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Pediatric Disease Annotations & Medicines



   intestinal perforation
  

Disease ID 1030
Disease intestinal perforation
Definition
Opening or penetration through the wall of the INTESTINES.
Synonym
bowel perforated
bowel perforation
bowel perforations
bowels perforated
intestinal perforation [disease/finding]
intestinal perforations
intestine perforation
intestine, perforation
intestines perforation
peforation bowel
perforated bowel
perforation intestinal
perforation of intestine
perforation of intestine (disorder)
perforation of intestine, nos
perforation, intestinal
perforations, intestinal
DOID
UMLS
C0021845
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:48)
C0031154  |  peritonitis  |  26
C0041466  |  typhoid  |  5
C0009319  |  colitis  |  4
C0041466  |  typhoid fever  |  3
C0041296  |  tuberculosis  |  3
C0009402  |  colorectal cancer  |  2
C0007113  |  rectal cancer  |  2
C0520459  |  necrotizing enterocolitis  |  2
C0003873  |  rheumatoid arthritis  |  2
C1258215  |  ileus  |  2
C0019061  |  hemolytic uremic syndrome  |  1
C0008728  |  churg-strauss syndrome  |  1
C0034152  |  henoch-schonlein purpura  |  1
C0018801  |  cardiac failure  |  1
C0033687  |  proteinuria  |  1
C0278689  |  recurrent ovarian carcinoma  |  1
C0022116  |  ischemia  |  1
C0031036  |  polyarteritis nodosa  |  1
C0003864  |  arthritis  |  1
C0042384  |  vasculitis  |  1
C0585129  |  retroperitoneal sarcoma  |  1
C0019294  |  inguinal hernia  |  1
C0003615  |  appendicitis  |  1
C0275911  |  intestinal tuberculosis  |  1
C0029925  |  ovarian carcinoma  |  1
C0013370  |  amebic colitis  |  1
C0278883  |  metastatic melanoma  |  1
C0013990  |  emphysema  |  1
C0043092  |  wegener's granulomatosis  |  1
C0007570  |  celiac disease  |  1
C0265706  |  gastroschisis  |  1
C0026946  |  fungal infections  |  1
C0034063  |  pulmonary edema  |  1
C0013720  |  ehlers-danlos syndrome  |  1
C1140680  |  ovarian ca  |  1
C0006840  |  candidiasis  |  1
C0001622  |  hypercortisolism  |  1
C0011334  |  cavities  |  1
C0221406  |  cushing's disease  |  1
C0026946  |  fungal infection  |  1
C0004943  |  behcet's disease  |  1
C0002871  |  anemia  |  1
C0034150  |  purpura  |  1
C0013370  |  amoebic colitis  |  1
C0042961  |  volvulus  |  1
C0025202  |  melanoma  |  1
C0021845  |  bowel perforation  |  1
C0019294  |  inguinal hernias  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
NOS3  |  4846  |  CTD_human
IFNA2  |  3440  |  CTD_human
NOS1  |  4842  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:71)
4504  |  MT3  |  DISEASES
3002  |  GZMB  |  DISEASES
2937  |  GSS  |  DISEASES
10005  |  ACOT8  |  DISEASES
55907  |  CMAS  |  DISEASES
6678  |  SPARC  |  DISEASES
5657  |  PRTN3  |  DISEASES
54210  |  TREM1  |  DISEASES
3169  |  FOXA1  |  DISEASES
26133  |  TRPC4AP  |  DISEASES
445  |  ASS1  |  DISEASES
6538  |  SLC6A11  |  DISEASES
1401  |  CRP  |  DISEASES
3569  |  IL6  |  DISEASES
11019  |  LIAS  |  DISEASES
6521  |  SLC4A1  |  DISEASES
3682  |  ITGAE  |  DISEASES
943  |  TNFRSF8  |  DISEASES
5443  |  POMC  |  DISEASES
51176  |  LEF1  |  DISEASES
38  |  ACAT1  |  DISEASES
3700  |  ITIH4  |  DISEASES
8549  |  LGR5  |  DISEASES
4060  |  LUM  |  DISEASES
150094  |  SIK1  |  DISEASES
3439  |  IFNA1  |  DISEASES
8562  |  DENR  |  DISEASES
3087  |  HHEX  |  DISEASES
89780  |  WNT3A  |  DISEASES
4838  |  NODAL  |  DISEASES
6529  |  SLC6A1  |  DISEASES
8321  |  FZD1  |  DISEASES
7471  |  WNT1  |  DISEASES
4041  |  LRP5  |  DISEASES
213  |  ALB  |  DISEASES
4724  |  NDUFS4  |  DISEASES
1669  |  DEFA4  |  DISEASES
26585  |  GREM1  |  DISEASES
8313  |  AXIN2  |  DISEASES
1493  |  CTLA4  |  DISEASES
1281  |  COL3A1  |  DISEASES
23627  |  PRND  |  DISEASES
8061  |  FOSL1  |  DISEASES
2744  |  GLS  |  DISEASES
4684  |  NCAM1  |  DISEASES
28232  |  SLCO3A1  |  DISEASES
1668  |  DEFA3  |  DISEASES
3091  |  HIF1A  |  DISEASES
554  |  AVPR2  |  DISEASES
6540  |  SLC6A13  |  DISEASES
3767  |  KCNJ11  |  DISEASES
5625  |  PRODH  |  DISEASES
135250  |  RAET1E  |  DISEASES
4916  |  NTRK3  |  DISEASES
9760  |  TOX  |  DISEASES
7062  |  TCHH  |  DISEASES
262  |  AMD1  |  DISEASES
1755  |  DMBT1  |  DISEASES
4791  |  NFKB2  |  DISEASES
4068  |  SH2D1A  |  DISEASES
5832  |  ALDH18A1  |  DISEASES
7422  |  VEGFA  |  DISEASES
9966  |  TNFSF15  |  DISEASES
8874  |  ARHGEF7  |  DISEASES
1667  |  DEFA1  |  DISEASES
728358  |  DEFA1B  |  DISEASES
2524  |  FUT2  |  DISEASES
4145  |  MATK  |  DISEASES
3652  |  IPP  |  DISEASES
344022  |  NOTO  |  DISEASES
7072  |  TIA1  |  DISEASES
Locus(Waiting for update.)
Disease ID 1030
Disease intestinal perforation
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:36)
HP:0002586  |  Peritonitis  |  25
HP:0002583  |  Colitis  |  4
HP:0004387  |  Enterocolitis  |  3
HP:0002584  |  Intestinal hemorrhage  |  3
HP:0100806  |  Sepsis  |  3
HP:0001518  |  Small for gestational age  |  2
HP:0012531  |  Pain  |  2
HP:0001370  |  Rheumatoid arthritis  |  2
HP:0001945  |  Fever  |  2
HP:0100523  |  Hepatic abscess  |  2
HP:0002239  |  Gastrointestinal hemorrhage  |  2
HP:0002595  |  Gastrointestinal atony  |  2
HP:0002664  |  Neoplasia  |  2
HP:0030717  |  Meconium peritonitis  |  1
HP:0001643  |  Persistent ductus arteriosus  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0002105  |  Hemoptysis  |  1
HP:0001578  |  Hypercortisolism  |  1
HP:0100598  |  Pulmonary oedema  |  1
HP:0001903  |  Anemia  |  1
HP:0000023  |  Inguinal hernia  |  1
HP:0001369  |  Arthritis  |  1
HP:0002608  |  Celiac disease  |  1
HP:0002633  |  Vasculitis  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0003270  |  Distended abdomen  |  1
HP:0000093  |  Proteinuria  |  1
HP:0001543  |  Gastroschisis  |  1
HP:0100758  |  Gangrene  |  1
HP:0100790  |  Hernia  |  1
HP:0000979  |  Purpura  |  1
HP:0002580  |  Volvulus  |  1
HP:0000969  |  Dropsy  |  1
HP:0002097  |  Pulmonary emphysema  |  1
HP:0002861  |  Melanoma  |  1
Disease ID 1030
Disease intestinal perforation
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
C0031154  |  peritonitis  |  25
C0036690  |  sepsis  |  3
C0267373  |  intestinal bleeding  |  3
C0000727  |  acute abdomen  |  2
C0243001  |  abdominal abscess  |  1
C0000737  |  abdominal pain  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1801133249809466401SELEumls:C0021845BeFreeThe combination of the selectin E (SELE) rs3917412 G>A G/G and the methylentetrahydrofolate reductase (MTHFR) rs1801133 T/T genotypes was associated with a significantly increased risk for recurrence in both the training [RR = 4.103; 95% confidence interval (CI), 1.803-9.334; P = 0.001] and the validation cohorts (RR = 3.567; 95% CI, 1.253-10.151; P = 0.017) in the multiple regression analysis considering the stage, lymphovascular invasion, and bowel perforation as covariates.0.0002714422015MTHFR111796321GA
rs3917412249809466401SELEumls:C0021845BeFreeThe combination of the selectin E (SELE) rs3917412 G>A G/G and the methylentetrahydrofolate reductase (MTHFR) rs1801133 T/T genotypes was associated with a significantly increased risk for recurrence in both the training [RR = 4.103; 95% confidence interval (CI), 1.803-9.334; P = 0.001] and the validation cohorts (RR = 3.567; 95% CI, 1.253-10.151; P = 0.017) in the multiple regression analysis considering the stage, lymphovascular invasion, and bowel perforation as covariates.0.0002714422015SELE1169731361TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
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
C0021845indomethacinD00721353-86-1intestinal perforationMESH:D007416marker/mechanism12632374
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)