PedAM

Pediatric Disease Annotations & Medicines


	irritable bowel syndrome

Disease ID	389
Disease	irritable bowel syndrome
Definition	chronic noninflammatory disease characterized by abdominal pain, altered bowel habits consisting of diarrhea or constipation or both, and no detectable pathologic change; a variant form is characterized by painless diarrhea; it is a common disorder with a psychophysiologic basis; called also spastic or irritable colon.
Synonym	#NAME? [x]psychogenic ibs adaptive colitis bowel disease irritable bowel ibs irritable syndrome bowel syndrome irritable bowels irritable bowels irritable syndrome colitides, mucous colitis mucous colitis, mucous colon irritable colon spasm colon spasms colon spastic colon, irritable colon, spastic colons spastic disease irritable bowel functional bowel disease functional bowel syndrome ibs ibs (irritable bowel syndrome) ibs - irritable bowel syndrome ic - irritable colon irritable bowel irritable bowel - ibs irritable bowel disease (ibd) irritable bowel syndrome (disorder) irritable bowel syndrome (ibs) irritable bowel syndrome [disease/finding] irritable bowel syndromes irritable colon irritable colon (disorder) irritable colon - irritable bowel syndrome irritable colon syndrome membranous colitis mucous colitides mucous colitis mucus colitis nervous colitis spastic colitis spastic colon syndrome irritable bowel syndrome, irritable bowel syndromes, irritable bowel
OMIM	OMIM:146800
DOID	DOID:9778
UMLS	C0022104
MeSH	D043183
SNOMED-CT	SNOMEDCT_US_2016_09_01:10743008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:74) C0009806 \| constipation \| 59 C0011991 \| diarrhea \| 49 C0011991 \| diarrhoea \| 12 C0021831 \| bowel disease \| 9 C0011570 \| depression \| 9 C0021390 \| inflammatory bowel disease \| 9 C0003467 \| anxiety \| 8 C0007570 \| celiac disease \| 8 C0024523 \| malabsorption \| 5 C0009319 \| colitis \| 4 C0017168 \| oesophageal reflux \| 4 C0017168 \| esophageal reflux \| 4 C0017168 \| gastroesophageal reflux \| 4 C0025162 \| toxic megacolon \| 3 C0017168 \| gastroesophageal reflux disease \| 3 C0017168 \| esophageal reflux disease \| 3 C0007570 \| coeliac disease \| 3 C0013395 \| dyspepsia \| 3 C0016053 \| fibromyalgia \| 3 C0004096 \| asthma \| 3 C0025160 \| megacolon \| 2 C0035258 \| restless legs \| 2 C0004936 \| mental disorders \| 2 C0022951 \| lactose malabsorption \| 2 C0149931 \| migraine \| 2 C0022951 \| lactose intolerance \| 2 C0035258 \| restless legs syndrome \| 2 C0400821 \| microscopic colitis \| 2 C0019112 \| haemorrhoids \| 1 C2267227 \| bulimia nervosa \| 1 C0343386 \| clostridium difficile infection \| 1 C0022116 \| ischemia \| 1 C0019196 \| hepatitis c \| 1 C0042870 \| vitamin d defic \| 1 C0003469 \| anxiety disorders \| 1 C0162529 \| ischemic colitis \| 1 C0242350 \| erectile dysfunction \| 1 C0009402 \| colorectal cancer \| 1 C0019158 \| hepatitis \| 1 C0035258 \| restless legs syndrome (rls) \| 1 C0029456 \| osteoporosis \| 1 C0017160 \| gastroenteritis \| 1 C0010674 \| cystic fibrosis \| 1 C0017178 \| gastrointestinal disorders \| 1 C0026267 \| mitral valve prolapse \| 1 C0017178 \| gastrointestinal diseases \| 1 C0021831 \| intestinal diseases \| 1 C0001206 \| acromegaly \| 1 C0042961 \| volvulus \| 1 C0002871 \| anaemia \| 1 C0023895 \| liver disease \| 1 C0007113 \| rectal cancer \| 1 C0012813 \| diverticulitis \| 1 C0017178 \| gastrointestinal disorder \| 1 C0021831 \| enteropathy \| 1 C0037317 \| sleep disturbance \| 1 C0020437 \| hypercalcaemia \| 1 C0014175 \| endometriosis \| 1 C0016470 \| food allergy \| 1 C0027947 \| neutropenia \| 1 C0038436 \| post-traumatic stress disorder \| 1 C0016751 \| fructose intolerance \| 1 C0079731 \| b-cell lymphoma \| 1 C0011847 \| diabetes \| 1 C0003469 \| anxiety disorder \| 1 C0042870 \| vitamin d deficiency \| 1 C0021831 \| bowel disorders \| 1 C0016470 \| food hypersensitivity \| 1 C0004943 \| behcet disease \| 1 C0017178 \| gastrointestinal disease \| 1 C0021831 \| intestinal disease \| 1 C0032987 \| ectopic pregnancy \| 1 C0006370 \| bulimia \| 1 C0024299 \| lymphoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) IL10 \| 3586 \| CTD_human SPATA5 \| 166378 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 150 \| ADRA2A \| infer 152 \| ADRA2C \| infer 885 \| CCK \| infer 2264 \| FGFR4 \| infer 2784 \| GNB3 \| infer 3356 \| HTR2A \| infer 3439 \| IFNA1 \| infer 3458 \| IFNG \| infer 3586 \| IL10 \| infer 3552 \| IL1A \| infer 3553 \| IL1B \| infer 3554 \| IL1R1 \| infer 3557 \| IL1RN \| infer 3558 \| IL2 \| infer 3565 \| IL4 \| infer 3569 \| IL6 \| infer 5020 \| OXT \| infer 5021 \| OXTR \| infer 6331 \| SCN5A \| infer 6532 \| SLC6A4 \| infer 7039 \| TGFA \| infer 7040 \| TGFB1 \| infer 7124 \| TNF \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:277) 1080 \| CFTR \| DISEASES 51087 \| YBX2 \| DISEASES 55359 \| STYK1 \| DISEASES 29850 \| TRPM5 \| DISEASES 51052 \| PRLH \| DISEASES 6343 \| SCT \| DISEASES 27248 \| ERLEC1 \| DISEASES 23505 \| TMEM131 \| DISEASES 28954 \| REM1 \| DISEASES 8550 \| MAPKAPK5 \| DISEASES 9552 \| SPAG7 \| DISEASES 7414 \| VCL \| DISEASES 8174 \| MADCAM1 \| DISEASES 1113 \| CHGA \| DISEASES 5173 \| PDYN \| DISEASES 5020 \| OXT \| DISEASES 51311 \| TLR8 \| DISEASES 479 \| ATP12A \| DISEASES 2862 \| MLNR \| DISEASES 4210 \| MEFV \| DISEASES 343 \| AQP8 \| DISEASES 123263 \| MTFMT \| DISEASES 29106 \| SCG3 \| DISEASES 973 \| CD79A \| DISEASES 4353 \| MPO \| DISEASES 6347 \| CCL2 \| DISEASES 5539 \| PPY \| DISEASES 3381 \| IBSP \| DISEASES 3458 \| IFNG \| DISEASES 4848 \| CNOT2 \| DISEASES 2784 \| GNB3 \| DISEASES 10279 \| PRSS16 \| DISEASES 3565 \| IL4 \| DISEASES 2908 \| NR3C1 \| DISEASES 2779 \| GNAT1 \| DISEASES 80306 \| MED28 \| DISEASES 4852 \| NPY \| DISEASES 35 \| ACADS \| DISEASES 2166 \| FAAH \| DISEASES 696 \| BTN1A1 \| DISEASES 2806 \| GOT2 \| DISEASES 6555 \| SLC10A2 \| DISEASES 8189 \| SYMPK \| DISEASES 2797 \| GNRH2 \| DISEASES 27128 \| CYTH4 \| DISEASES 23780 \| APOL2 \| DISEASES 7166 \| TPH1 \| DISEASES 6320 \| CLEC11A \| DISEASES 7837 \| PXDN \| DISEASES 9945 \| GFPT2 \| DISEASES 1401 \| CRP \| DISEASES 4922 \| NTS \| DISEASES 2949 \| GSTM5 \| DISEASES 59340 \| HRH4 \| DISEASES 152831 \| KLB \| DISEASES 3357 \| HTR2B \| DISEASES 11014 \| KDELR2 \| DISEASES 3569 \| IL6 \| DISEASES 7097 \| TLR2 \| DISEASES 9177 \| HTR3B \| DISEASES 1559 \| CYP2C9 \| DISEASES 9360 \| PPIG \| DISEASES 2984 \| GUCY2C \| DISEASES 55745 \| AP5M1 \| DISEASES 6532 \| SLC6A4 \| DISEASES 59341 \| TRPV4 \| DISEASES 23197 \| FAF2 \| DISEASES 8989 \| TRPA1 \| DISEASES 495 \| ATP4A \| DISEASES 57787 \| MARK4 \| DISEASES 9132 \| KCNQ4 \| DISEASES 27134 \| TJP3 \| DISEASES 3682 \| ITGAE \| DISEASES 5024 \| P2RX3 \| DISEASES 3553 \| IL1B \| DISEASES 51430 \| SUCO \| DISEASES 3938 \| LCT \| DISEASES 8942 \| KYNU \| DISEASES 5443 \| POMC \| DISEASES 6550 \| SLC9A3 \| DISEASES 11343 \| MGLL \| DISEASES 6507 \| SLC1A3 \| DISEASES 4986 \| OPRK1 \| DISEASES 1181 \| CLCN2 \| DISEASES 286 \| ANK1 \| DISEASES 5286 \| PIK3C2A \| DISEASES 775 \| CACNA1C \| DISEASES 3695 \| ITGB7 \| DISEASES 90527 \| DUOXA1 \| DISEASES 23432 \| GPR161 \| DISEASES 57530 \| CGN \| DISEASES 90226 \| UCN2 \| DISEASES 2169 \| FABP2 \| DISEASES 3578 \| IL9 \| DISEASES 2796 \| GNRH1 \| DISEASES 1392 \| CRH \| DISEASES 3934 \| LCN2 \| DISEASES 2904 \| GRIN2B \| DISEASES 3176 \| HNMT \| DISEASES 150 \| ADRA2A \| DISEASES 51232 \| CRIM1 \| DISEASES 7082 \| TJP1 \| DISEASES 84959 \| UBASH3B \| DISEASES 7345 \| UCHL1 \| DISEASES 9073 \| CLDN8 \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 50848 \| F11R \| DISEASES 6271 \| S100A1 \| DISEASES 2264 \| FGFR4 \| DISEASES 1990 \| CELA1 \| DISEASES 4041 \| LRP5 \| DISEASES 9965 \| FGF19 \| DISEASES 23498 \| HAAO \| DISEASES 9076 \| CLDN1 \| DISEASES 886 \| CCKAR \| DISEASES 60675 \| PROK2 \| DISEASES 152185 \| SPICE1 \| DISEASES 213 \| ALB \| DISEASES 7349 \| UCN \| DISEASES 2150 \| F2RL1 \| DISEASES 7098 \| TLR3 \| DISEASES 107 \| ADCY1 \| DISEASES 9311 \| ASIC3 \| DISEASES 360 \| AQP3 \| DISEASES 338339 \| CLEC4D \| DISEASES 6866 \| TAC3 \| DISEASES 2923 \| PDIA3 \| DISEASES 9780 \| PIEZO1 \| DISEASES 10653 \| SPINT2 \| DISEASES 956 \| ENTPD3 \| DISEASES 4054 \| LTBP3 \| DISEASES 143501 \| C11orf40 \| DISEASES 6870 \| TACR3 \| DISEASES 6869 \| TACR1 \| DISEASES 10887 \| PROKR1 \| DISEASES 83935 \| TMEM133 \| DISEASES 5028 \| P2RY1 \| DISEASES 3596 \| IL13 \| DISEASES 23636 \| NUP62 \| DISEASES 2353 \| FOS \| DISEASES 24146 \| CLDN15 \| DISEASES 5029 \| P2RY2 \| DISEASES 64236 \| PDLIM2 \| DISEASES 998 \| CDC42 \| DISEASES 3350 \| HTR1A \| DISEASES 246213 \| SLC17A8 \| DISEASES 89872 \| AQP10 \| DISEASES 27319 \| BHLHE22 \| DISEASES 6863 \| TAC1 \| DISEASES 9242 \| MSC \| DISEASES 170572 \| HTR3C \| DISEASES 79054 \| TRPM8 \| DISEASES 55191 \| NADSYN1 \| DISEASES 6331 \| SCN5A \| DISEASES 2520 \| GAST \| DISEASES 7127 \| TNFAIP2 \| DISEASES 503841 \| DEFB106B \| DISEASES 51738 \| GHRL \| DISEASES 957 \| ENTPD5 \| DISEASES 245909 \| DEFB106A \| DISEASES 285242 \| HTR3E \| DISEASES 887 \| CCKBR \| DISEASES 885 \| CCK \| DISEASES 9075 \| CLDN2 \| DISEASES 4987 \| OPRL1 \| DISEASES 3363 \| HTR7 \| DISEASES 554 \| AVPR2 \| DISEASES 23436 \| CELA3B \| DISEASES 3185 \| HNRNPF \| DISEASES 7100 \| TLR5 \| DISEASES 222236 \| NAPEPLD \| DISEASES 80320 \| SP6 \| DISEASES 1395 \| CRHR2 \| DISEASES 8780 \| RIOK3 \| DISEASES 9588 \| PRDX6 \| DISEASES 1364 \| CLDN4 \| DISEASES 5585 \| PKN1 \| DISEASES 22953 \| P2RX2 \| DISEASES 7177 \| TPSAB1 \| DISEASES 155 \| ADRB3 \| DISEASES 56479 \| KCNQ5 \| DISEASES 1861 \| TOR1A \| DISEASES 538 \| ATP7A \| DISEASES 2879 \| GPX4 \| DISEASES 100506658 \| OCLN \| DISEASES 79849 \| PDZD3 \| DISEASES 3359 \| HTR3A \| DISEASES 146059 \| CDAN1 \| DISEASES 2980 \| GUCA2A \| DISEASES 6364 \| CCL20 \| DISEASES 5697 \| PYY \| DISEASES 4638 \| MYLK \| DISEASES 1565 \| CYP2D6 \| DISEASES 54106 \| TLR9 \| DISEASES 3360 \| HTR4 \| DISEASES 2673 \| GFPT1 \| DISEASES 56477 \| CCL28 \| DISEASES 1312 \| COMT \| DISEASES 7096 \| TLR1 \| DISEASES 7052 \| TGM2 \| DISEASES 388743 \| CAPN8 \| DISEASES 2058 \| EPRS \| DISEASES 5784 \| PTPN14 \| DISEASES 7432 \| VIP \| DISEASES 127833 \| SYT2 \| DISEASES 5743 \| PTGS2 \| DISEASES 26002 \| MOXD1 \| DISEASES 6283 \| S100A12 \| DISEASES 6281 \| S100A10 \| DISEASES 6944 \| VPS72 \| DISEASES 1520 \| CTSS \| DISEASES 6975 \| TECTB \| DISEASES 1268 \| CNR1 \| DISEASES 4803 \| NGF \| DISEASES 119392 \| SFR1 \| DISEASES 2010 \| EMD \| DISEASES 2564 \| GABRE \| DISEASES 89885 \| FATE1 \| DISEASES 959 \| CD40LG \| DISEASES 2981 \| GUCA2B \| DISEASES 5453 \| POU3F1 \| DISEASES 6865 \| TACR2 \| DISEASES 2739 \| GLO1 \| DISEASES 7099 \| TLR4 \| DISEASES 9966 \| TNFSF15 \| DISEASES 1269 \| CNR2 \| DISEASES 5030 \| P2RY4 \| DISEASES 229 \| ALDOB \| DISEASES 3055 \| HCK \| DISEASES 50943 \| FOXP3 \| DISEASES 3274 \| HRH2 \| DISEASES 11332 \| ACOT7 \| DISEASES 9445 \| ITM2B \| DISEASES 3356 \| HTR2A \| DISEASES 133482 \| SLCO6A1 \| DISEASES 114131 \| UCN3 \| DISEASES 25849 \| PARM1 \| DISEASES 8777 \| MPDZ \| DISEASES 10333 \| TLR6 \| DISEASES 200909 \| HTR3D \| DISEASES 7932 \| OR2H2 \| DISEASES 9290 \| GPR55 \| DISEASES 654364 \| NME1-NME2 \| DISEASES 2172 \| FABP6 \| DISEASES 5627 \| PROS1 \| DISEASES 51520 \| LARS \| DISEASES 91807 \| MYLK3 \| DISEASES 100131390 \| SP9 \| DISEASES 23475 \| QPRT \| DISEASES 89797 \| NAV2 \| DISEASES 272 \| AMPD3 \| DISEASES 3269 \| HRH1 \| DISEASES 594857 \| NPS \| DISEASES 1394 \| CRHR1 \| DISEASES 7442 \| TRPV1 \| DISEASES 643418 \| LIPN \| DISEASES 30010 \| NXPH1 \| DISEASES 6335 \| SCN9A \| DISEASES 2641 \| GCG \| DISEASES 4295 \| MLN \| DISEASES 522 \| ATP5J \| DISEASES 4988 \| OPRM1 \| DISEASES 7124 \| TNF \| DISEASES 196527 \| ANO6 \| DISEASES 3586 \| IL10 \| DISEASES 5527 \| PPP2R5C \| DISEASES 627 \| BDNF \| DISEASES 151306 \| GPBAR1 \| DISEASES 4914 \| NTRK1 \| DISEASES 4925 \| NUCB2 \| DISEASES 9414 \| TJP2 \| DISEASES 11331 \| PHB2 \| DISEASES 9971 \| NR1H4 \| DISEASES 162514 \| TRPV3 \| DISEASES 100124700 \| HOTAIR \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	389
Disease	irritable bowel syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0002019 \| Dyschezia \| 59 HP:0002014 \| Diarrhea \| 49 HP:0012531 \| Pain \| 38 HP:0002027 \| Abdominal pain \| 18 HP:0000716 \| Depression \| 9 HP:0001548 \| Overgrowth \| 9 HP:0000739 \| Anxiety \| 8 HP:0002608 \| Celiac disease \| 8 HP:0003270 \| Distended abdomen \| 7 HP:0002020 \| Heartburn \| 6 HP:0002024 \| Intestinal malabsorption \| 5 HP:0002583 \| Colitis \| 4 HP:0012450 \| Chronic constipation \| 4 HP:0011458 \| Abdominal symptom \| 4 HP:0002099 \| Asthma \| 3 HP:0002028 \| Chronic diarrhea \| 3 HP:0012452 \| Restless legs \| 2 HP:0002251 \| Hirschsprung megacolon \| 2 HP:0012537 \| Food intolerance \| 2 HP:0004789 \| Lactose intolerance \| 2 HP:0002076 \| Migraine headaches \| 2 HP:0010867 \| Dyssynergia \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0001875 \| Neutropenia \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0002242 \| Enteropathy \| 1 HP:0100739 \| Binge and purge \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0000989 \| pruritis \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001903 \| Anemia \| 1 HP:0012393 \| Allergy \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0002254 \| Intermittent diarrhea \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0005973 \| Fructose intolerance \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0002580 \| Volvulus \| 1 HP:0002315 \| Headaches \| 1 HP:0000802 \| Erectile dysfunction \| 1 HP:0030127 \| Endometriosis \| 1 HP:0002883 \| Rapid breathing \| 1 HP:0001634 \| Mitral valve prolapse \| 1 HP:0100512 \| Vitamin D deficiency \| 1

Disease ID	389
Disease	irritable bowel syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:39) C0009806 \| constipation \| 59 C0011991 \| diarrhea \| 49 C0030193 \| pain \| 34 C0000737 \| abdominal pain \| 16 C1994997 \| intestinal symptoms \| 12 C0426576 \| gastrointestinal symptoms \| 11 C0011570 \| depression \| 9 C0011991 \| diarrhoea \| 9 C0003467 \| anxiety \| 7 C0024523 \| malabsorption \| 5 C0234245 \| visceral pain \| 4 C1291077 \| bloating \| 4 C0267167 \| functional dyspepsia \| 4 C0401149 \| chronic constipation \| 3 C0016053 \| fibromyalgia \| 3 C0009450 \| infection \| 3 C0231303 \| distress \| 3 C0022951 \| lactose intolerance \| 2 C1839611 \| n syndrome \| 2 C0022951 \| lactose malabsorption \| 2 C0184567 \| acute pain \| 2 C0149696 \| food intolerance \| 2 C0035258 \| restless legs syndrome \| 2 C0277528 \| travelers' diarrhea \| 1 C0017178 \| gastrointestinal disorder \| 1 C0021831 \| bowel disorders \| 1 C0002111 \| allergy \| 1 C0016470 \| food hypersensitivity \| 1 C0232717 \| rectal sensation \| 1 C1446787 \| cramping \| 1 C0233401 \| psychiatric symptoms \| 1 C1291077 \| abdominal bloating \| 1 C0162529 \| ischaemic colitis \| 1 C0016470 \| food allergy \| 1 C0278008 \| altered bowel habits \| 1 C0426359 \| urinary symptoms \| 1 C0085313 \| blastocystis infection \| 1 C1535943 \| pelvic floor dyssynergia \| 1 C0034886 \| rectal pain \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:30)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11190140	21803625	159296	NKX2-3	umls:C0022104	BeFree	NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT.	0.000542884	2011	NKX2-3;LINC01475	10	99531836	T	C
rs137854608	19056759	6331	SCN5A	umls:C0022104	BeFree	In conclusion, the G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of IBS.	0.005634266	2009	SCN5A	3	38609776	C	T
rs1464510	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	LPP	3	188394766	C	T,A
rs17837965	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	CDC42	1	22068132	A	G
rs1861494	25171510	3458	IFNG	umls:C0022104	BeFree	IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both IFNG methylation and protein secretion.	0.002638474	2015	IFNG	12	68157629	C	T
rs1881457	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	IL13;LOC101927761	5	132656717	A	C
rs2015062	19147801	4512	COX1	umls:C0022104	GAD	[Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.]	0.002367032	2009	COX1	MT	7028	C	T
rs2104286	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	IL2RA	10	6057082	T	C
rs2241880	18671817	55054	ATG16L1	umls:C0022104	BeFree	ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity.	0.000814326	2008	ATG16L1;SCARNA5	2	233274722	A	G
rs2349775	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	NXPH1	7	8678450	G	A
rs245051	24041540	3559	IL2RA	umls:C0022104	BeFree	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (Puncorrected<0.05).	0.000271442	2014	SLC26A2	5	149966412	A	G
rs25531	19125330	6532	SLC6A4	umls:C0022104	BeFree	In this exploratory study we therefore expanded the search for a possible association of the serotonin transporter with irritable bowel syndrome to include not only the 5-HTTLPR and Stin2 VNTR length polymorphisms, but also the functional single nucleotide polymorphism rs25531.	0.045644637	2009	SLC6A4;LOC105371720	17	30237328	T	C
rs25531	19125330	6532	SLC6A4	umls:C0022104	GAD	[In this exploratory study we therefore expanded the search for a possible association of the serotonin transporter with irritable bowel syndrome to include not only the 5-HTTLPR and Stin2 VNTR length polymorphisms, but also the functional single nucleotide polymorphism rs25531.]	0.045644637	2009	SLC6A4;LOC105371720	17	30237328	T	C
rs386602276	15232358	3356	HTR2A	umls:C0022104	BeFree	Association of the -1438 G/A and 102 T/C polymorphism of the 5-Ht2A receptor gene with irritable bowel syndrome 5-Ht2A gene polymorphism in irritable bowel syndrome.	0.002909916	2004	NA	NA	NA	NA	NA
rs3928306	19147801	4550	RNR2	umls:C0022104	GAD	[Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.]	0.002367032	2009	NA	MT	3010	G	A
rs4263839	25824902	9966	TNFSF15	umls:C0022104	BeFree	Our meta-analysis could not confirm a major role of most investigated SNPs, but a moderate association between rs4263839 TNFSF15 and IBS, in particular IBS-C.	0.001628651	2015	TNFSF15	9	114804160	A	G
rs4680	23110189	1312	COMT	umls:C0022104	BeFree	Catechol-O-methyltransferase val158met polymorphism predicts placebo effect in irritable bowel syndrome.	0.001357209	2012	COMT;MIR4761	22	19963748	G	A
rs4680	21437260	1312	COMT	umls:C0022104	BeFree	The relationship between the val158met catechol-O-methyltransferase (COMT) polymorphism and irritable bowel syndrome.	0.001357209	2011	COMT;MIR4761	22	19963748	G	A
rs4795541	18511740	6532	SLC6A4	umls:C0022104	GAD	[There were significant associations between 5-HTTLPR SS genotype and absence of IBS symptoms and between 5-HTTLPR LS/SS genotype and increased rectal compliance and increased pain ratings, particularly at 12 and 24 mmHg distensions.]	0.045644637	2008	NA	NA	NA	NA	NA
rs4988235	19943975	5021	OXTR	umls:C0022104	BeFree	Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously evaluated patients with Irritable Bowel Syndrome (IBS), 408 homozygous subjects referred for lactase (LCT-13910 C>T, rs4988235) genotyping, and 299 asymptomatic blood donors were compared.	0.002638474	2009	MCM6	2	135851076	G	C,A
rs4988235	19943975	3938	LCT	umls:C0022104	BeFree	Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously evaluated patients with Irritable Bowel Syndrome (IBS), 408 homozygous subjects referred for lactase (LCT-13910 C>T, rs4988235) genotyping, and 299 asymptomatic blood donors were compared.	0.005276948	2009	MCM6	2	135851076	G	C,A
rs4988235	19943975	5020	OXT	umls:C0022104	BeFree	Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously evaluated patients with Irritable Bowel Syndrome (IBS), 408 homozygous subjects referred for lactase (LCT-13910 C>T, rs4988235) genotyping, and 299 asymptomatic blood donors were compared.	0.002638474	2009	MCM6	2	135851076	G	C,A
rs5443	18511740	2784	GNB3	umls:C0022104	GAD	[Candidate genes and sensory functions in health and irritable bowel syndrome.]	0.012920927	2008	GNB3;CDCA3	12	6845711	C	T
rs5443	19174793	2784	GNB3	umls:C0022104	BeFree	We evaluated the association of the GNB3 C825T polymorphism with GERD and GERD subgroups classified according to esophageal acid exposure time, symptom-reflux correlation, or coexistence of FD and/or irritable bowel syndrome (IBS) symptoms.	0.012920927	2009	GNB3;CDCA3	12	6845711	C	T
rs5443	19034965	2784	GNB3	umls:C0022104	BeFree	Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype.	0.012920927	2008	GNB3;CDCA3	12	6845711	C	T
rs62636489	17509943	3856	KRT8	umls:C0022104	BeFree	A novel but rare keratin-8 Arg341-to-Cys is identified in IBD patients.	0.000271442	2007	KRT8	12	52898860	G	A
rs6313	15232358	3356	HTR2A	umls:C0022104	BeFree	Association of the -1438 G/A and 102 T/C polymorphism of the 5-Ht2A receptor gene with irritable bowel syndrome 5-Ht2A gene polymorphism in irritable bowel syndrome.	0.002909916	2004	HTR2A	13	46895805	G	A
rs7574865	22569826	6775	STAT4	umls:C0022104	BeFree	Moreover, a significant correlation between risk alleles and methylation status at -172 of the STAT4 promoter was observed, and mRNA levels of STAT4 in IBD patients were correlated inversely with the T-risk allele (rs7574865).	0.000271442	2012	STAT4	2	191099907	T	G
rs806378	21803011	56144	PCDHA4	umls:C0022104	BeFree	CNR1 rs806378 (CC vs CT/TT) appeared to affect fasting proximal MI in all patients with IBS (P = .075).	0.000814326	2011	CNR1	6	88149832	C	T
rs9999118	24797007	166378	SPATA5	umls:C0022104	GWASCAT	Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.	0.12	2014	SPATA5	4	123130312	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:2)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
4	124051467	rs9999118	A	G	rs9999118	24797007	8.00E-08	(IBS-D )	7.3	[3.53-15.03]	Up to 172 European ancestry cases; 1,398 European ancestry controls	European(1570)	ALL(1570)	EUR(1570)	ALL(1570)	Irritable bowel syndrome	HPOID:0011024	Abnormality of the gastrointestinal tract	DOID:9778	irritable bowel syndrome	D043183	Irritable Bowel Syndrome	NA	NA	NA	rs9999118-G	NA	A	SPATA5
10	55955610	rs10825269	C	T	rs10825269	24797007	5.00E-06	NA	1.55	[1.28-1.87]	Up to 172 European ancestry cases; 1,398 European ancestry controls	European(1570)	ALL(1570)	EUR(1570)	ALL(1570)	Irritable bowel syndrome	HPOID:0011024	Abnormality of the gastrointestinal tract	DOID:9778	irritable bowel syndrome	D043183	Irritable Bowel Syndrome	NA	NA	NA	rs10825269-T	NA	T,A	PCDH15

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0022104	gabapentin	C040029	60142-96-3	irritable bowel syndrome	MESH:D043183	therapeutic	16268973

FDA approved drug and dosage information(Total Drugs:7)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D043183	neurontin	gabapentin	100MG	CAPSULE;ORAL	Prescription	AB	Yes	No
MESH:D043183	neurontin	gabapentin	600MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D043183	neurontin	gabapentin	250MG/5ML	SOLUTION;ORAL	Prescription	AA	Yes	Yes
MESH:D043183	neurontin	gabapentin	0	SOLUTION; ORAL	Prescription	None	No	No
MESH:D043183	neurontin	gabapentin	600MG	TABLET; ORAL	Prescription	None	No	No
MESH:D043183	neurontin	gabapentin	800MG	CAPSULE; ORAL	Prescription	None	No	No
MESH:D043183	neurontin	gabapentin	250MG/5ML	SOLUTION; ORAL	Prescription	None	No	No

FDA labeling changes(Total Drugs:7)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D043183	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'