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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   eosinophilic esophagitis
  

Disease ID 175
Disease eosinophilic esophagitis
Definition
Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens.
Synonym
chronic esophagitides, eosinophilic
chronic esophagitis, eosinophilic
eoe1
eosinophilic chronic esophagitides
eosinophilic chronic esophagitis
eosinophilic esophagitides
eosinophilic esophagitis (disorder)
eosinophilic esophagitis [disease/finding]
eosinophilic oesophagitis
esophagitides, eosinophilic
esophagitides, eosinophilic chronic
esophagitis, eosinophilic
esophagitis, eosinophilic chronic
esophagitis, eosinophilic, 1
Orphanet
OMIM
DOID
ICD10
UMLS
C0341106
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:15)
C0017168  |  oesophageal reflux  |  5
C0017168  |  gastroesophageal reflux  |  5
C0017168  |  esophageal reflux  |  5
C0017168  |  esophageal reflux disease  |  4
C0007570  |  celiac disease  |  4
C0017168  |  gastroesophageal reflux disease  |  4
C0014850  |  esophageal atresia  |  3
C0034065  |  pulmonary embolism  |  1
C0004096  |  asthma  |  1
C0009782  |  connective tissue disorder  |  1
C0007789  |  cerebral palsy  |  1
C0016470  |  food allergy  |  1
C0004763  |  barrett's esophagus  |  1
C0016470  |  food hypersensitivity  |  1
C0009782  |  connective tissue disorders  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:16)
286046  |  XKR6  |  GWASCAT
1630  |  DCC  |  GWASCAT
85480  |  TSLP  |  CTD_human;GWASCAT
6778  |  STAT6  |  GWASCAT
10344  |  CCL26  |  CTD_human
440854  |  CAPN14  |  CTD_human;GWASCAT
57619  |  SHROOM3  |  GWASCAT
9127  |  P2RX6  |  GWASCAT
726  |  CAPN5  |  GWASCAT
11077  |  HSF2BP  |  GWASCAT
60494  |  CCDC81  |  GWASCAT
23076  |  RRP1B  |  GWASCAT
7077  |  TIMP2  |  GWASCAT
57576  |  KIF17  |  GWASCAT
126917  |  IFFO2  |  GWASCAT
84079  |  ANKRD27  |  GWASCAT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:47)
2683  |  B4GALT1  |  1.298  |  DISEASES
100885775  |  BANCR  |  2.129  |  DISEASES
440854  |  CAPN14  |  5.619  |  DISEASES
1232  |  CCR3  |  3.197  |  DISEASES
1237  |  CCR8  |  1.183  |  DISEASES
912  |  CD1D  |  2.071  |  DISEASES
60437  |  CDH26  |  3.077  |  DISEASES
222256  |  CDHR3  |  2.404  |  DISEASES
27159  |  CHIA  |  1.211  |  DISEASES
10321  |  CRISP3  |  1.88  |  DISEASES
64109  |  CRLF2  |  2.437  |  DISEASES
414325  |  DEFB103A  |  1.85  |  DISEASES
55894  |  DEFB103B  |  1.85  |  DISEASES
100289462  |  DEFB4B  |  1.236  |  DISEASES
28955  |  DEXI  |  2.478  |  DISEASES
8909  |  ENDOU  |  2.534  |  DISEASES
2254  |  FGF9  |  2.072  |  DISEASES
2312  |  FLG  |  3.558  |  DISEASES
50943  |  FOXP3  |  1.465  |  DISEASES
55876  |  GSDMB  |  1.45  |  DISEASES
3055  |  HCK  |  1.088  |  DISEASES
3384  |  ICAM2  |  1.093  |  DISEASES
3601  |  IL15RA  |  2.097  |  DISEASES
90865  |  IL33  |  2.731  |  DISEASES
3652  |  IPP  |  1.101  |  DISEASES
102723508  |  KANTR  |  2.247  |  DISEASES
3851  |  KRT4  |  1.234  |  DISEASES
79782  |  LRRC31  |  3.471  |  DISEASES
7786  |  MAP3K12  |  1.501  |  DISEASES
4354  |  MPP1  |  2.291  |  DISEASES
26496  |  OR10A3  |  1.757  |  DISEASES
54625  |  PARP14  |  3.029  |  DISEASES
5334  |  PLCL1  |  2.135  |  DISEASES
10631  |  POSTN  |  3.578  |  DISEASES
11251  |  PTGDR2  |  2.472  |  DISEASES
5831  |  PYCR1  |  1.208  |  DISEASES
27181  |  SIGLEC8  |  3.019  |  DISEASES
6949  |  TCOF1  |  1.624  |  DISEASES
9414  |  TJP2  |  1.17  |  DISEASES
387521  |  TMEM189  |  1.109  |  DISEASES
642987  |  TMEM232  |  1.353  |  DISEASES
7293  |  TNFRSF4  |  1.417  |  DISEASES
85480  |  TSLP  |  5.014  |  DISEASES
134430  |  WDR36  |  3.002  |  DISEASES
65986  |  ZBTB10  |  2.09  |  DISEASES
84619  |  ZGPAT  |  1.305  |  DISEASES
10771  |  ZMYND11  |  2.232  |  DISEASES
Locus(Waiting for update.)
Disease ID 175
Disease eosinophilic esophagitis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:8)
HP:0002020  |  Gastroesophageal reflux
HP:0002031  |  Abnormality of the esophagus
HP:0002015  |  Dysphagia
HP:0100749  |  Chest pain
HP:0005203  |  Spontaneous esophageal perforation
HP:0005240  |  Esophageal obstruction
HP:0002043  |  Esophageal stricture
HP:0000969  |  Edema
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:19)
HP:0002015  |  Swallowing difficulty  |  7
HP:0002020  |  Heartburn  |  7
HP:0002032  |  Esophageal atresia  |  4
HP:0002608  |  Celiac disease  |  4
HP:0012393  |  Allergy  |  3
HP:0001880  |  Eosinophilia  |  3
HP:0012531  |  Pain  |  2
HP:0010450  |  Narrowing of the esophagus  |  1
HP:0001907  |  Thromboembolic disease  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0002099  |  Asthma  |  1
HP:0100021  |  Cerebral palsy  |  1
HP:0100580  |  Barrett's esophagus  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0002013  |  Emesis  |  1
HP:0002204  |  Pulmonary embolism  |  1
HP:0011968  |  Feeding difficulties  |  1
HP:0012735  |  Coughing  |  1
HP:0100749  |  Thoracic pain  |  1
Disease ID 175
Disease eosinophilic esophagitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C1546602  |  diverticulum
C0426576  |  gastrointestinal symptoms
C0014866  |  esophageal stenosis
C0014860  |  esophageal perforation
C0011168  |  dysphagia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0011168  |  dysphagia  |  7
C0014866  |  esophageal stenosis  |  1
C0014860  |  esophageal perforation  |  1
C0426576  |  gastrointestinal symptoms  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:20)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11206830250171048613PPAP2Bumls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014PPAP2B156494451CT
rs1180862092501710460494CCDC81umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014CCDC811186393453TG
rs14986479525407941440854CAPN14umls:C0341106GWASCATHere we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus.0.242014CAPN14231179541GA
rs167769254079416778STAT6umls:C0341106GWASCATHere we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus.0.1210857672014STAT61257109992CT
rs170045982501710423076RRP1Bumls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014HSF2BP;RRP1B2143658675TG
rs170045982501710411077HSF2BPumls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014HSF2BP;RRP1B2143658675TG
rs19867342020853457619SHROOM3umls:C0341106GWASCATCommon variants at 5q22 associate with pediatric eosinophilic esophagitis.0.122010SHROOM3476499631CT
rs2075277250171049127P2RX6umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014P2RX62221028193TC
rs22962252501710457576KIF17umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014KIF17120704549TC
rs2853067425017104126917IFFO2umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014IFFO2118907640AG
rs289826125017104286046XKR6umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014XKR6811101029GA,T
rs3744790250171047077TIMP2umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014TIMP2;KIAA1731NL1778897053CT
rs38069322020853485480TSLPumls:C0341106GWASCATThese data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region.0.2416286512010TSLP5111069977AG
rs380693220208534134430WDR36umls:C0341106BeFreeWe report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)).0.0005428842010TSLP5111069977AG
rs38069332501710485480TSLPumls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.2416286512014TSLP5111071044CT
rs38157002540794184079ANKRD27umls:C0341106GWASCATHere we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus.0.122014ANKRD271932602346TC
rs618945472540794156946C11orf30umls:C0341106GWASCATHere we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus.0.1202714422014C11orf301176537586CT
rs7730171325017104726CAPN5umls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014CAPN51177121400GA
rs7756985925017104440854CAPN14umls:C0341106GWASCATWe propose a model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an EoE-specific, IL-13-inducible esophageal response involving CAPN14.0.242014CAPN14231188421TC
rs9956738250171041630DCCumls:C0341106GWASCATGenome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.0.122014DCC1852414603AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:14)
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
3176030096rs6799767GTrs6799767202085344.00E-07NA1.49[1.18-1.85] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
477418681rs13106227GArs13106227202085344.00E-06NA1.52[1.20-1.92] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
477420784rs1986734CTrs1986734202085341.00E-06NA1.54[1.22-1.89] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
581939318rs1032757GArs1032757202085342.00E-06NA1.96[1.40-2.74] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs1032757-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
5110405675rs3806932AGrs3806932202085343.00E-09NA1.85NA181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
658308955rs9500256GArs9500256202085345.00E-06NA2.04[1.52-2.70] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
899088581rs13278732CTrs13278732202085346.00E-06NA1.31[1.04-1.65] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs13278732-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
8121694650rs11989782CArs11989782202085347.00E-06NA1.53[1.21-1.93] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs11989782-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1085422854rs2224865GTrs2224865202085349.00E-06NA1.44[1.15-1.79] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs2224865-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1195422867rs1939875AGrs1939875202085343.00E-06NA1.54[1.22-1.93] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs1939875-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1257503775rs167769CTrs167769202085342.00E-06NA1.36[1.10-1.69] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs167769-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1684578241rs371915AGrs371915202085342.00E-08NA1.9[1.44-2.50] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
1768291133rs6501384CTrs6501384202085346.00E-06NA1.41[1.13-1.76] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs6501384-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1828902322rs7236477AGrs7236477202085347.00E-06NA2.22[1.39-3.55] 181 European descent adolescent cases; 1,974 European descent adolescent controlsEuropean(2155)ALL(2155)EUR(2155)ALL(2155)Eosinophilic esophagitis (pediatric)HPOID:0100633EsophagitisDOID:13922eosinophilic esophagitisD057765Eosinophilic EsophagitisEFOID:0004594childhood eosinophilic esophagitisEsophagitisrs7236477-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0005240Esophageal obstructionMP:0011509dilated glomerular capillarystretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole
HP:0002043Esophageal strictureMP:0013501increased fibroblast apoptosisincrease in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0000969EdemaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0100749Chest painMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0005203Spontaneous esophageal perforationMP:0011160dermal-epidermal separationthe appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis
HP:0002015DysphagiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002020Gastroesophageal refluxMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
Disease ID 175
Disease eosinophilic esophagitis
Case(Waiting for update.)