systemic scleroderma Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:418
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Genes

86 genes associated with the disease systemic scleroderma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 2.20601
NOTCH4 notch 4 2.03162
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 2.01898
STAT4 signal transducer and activator of transcription 4 1.7256
TNPO3 transportin 3 1.7256
PSORS1C1 psoriasis susceptibility 1 candidate 1 1.52524
AGER advanced glycosylation end product-specific receptor 1.47708
TNXB tenascin XB 1.47643
CD247 CD247 molecule 1.47287
TNIP1 TNFAIP3 interacting protein 1 1.45471
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 1.44595
SOX5 SRY (sex determining region Y)-box 5 1.31635
HSPA1L heat shock 70kDa protein 1-like 1.29921
STK19 serine/threonine kinase 19 1.28268
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1.26855
MSH5 mutS homolog 5 1.22454
GRB10 growth factor receptor-bound protein 10 1.19386
C6ORF10 chromosome 6 open reading frame 10 1.16953
PRRC2A proline-rich coiled-coil 2A 1.12551
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.0279
OPCML opioid binding protein/cell adhesion molecule-like 1.02049
PXK PX domain containing serine/threonine kinase 1.00275
KIAA0319L KIAA0319-like 0.958374
CDH18 cadherin 18, type 2 0.953745
DYSF dysferlin 0.949336
SMAD3 SMAD family member 3 0.902199
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.892579
DGKQ diacylglycerol kinase, theta 110kDa 0.88094
RBMS3 RNA binding motif, single stranded interacting protein 3 0.876818
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.875106
ZNF423 zinc finger protein 423 0.854292
SLIT3 slit homolog 3 (Drosophila) 0.837296
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.814557
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.806666
LOC100506023 uncharacterized LOC100506023 0.769438
SFSWAP splicing factor, suppressor of white-apricot family 0.731217
ARMC9 armadillo repeat containing 9 0.703511
TSPAN16 tetraspanin 16 0.701367
IRAK2 interleukin-1 receptor-associated kinase 2 0.700141
NOL10 nucleolar protein 10 0.696883
CHODL chondrolectin 0.693234
NPAS3 neuronal PAS domain protein 3 0.6921
C1QB complement component 1, q subcomponent, B chain 0.684944
SUSD3 sushi domain containing 3 0.680822
CADPS2 Ca++-dependent secretion activator 2 0.677839
FBXO32 F-box protein 32 0.677559
HPGDS hematopoietic prostaglandin D synthase 0.675213
C10ORF11 chromosome 10 open reading frame 11 0.671708
JAZF1 JAZF zinc finger 1 0.638262
IL12RB2 interleukin 12 receptor, beta 2 0.616096
SAMD9L sterile alpha motif domain containing 9-like 0.555938
ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 0.539904
ATG5 autophagy related 5 0.519576
AVEN apoptosis, caspase activation inhibitor 0.517605
LINC00305 long intergenic non-protein coding RNA 305 0.509883
GRB2 growth factor receptor-bound protein 2 0.501056
PHRF1 PHD and ring finger domains 1 0.497346
CLCA1 chloride channel accessory 1 0.494845
BANP BTG3 associated nuclear protein 0.492503
MACROD2 MACRO domain containing 2 0.492088
RAMP1 receptor (G protein-coupled) activity modifying protein 1 0.488023
CNTNAP2 contactin associated protein-like 2 0.487202
BBS5 Bardet-Biedl syndrome 5 0.486518
GRK4 G protein-coupled receptor kinase 4 0.484681
UPK1B uroplakin 1B 0.482044
DPH2 DPH2 homolog (S. cerevisiae) 0.481775
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.481611
STPG2 sperm-tail PG-rich repeat containing 2 0.481515
TTC7A tetratricopeptide repeat domain 7A 0.481276
RHPN2 rhophilin, Rho GTPase binding protein 2 0.480464
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.480358
PDE4B phosphodiesterase 4B, cAMP-specific 0.479798
ANKRD44 ankyrin repeat domain 44 0.477968
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.476686
LAMC2 laminin, gamma 2 0.476572
IKZF3 IKAROS family zinc finger 3 (Aiolos) 0.473391
ICA1 islet cell autoantigen 1, 69kDa 0.465507
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.464999
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.464937
SORCS2 sortilin-related VPS10 domain containing receptor 2 0.463943
BANK1 B-cell scaffold protein with ankyrin repeats 1 0.462055
AKAP2 A kinase (PRKA) anchor protein 2 0.428917
TMEM39A transmembrane protein 39A 0.422053
RSBN1 round spermatid basic protein 1 0.42006
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) 0.408512
MCAT malonyl CoA:ACP acyltransferase (mitochondrial) 0.405313