abdominal pain Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. (Human Phenotype Ontology, HP_0002027)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002027
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Genes

125 genes associated with the abdominal pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ALAD aminolevulinate dehydratase
ALDOB aldolase B, fructose-bisphosphate
APC adenomatous polyposis coli
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BIRC3 baculoviral IAP repeat containing 3
BMPR1A bone morphogenetic protein receptor, type IA
BRCA1 breast cancer 1, early onset
C4A complement component 4A (Rodgers blood group)
CASR calcium-sensing receptor
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
COX1
COX2
COX3
CPOX coproporphyrinogen oxidase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DDIT3 DNA-damage-inducible transcript 3
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DNASE1L3 deoxyribonuclease I-like 3
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELANE elastase, neutrophil expressed
ELN elastin
EPOR erythropoietin receptor
EWSR1 EWS RNA-binding protein 1
F12 coagulation factor XII (Hageman factor)
F5 coagulation factor V (proaccelerin, labile factor)
FOXP1 forkhead box P1
FSHR follicle stimulating hormone receptor
FUS FUS RNA binding protein
GBA glucosidase, beta, acid
GDNF glial cell derived neurotrophic factor
GLA galactosidase, alpha
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2C guanylate cyclase 2C
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HEXB hexosaminidase B (beta polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
HPS1 Hermansky-Pudlak syndrome 1
IGHV4-34 immunoglobulin heavy variable 4-34
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IL6 interleukin 6
JAK2 Janus kinase 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LPL lipoprotein lipase
LRP5 low density lipoprotein receptor-related protein 5
MALT1 MALT1 paracaspase
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MLH1 mutL homolog 1
MLYCD malonyl-CoA decarboxylase
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
ND1
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NRTN neurturin
OPLAH 5-oxoprolinase (ATP-hydrolysing)
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
POU6F2 POU class 6 homeobox 2
PPOX protoporphyrinogen oxidase
PRKCSH protein kinase C substrate 80K-H
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
SCARB2 scavenger receptor class B, member 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC63 SEC63 homolog (S. cerevisiae)
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMAD4 SMAD family member 4
SOX10 SRY (sex determining region Y)-box 10
SPINK1 serine peptidase inhibitor, Kazal type 1
STAT4 signal transducer and activator of transcription 4
STK11 serine/threonine kinase 11
TBL2 transducin (beta)-like 2
TET2 tet methylcytosine dioxygenase 2
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYMP thymidine phosphorylase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WT1 Wilms tumor 1