Mixed Connective Tissue Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0026272
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Genes

57 genes associated with the disease Mixed Connective Tissue Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BTG3 BTG family, member 3
CD40LG CD40 ligand
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDKN2A cyclin-dependent kinase inhibitor 2A
COL17A1 collagen, type XVII, alpha 1
CRP C-reactive protein, pentraxin-related
DSG3 desmoglein 3
ENAH enabled homolog (Drosophila)
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F8 coagulation factor VIII, procoagulant component
FOS FBJ murine osteosarcoma viral oncogene homolog
FSCN1 fascin actin-bundling protein 1
GIF gastric intrinsic factor (vitamin B synthesis)
HLA-DOA major histocompatibility complex, class II, DO alpha
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HNRNPAB heterogeneous nuclear ribonucleoprotein A/B
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2)
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IL10 interleukin 10
IL12B interleukin 12B
IL17A interleukin 17A
IL17F interleukin 17F
IL2RA interleukin 2 receptor, alpha
IL6 interleukin 6
IRF7 interferon regulatory factor 7
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
MPP1 membrane protein, palmitoylated 1, 55kDa
MUC1 mucin 1, cell surface associated
NCAM1 neural cell adhesion molecule 1
NT5C1A 5'-nucleotidase, cytosolic IA
P4HB prolyl 4-hydroxylase, beta polypeptide
PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma)
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PON1 paraoxonase 1
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
PTBP1 polypyrimidine tract binding protein 1
RBM45 RNA binding motif protein 45
RNPC3 RNA-binding region (RNP1, RRM) containing 3
RO60 Ro60, Y RNA binding protein
RPP14 ribonuclease P/MRP 14kDa subunit
S100A9 S100 calcium binding protein A9
SF3B6 splicing factor 3b, subunit 6, 14kDa
SFTPD surfactant protein D
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SNRPA small nuclear ribonucleoprotein polypeptide A
SUB1 SUB1 homolog (S. cerevisiae)
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRB T cell receptor beta locus