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. (Human Disease Ontology, DOID_418)
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