esophagitis |
Disease ID | 384 |
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Disease | esophagitis |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0017168 | gastroesophageal reflux | 14 C0011168 | dysphagia | 9 C0004096 | asthma | 2 C0009814 | stenosis | 2 C0030809 | pemphigus vulgaris | 2 C0030193 | pain | 2 C0005403 | bile reflux | 1 C0017168 | gastro-oesophageal reflux | 1 C0008031 | chest pain | 1 C0422833 | ent symptoms | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:16) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1032757 | 20208534 | 92270 | ATP6AP1L | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | NA | 5 | 82643499 | G | A |
rs1051266 | 25041994 | 6573 | SLC19A1 | umls:C0014868 | BeFree | In addition, there was a trend toward reduced hematological toxicity among patients with variants of SLC19A1 G80A in treatment arm 1 (P for trend, .06) and reduced esophagitis/stomatitis noted among patients with variants of TSER in treatment arm 3 (P for trend, .06). | 0.000271442 | 2014 | SLC19A1 | 21 | 45537880 | T | C |
rs11989782 | 20208534 | 6641 | SNTB1 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | SNTB1 | 8 | 120682410 | C | A |
rs13106227 | 20208534 | 57619 | SHROOM3 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | SHROOM3 | 4 | 76497528 | G | A |
rs13278732 | 20208534 | 203111 | ERICH5 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | ERICH5 | 8 | 98076353 | C | T |
rs167769 | 20208534 | 6778 | STAT6 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | STAT6 | 12 | 57109992 | C | T |
rs1939875 | 20208534 | 143686 | SESN3 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | NA | 11 | 95689703 | A | G |
rs1986734 | 20208534 | 57619 | SHROOM3 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | SHROOM3 | 4 | 76499631 | C | T |
rs20417 | 20811626 | 5743 | PTGS2 | umls:C0014868 | BeFree | For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including three PTGS2 (COX2) variants: rs20417 (HR:1.93, 95% CI:1.10-3.39), rs5275 (HR:1.58, 95% CI:1.09-2.27), and rs689470 (HR:3.38, 95% CI:1.09-10.49). | 0.001085767 | 2010 | PTGS2;PACERR | 1 | 186681189 | C | G |
rs2224865 | 20208534 | 10718 | NRG3 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | NA | 10 | 83663098 | G | T |
rs371915 | 20208534 | 57707 | TLDC1 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | TLDC1 | 16 | 84544635 | A | G |
rs3806932 | 20208534 | 85480 | TSLP | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | TSLP | 5 | 111069977 | A | G |
rs386514057 | 25041994 | 6573 | SLC19A1 | umls:C0014868 | BeFree | In addition, there was a trend toward reduced hematological toxicity among patients with variants of SLC19A1 G80A in treatment arm 1 (P for trend, .06) and reduced esophagitis/stomatitis noted among patients with variants of TSER in treatment arm 3 (P for trend, .06). | 0.000271442 | 2014 | NA | NA | NA | NA | NA |
rs5275 | 20811626 | 5743 | PTGS2 | umls:C0014868 | BeFree | For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including three PTGS2 (COX2) variants: rs20417 (HR:1.93, 95% CI:1.10-3.39), rs5275 (HR:1.58, 95% CI:1.09-2.27), and rs689470 (HR:3.38, 95% CI:1.09-10.49). | 0.001085767 | 2010 | PTGS2 | 1 | 186673926 | A | G |
rs689470 | 20811626 | 5743 | PTGS2 | umls:C0014868 | BeFree | For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including three PTGS2 (COX2) variants: rs20417 (HR:1.93, 95% CI:1.10-3.39), rs5275 (HR:1.58, 95% CI:1.09-2.27), and rs689470 (HR:3.38, 95% CI:1.09-10.49). | 0.001085767 | 2010 | PTGS2 | 1 | 186671926 | G | T,C,A |
rs7236477 | 20208534 | 1828 | DSG1 | umls:C0014868 | GAD | [Common variants at 5q22 associate with pediatric eosinophilic esophagitis.] | 0.002367032 | 2010 | DSG1 | 18 | 31322359 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:14) | |||||||||||||||||||||||||||||
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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 |
3 | 176030096 | rs6799767 | G | T | rs6799767 | 20208534 | 4.00E-07 | NA | 1.49 | [1.18-1.85] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
4 | 77418681 | rs13106227 | G | A | rs13106227 | 20208534 | 4.00E-06 | NA | 1.52 | [1.20-1.92] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
4 | 77420784 | rs1986734 | C | T | rs1986734 | 20208534 | 1.00E-06 | NA | 1.54 | [1.22-1.89] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 81939318 | rs1032757 | G | A | rs1032757 | 20208534 | 2.00E-06 | NA | 1.96 | [1.40-2.74] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs1032757-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
5 | 110405675 | rs3806932 | A | G | rs3806932 | 20208534 | 3.00E-09 | NA | 1.85 | NA | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
6 | 58308955 | rs9500256 | G | A | rs9500256 | 20208534 | 5.00E-06 | NA | 2.04 | [1.52-2.70] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
8 | 99088581 | rs13278732 | C | T | rs13278732 | 20208534 | 6.00E-06 | NA | 1.31 | [1.04-1.65] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs13278732-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
8 | 121694650 | rs11989782 | C | A | rs11989782 | 20208534 | 7.00E-06 | NA | 1.53 | [1.21-1.93] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs11989782-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
10 | 85422854 | rs2224865 | G | T | rs2224865 | 20208534 | 9.00E-06 | NA | 1.44 | [1.15-1.79] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs2224865-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
11 | 95422867 | rs1939875 | A | G | rs1939875 | 20208534 | 3.00E-06 | NA | 1.54 | [1.22-1.93] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs1939875-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
12 | 57503775 | rs167769 | C | T | rs167769 | 20208534 | 2.00E-06 | NA | 1.36 | [1.10-1.69] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs167769-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
16 | 84578241 | rs371915 | A | G | rs371915 | 20208534 | 2.00E-08 | NA | 1.9 | [1.44-2.50] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
17 | 68291133 | rs6501384 | C | T | rs6501384 | 20208534 | 6.00E-06 | NA | 1.41 | [1.13-1.76] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs6501384-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
18 | 28902322 | rs7236477 | A | G | rs7236477 | 20208534 | 7.00E-06 | NA | 2.22 | [1.39-3.55] | 181 European descent adolescent cases; 1,974 European descent adolescent controls | European(2155) | ALL(2155) | EUR(2155) | ALL(2155) | Eosinophilic esophagitis (pediatric) | HPOID:0100633 | Esophagitis | DOID:13922 | eosinophilic esophagitis | D057765 | Eosinophilic Esophagitis | EFOID:0004594 | childhood eosinophilic esophagitis | Esophagitis | rs7236477-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:9) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0014868 | amifostine | D004999 | 20537-88-6 | esophagitis | MESH:D004941 | therapeutic | 9256128 | ||
C0014868 | cimetidine | D002927 | 51481-61-9 | esophagitis | MESH:D004941 | therapeutic | 11764863 | ||
C0014868 | cisplatin | D002945 | 15663-27-1 | esophagitis | MESH:D004941 | marker/mechanism | 21415776 | ||
C0014868 | fluorouracil | D005472 | 51-21-8 | esophagitis | MESH:D004941 | marker/mechanism | 16463059 | ||
C0014868 | lansoprazole | D064747 | - | esophagitis | MESH:D004941 | therapeutic | 11142573 | ||
C0014868 | omeprazole | D009853 | 73590-58-6 | esophagitis | MESH:D004941 | therapeutic | 11519776 | ||
C0014868 | paclitaxel | D017239 | - | esophagitis | MESH:D004941 | marker/mechanism | 14760117 | ||
C0014868 | pantoprazole | C064276 | 102625-70-7 | esophagitis | MESH:D004941 | therapeutic | 11519776 | ||
C0014868 | ticlopidine | D013988 | 55142-85-3 | esophagitis | MESH:D004941 | marker/mechanism | 11960063 |
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
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DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D004941 | prilosec | omeprazole | 20MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE, DELAYED REL PELLETS;ORAL | Discontinued | None | Yes | No |
MESH:D004941 | prilosec | omeprazole | 20MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE, DELAYED REL PELLETS;ORAL | Discontinued | None | Yes | No |
MESH:D004941 | omeprazole | omeprazole | 20MG | TABLET, DELAYED RELEASE;ORAL | Over-the-counter | None | Yes | Yes |
MESH:D004941 | omeprazole | omeprazole | 20MG | TABLET, DELAYED RELEASE;ORAL | Over-the-counter | None | Yes | Yes |
MESH:D004941 | prevacid | lansoprazole | 15MG | CAPSULE, DELAYED REL PELLETS;ORAL | Prescription | AB | Yes | No |
MESH:D004941 | prevacid | lansoprazole | 15MG/PACKET | FOR SUSPENSION, DELAYED RELEASE;ORAL | Discontinued | None | No | No |
MESH:D004941 | prevacid | lansoprazole | 15MG | TABLET, DELAYED RELEASE, ORALLY DISINTEGRATING;ORAL | Prescription | None | Yes | No |
MESH:D004941 | prevacid | lansoprazole | 15MG | CAPSULE, DELAYED REL PELLETS;ORAL | Prescription | AB | Yes | No |
MESH:D004941 | prevacid | lansoprazole | 15MG/PACKET | FOR SUSPENSION, DELAYED RELEASE;ORAL | Discontinued | None | No | No |
MESH:D004941 | prevacid | lansoprazole | 15MG | TABLET, DELAYED RELEASE, ORALLY DISINTEGRATING;ORAL | Prescription | None | Yes | No |
FDA labeling changes(Total Drugs:10) | |||||||||||||
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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:D004941 | 12/7/2002 | prilosec | omeprazole | Gastroesophageal reflux and erosive esophagitis | Safety and effectiveness established in pediatric patients 2-16 years of age Information on dose, PK parameters, exposure/response and AE profile | Labeling | B | - | - | - | AstraZeneca | - | FALSE' |
MESH:D004941 | 03/20/2008 | prilosec | omeprazole | Maintenance healing of erosive esophagitis | Efficacy was extrapolated from adults and older children to 1 to 2 year olds and supported with an open-label trial Unique adverse reactions in pediatric patients included increased respiratory system adverse events and fever. Safety and effectiveness in children less than 1 year of age have not been established Dosing and administration information provided for patients 1 year and older weighing at least 5 kg. New dosage form | Labeling | - | - | B, P | - | AstraZeneca | 1/5/2001 | FALSE' |
MESH:D004941 | 12/7/2002 | prilosec | omeprazole | Gastroesophageal reflux and erosive esophagitis | Safety and effectiveness established in pediatric patients 2-16 years of age Information on dose, PK parameters, exposure/response and AE profile | Labeling | B | - | - | - | AstraZeneca | - | FALSE' |
MESH:D004941 | 03/20/2008 | prilosec | omeprazole | Maintenance healing of erosive esophagitis | Efficacy was extrapolated from adults and older children to 1 to 2 year olds and supported with an open-label trial Unique adverse reactions in pediatric patients included increased respiratory system adverse events and fever. Safety and effectiveness in children less than 1 year of age have not been established Dosing and administration information provided for patients 1 year and older weighing at least 5 kg. New dosage form | Labeling | - | - | B, P | - | AstraZeneca | 1/5/2001 | FALSE' |
MESH:D004941 | 06/17/2004 | prevacid | lansoprazole | Short-term treatment of symptomatic GERD and erosive Esophagitis | Expanded age range to include patients 12 -17 years of age; previously labeled only in pediatric patients 1-11 years of age Safety and effectiveness in pediatric patients | Labeling | B | - | - | - | Tap | 07/15/2008 | FALSE' |
MESH:D004941 | 06/17/2004 | prevacid | lansoprazole | Short-term treatment of symptomatic GERD and erosive Esophagitis | Expanded age range to include patients 12 -17 years of age; previously labeled only in pediatric patients 1-11 years of age Safety and effectiveness in pediatric patients | Labeling | B | - | - | - | Tap | 07/15/2008 | FALSE' |
MESH:D004941 | 06/17/2004 | prevacid | lansoprazole | Short-term treatment of symptomatic GERD and erosive Esophagitis | Expanded age range to include patients 12 -17 years of age; previously labeled only in pediatric patients 1-11 years of age Safety and effectiveness in pediatric patients | Labeling | B | - | - | - | Tap | 07/15/2008 | FALSE' |
MESH:D004941 | 10/28/2008 | prevacid | lansoprazole | Symptomatic GERD in infants | Effectiveness was not established in a 4 week multicenter, double-blind, placebo-controlled study of patients 1 month and < 12 months of age AE profile similar to that observed in adultsInformation on PK parameters in neonates to < 1 year, and clinical studies | Labeling | - | - | B, P | - | Takeda | 07/15/2008 | FALSE' |
MESH:D004941 | 10/28/2008 | prevacid | lansoprazole | Symptomatic GERD in infants | Effectiveness was not established in a 4 week multicenter, double-blind, placebo-controlled study of patients 1 month and < 12 months of age AE profile similar to that observed in adultsInformation on PK parameters in neonates to < 1 year, and clinical studies | Labeling | - | - | B, P | - | Takeda | 07/15/2008 | FALSE' |
MESH:D004941 | 10/28/2008 | prevacid | lansoprazole | Symptomatic GERD in infants | Effectiveness was not established in a 4 week multicenter, double-blind, placebo-controlled study of patients 1 month and < 12 months of age AE profile similar to that observed in adultsInformation on PK parameters in neonates to < 1 year, and clinical studies | Labeling | - | - | B, P | - | Takeda | 07/15/2008 | FALSE' |