mixed connective tissue disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (Human Disease Ontology, DOID_3492)
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Genes

113 genes co-occuring with the disease mixed connective tissue disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 2.28369
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 1.53921
SNRPA small nuclear ribonucleoprotein polypeptide A 1.53304
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 1.5093
HSPG2 heparan sulfate proteoglycan 2 1.49438
RNASEH2A ribonuclease H2, subunit A 1.3773
TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 1.37163
TRIM21 tripartite motif containing 21 1.09377
CENPB centromere protein B, 80kDa 0.97044
GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa 0.947435
TROVE2 TROVE domain family, member 2 0.914727
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 0.898282
CD79A CD79a molecule, immunoglobulin-associated alpha 0.872053
KPTN kaptin (actin binding protein) 0.859771
HARS histidyl-tRNA synthetase 0.857315
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 0.778613
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 0.746391
CD4 CD4 molecule 0.711587
HIST1H2AJ histone cluster 1, H2aj 0.699517
HIST1H2AD histone cluster 1, H2ad 0.699517
H2AFV H2A histone family, member V 0.697911
H2AFB2 H2A histone family, member B2 0.697109
H2AFB1 H2A histone family, member B1 0.695905
H2AFY2 H2A histone family, member Y2 0.695905
HIST1H2AH histone cluster 1, H2ah 0.694702
H2AFJ H2A histone family, member J 0.694702
HIST1H2AM histone cluster 1, H2am 0.691094
IFNG interferon, gamma 0.686691
HIST1H2AB histone cluster 1, H2ab 0.685091
HIST1H2AE histone cluster 1, H2ae 0.685091
HIST1H2AG histone cluster 1, H2ag 0.677504
FBN1 fibrillin 1 0.6608
HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 0.651694
H2AFY H2A histone family, member Y 0.651298
LAIR1 leukocyte-associated immunoglobulin-like receptor 1 0.647348
RPL7 ribosomal protein L7 0.642221
PTBP1 polypyrimidine tract binding protein 1 0.635528
DSG1 desmoglein 1 0.632384
KTN1 kinectin 1 (kinesin receptor) 0.624143
PRTN3 proteinase 3 0.609666
PLS1 plastin 1 0.584719
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 0.58433
TOP1 topoisomerase (DNA) I 0.582384
ILVBL ilvB (bacterial acetolactate synthase)-like 0.562558
HNRNPL heterogeneous nuclear ribonucleoprotein L 0.532314
VWF von Willebrand factor 0.527676
HLA-A major histocompatibility complex, class I, A 0.506123
ACVRL1 activin A receptor type II-like 1 0.448817
ADD3 adducin 3 (gamma) 0.442795
CRP C-reactive protein, pentraxin-related 0.440538
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0.438658
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.434899
PTBP2 polypyrimidine tract binding protein 2 0.42739
DSG3 desmoglein 3 0.42364
COIL coilin 0.42289
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.418768
LATS1 large tumor suppressor kinase 1 0.418394
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.410161
TNF tumor necrosis factor 0.399707
SSB Sjogren syndrome antigen B (autoantigen La) 0.394118
HES4 hes family bHLH transcription factor 4 0.394118
THBD thrombomodulin 0.391141
ACE angiotensin I converting enzyme 0.380368
SLC22A6 solute carrier family 22 (organic anion transporter), member 6 0.375179
HSPA8 heat shock 70kDa protein 8 0.372217
RETNLB resistin like beta 0.369997
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.369258
PCNA proliferating cell nuclear antigen 0.365932
SRGN serglycin 0.364824
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.360764
ACR acrosin 0.360395
PTGIR prostaglandin I2 (prostacyclin) receptor (IP) 0.358183
MPO myeloperoxidase 0.357446
IFNA1 interferon, alpha 1 0.350084
APITD1 apoptosis-inducing, TAF9-like domain 1 0.349349
HIST2H2AC histone cluster 2, H2ac 0.348614
HIST2H2AA4 histone cluster 2, H2aa4 0.348246
HIST2H2AA3 histone cluster 2, H2aa3 0.348246
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 0.344941
PON1 paraoxonase 1 0.3292
APOH apolipoprotein H (beta-2-glycoprotein I) 0.320817
VDAC1 voltage-dependent anion channel 1 0.315366
SP100 SP100 nuclear antigen 0.311377
HIST3H2BB histone cluster 3, H2bb 0.287235
HIST2H2BF histone cluster 2, H2bf 0.285444
HIST1H2BA histone cluster 1, H2ba 0.283297
HIST1H2BD histone cluster 1, H2bd 0.28294
HIST1H2BH histone cluster 1, H2bh 0.28294
FGF9 fibroblast growth factor 9 0.271886
HIST1H2BF histone cluster 1, H2bf 0.269043
HIST1H2BC histone cluster 1, H2bc 0.269043
SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa 0.252422
AZU1 azurocidin 1 0.247852
OR10A4 olfactory receptor, family 10, subfamily A, member 4 0.246098
IL6 interleukin 6 0.245396
DYNLT1 dynein, light chain, Tctex-type 1 0.231102
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.227642
MMP3 matrix metallopeptidase 3 0.220081
S100A9 S100 calcium binding protein A9 0.203275
DEK DEK proto-oncogene 0.192031
MVK mevalonate kinase 0.191719
KLRB1 killer cell lectin-like receptor subfamily B, member 1 0.187719
IGHV3-30 immunoglobulin heavy variable 3-30 0.183835
IL2RA interleukin 2 receptor, alpha 0.180937
IFT122 intraflagellar transport 122 0.175146
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 0.172799
SELL selectin L 0.171785
IL2 interleukin 2 0.171286
IL1A interleukin 1, alpha 0.171036
LMNB1 lamin B1 0.167452
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 0.166768
YBX1 Y box binding protein 1 0.161523
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 0.161139