gasdermin A 1.622
ZPBP2 zona pellucida binding protein 2 1.622
GSDMB gasdermin B 1.622
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 1.622
IL23R interleukin 23 receptor 1.616
SERBP1 SERPINE1 mRNA binding protein 1 1.616
IL12RB2 interleukin 12 receptor, beta 2 1.616
CDCA4 cell division cycle associated 4 1.564
CLBA1 clathrin binding box of aftiphilin containing 1 1.564
CEP170B centrosomal protein 170B 1.564
PLD4 phospholipase D family, member 4 1.564
AHNAK2 AHNAK nucleoprotein 2 1.564
POGLUT1 protein O-glucosyltransferase 1 1.546
ARHGAP31 Rho GTPase activating protein 31 1.546
TMEM39A transmembrane protein 39A 1.546
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 1.52
CD247 CD247 molecule 1.513
POU2F1 POU class 2 homeobox 1 1.513
CREG1 cellular repressor of E1A-stimulated genes 1 1.513
MANBA mannosidase, beta A, lysosomal 1.486
SLC39A8 solute carrier family 39 (zinc transporter), member 8 1.486
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.486
PTTG1 pituitary tumor-transforming 1 1.462
SLU7 SLU7 splicing factor homolog (S. cerevisiae) 1.462
C1QTNF2 C1q and tumor necrosis factor related protein 2 1.462
SCHIP1 schwannomin interacting protein 1 1.459
NEMP2 nuclear envelope integral membrane protein 2 1.433
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 1.433
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 1.41
PHRF1 PHD and ring finger domains 1 1.41
IRF7 interferon regulatory factor 7 1.41
DRD4 dopamine receptor D4 1.41
CDHR5 cadherin-related family member 5 1.41
LMNTD2 lamin tail domain containing 2 1.41
SCT secretin 1.41
TMEM80 transmembrane protein 80 1.41
EPS8L2 EPS8-like 2 1.41
DEAF1 DEAF1 transcription factor 1.41
HRAS Harvey rat sarcoma viral oncogene homolog 1.41
LRRC56 leucine rich repeat containing 56 1.41
CSF3 colony stimulating factor 3 (granulocyte) 1.402
MED24 mediator complex subunit 24 1.402
THRA thyroid hormone receptor, alpha 1.402
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase 1.346
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) 1.346
KIAA0319L KIAA0319-like 1.346
PYDC1 PYD (pyrin domain) containing 1 1.346
ITGAD integrin, alpha D 1.346
ZMYM4 zinc finger, MYM-type 4 1.346
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.346
NCDN neurochondrin 1.346
PSORS1C2 psoriasis susceptibility 1 candidate 2 1.311
CCHCR1 coiled-coil alpha-helical rod protein 1 1.311
PSORS1C1 psoriasis susceptibility 1 candidate 1 1.311
POU5F1 POU class 5 homeobox 1 1.311
C6ORF15 chromosome 6 open reading frame 15 1.311
TCF19 transcription factor 19 1.311
CRNN cornulin 1.298
FLG2 filaggrin family member 2 1.298
FLG filaggrin 1.298
ICAM3 intercellular adhesion molecule 3 1.294
RAVER1 ribonucleoprotein, PTB-binding 1 1.294
ICAM1 intercellular adhesion molecule 1 1.294
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 1.294
FDX2 ferredoxin 2 1.294
ICAM5 intercellular adhesion molecule 5, telencephalin 1.294
MRPL4 mitochondrial ribosomal protein L4 1.294
TYK2 tyrosine kinase 2 1.294
CDC37 cell division cycle 37 1.294
ZGLP1 zinc finger, GATA-like protein 1 1.294
PDE4A phosphodiesterase 4A, cAMP-specific 1.294
MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 1.274
RAB2A RAB2A, member RAS oncogene family 1.247
IKZF3 IKAROS family zinc finger 3 (Aiolos) 1.236
CRYBG1 crystallin beta-gamma domain containing 1 1.18
OLFML3 olfactomedin-like 3 1.127
ARMC7 armadillo repeat containing 7 1.092
MIF4GD MIF4G domain containing 1.092
MRPS7 mitochondrial ribosomal protein S7 1.092
NUP85 nucleoporin 85kDa 1.092
GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 1.092
SUMO2 small ubiquitin-like modifier 2 1.092
JPT1 Jupiter microtubule associated homolog 1 1.092
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 1.092
GRB2 growth factor receptor-bound protein 2 1.092
NT5C 5', 3'-nucleotidase, cytosolic 1.092
JAZF1 JAZF zinc finger 1 1.054
CCDC69 coiled-coil domain containing 69 1.054
PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 1.001
ADM5 adrenomedullin 5 (putative) 1.001
IRF3 interferon regulatory factor 3 1.001
NOSIP nitric oxide synthase interacting protein 1.001
PRR12 proline rich 12 1.001
BCL2L12 BCL2-like 12 (proline rich) 1.001
PRMT1 protein arginine methyltransferase 1 1.001
CPT1C carnitine palmitoyltransferase 1C 1.001
SCAF1 SR-related CTD-associated factor 1 1.001
RCN3 reticulocalbin 3, EF-hand calcium binding domain 1.001
FCGRT Fc fragment of IgG, receptor, transporter, alpha 1.001
RRAS related RAS viral (r-ras) oncogene homolog 1.001
ACOX2 acyl-CoA oxidase 2, branched chain 0.965
KCTD6 potassium channel tetramerization domain containing 6 0.965
NBEA neurobeachin 0.963
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.963
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 0.963
MAB21L1 mab-21-like 1 (C. elegans) 0.963
RPH3A rabphilin 3A 0.963
RPL6 ribosomal protein L6 0.963
CCDC116 coiled-coil domain containing 116 0.915
PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 0.915
YPEL1 yippee-like 1 (Drosophila) 0.915
YDJC YdjC homolog (bacterial) 0.915
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.915
SDF2L1 stromal cell-derived factor 2-like 1 0.915
RIMBP3C RIMS binding protein 3C 0.915
SYNE1 spectrin repeat containing, nuclear envelope 1 0.847
ESR1 estrogen receptor 1 0.847
CCDC170 coiled-coil domain containing 170 0.847
UFSP2 UFM1-specific peptidase 2 0.845
CCDC110 coiled-coil domain containing 110 0.845
SNX25 sorting nexin 25 0.845
ANKRD37 ankyrin repeat domain 37 0.845
LRP2BP LRP2 binding protein 0.845
CMC1 C-x(9)-C motif containing 1 0.8
MMP9 matrix metallopeptidase 9 0.8
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 0.8
CD40 CD40 molecule, TNF receptor superfamily member 5 0.8
ZNF335 zinc finger protein 335 0.8
NCOA5 nuclear receptor coactivator 5 0.8
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.729
C11ORF21 chromosome 11 open reading frame 21 0.673
TSPAN32 tetraspanin 32 0.673
TRPM5 transient receptor potential cation channel, subfamily M, member 5 0.673
TSSC4 tumor suppressing subtransferable candidate 4 0.673
CD81 CD81 molecule 0.673
ASCL2 achaete-scute family bHLH transcription factor 2 0.673
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 0.622
FCRLA Fc receptor-like A 0.622
ATF6 activating transcription factor 6 0.622
FCRLB Fc receptor-like B 0.622
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 0.622
DUSP12 dual specificity phosphatase 12 0.622
LIMK1 LIM domain kinase 1 0.608
LAT2 linker for activation of T cells family, member 2 0.608
EIF4H eukaryotic translation initiation factor 4H 0.608
ELN elastin 0.608
METTL2B methyltransferase like 2B 0.578
KPNA4 karyopherin alpha 4 (importin alpha 3) 0.56
ARL14 ADP-ribosylation factor-like 14 0.56
PPCDC phosphopantothenoylcysteine decarboxylase 0.538
PRMT2IP PRMT2 interacting protein 0.538
BCL9L B-cell CLL/lymphoma 9-like 0.522
UPK2 uroplakin 2 0.522
CXCR5 chemokine (C-X-C motif) receptor 5 0.522
CHD7 chromodomain helicase DNA binding protein 7 0.519