Marinesco-Sjogren Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0024814
Similar Terms
Downloads & Tools

Genes

125 genes associated with the disease Marinesco-Sjogren Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACVR2A activin A receptor, type IIA
ALK anaplastic lymphoma receptor tyrosine kinase
APC adenomatous polyposis coli
APTX aprataxin
ASXL1 additional sex combs like transcriptional regulator 1
BAX BCL2-associated X protein
BRAF B-Raf proto-oncogene, serine/threonine kinase
C17ORF97 chromosome 17 open reading frame 97
CARD11 caspase recruitment domain family, member 11
CD14 CD14 molecule
CD274 CD274 molecule
CD40LG CD40 ligand
CD86 CD86 molecule
CD8A CD8a molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CNOT7 CCR4-NOT transcription complex, subunit 7
COL11A2 collagen, type XI, alpha 2
COQ8A coenzyme Q8A
CSF1R colony stimulating factor 1 receptor
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CXCL12 chemokine (C-X-C motif) ligand 12
CYLD cylindromatosis (turban tumor syndrome)
DCC DCC netrin 1 receptor
DCTN6 dynactin 6
DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3
DPYD dihydropyrimidine dehydrogenase
DUSP4 dual specificity phosphatase 4
EGFR epidermal growth factor receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPHB2 EPH receptor B2
FASN fatty acid synthase
FGF2 fibroblast growth factor 2 (basic)
FRZB frizzled-related protein
GATA3 GATA binding protein 3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPA4 heat shock 70kDa protein 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI27 interferon, alpha-inducible protein 27
IFNG interferon, gamma
IFT140 intraflagellar transport 140
IL17A interleukin 17A
IL1B interleukin 1, beta
IL6 interleukin 6
INPP5K inositol polyphosphate-5-phosphatase K
JAK3 Janus kinase 3
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MARCKS myristoylated alanine-rich protein kinase C substrate
MBD4 methyl-CpG binding domain protein 4
MET MET proto-oncogene, receptor tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MMP3 matrix metallopeptidase 3
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTUS1 microtubule associated tumor suppressor 1
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAV3 neuron navigator 3
NBN nibrin
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP2 NLR family, pyrin domain containing 2
PARP1 poly (ADP-ribose) polymerase 1
PAX5 paired box 5
PCNA proliferating cell nuclear antigen
PDCD1LG2 programmed cell death 1 ligand 2
PECAM1 platelet/endothelial cell adhesion molecule 1
PHB2 prohibitin 2
PHF6 PHD finger protein 6
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PML promyelocytic leukemia
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLE polymerase (DNA directed), epsilon, catalytic subunit
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PRDM2 PR domain containing 2, with ZNF domain
PROM1 prominin 1
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTGES prostaglandin E synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAB32 RAB32, member RAS oncogene family
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RCC2 regulator of chromosome condensation 2
REG1A regenerating islet-derived 1 alpha
RERG RAS-like, estrogen-regulated, growth inhibitor
RNF43 ring finger protein 43
RUNX3 runt-related transcription factor 3
SFRP1 secreted frizzled-related protein 1
SFRP4 secreted frizzled-related protein 4
SIL1 SIL1 nucleotide exchange factor
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SULF1 sulfatase 1
TCF3 transcription factor 3
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TET2 tet methylcytosine dioxygenase 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TICAM2 toll-like receptor adaptor molecule 2
TIGIT T cell immunoreceptor with Ig and ITIM domains
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TP53 tumor protein p53
TYMS thymidylate synthetase
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
WWOX WW domain containing oxidoreductase