Appendicitis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. (Human Disease Ontology, DOID_8337)
External Link https://www.disgenet.org/browser/0/1/0/C0003615
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Genes

81 genes associated with the disease Appendicitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACR acrosin
ACSS2 acyl-CoA synthetase short-chain family member 2
ADM adrenomedullin
ALB albumin
AQP1 aquaporin 1 (Colton blood group)
AVP arginine vasopressin
CALCA calcitonin-related polypeptide alpha
CCL22 chemokine (C-C motif) ligand 22
CCL3 chemokine (C-C motif) ligand 3
CD14 CD14 molecule
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1
CRP C-reactive protein, pentraxin-related
CSF3 colony stimulating factor 3 (granulocyte)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSB cathepsin B
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
DEFB1 defensin, beta 1
DEFB103A defensin, beta 103A
DEFB103B defensin, beta 103B
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DMBT1 deleted in malignant brain tumors 1
EDN1 endothelin 1
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
EPHB1 EPH receptor B1
FLNB filamin B, beta
HAMP hepcidin antimicrobial peptide
HMGB1 high mobility group box 1
IFNG interferon, gamma
IL10 interleukin 10
IL13 interleukin 13
IL17A interleukin 17A
IL2 interleukin 2
IL3 interleukin 3
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
IL6R interleukin 6 receptor
IL9 interleukin 9
INSRR insulin receptor-related receptor
LCN2 lipocalin 2
LEPR leptin receptor
LRG1 leucine-rich alpha-2-glycoprotein 1
MAGED2 melanoma antigen family D2
MEFV Mediterranean fever
MPO myeloperoxidase
MTA1 metastasis associated 1
MUSTN1 musculoskeletal, embryonic nuclear protein 1
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOD2 nucleotide-binding oligomerization domain containing 2
NXF1 nuclear RNA export factor 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PITX2 paired-like homeodomain 2
PLA2G15 phospholipase A2, group XV
PLAU plasminogen activator, urokinase
PLG plasminogen
PTX3 pentraxin 3, long
RUNX3 runt-related transcription factor 3
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SCN7A sodium channel, voltage gated, type VII alpha subunit
SEC14L2 SEC14-like 2 (S. cerevisiae)
SELPLG selectin P ligand
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOD1 superoxide dismutase 1, soluble
TFE3 transcription factor binding to IGHM enhancer 3
TLR4 toll-like receptor 4
TNF tumor necrosis factor
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UROD uroporphyrinogen decarboxylase
USO1 USO1 vesicle transport factor