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PedAM

Pediatric Disease Annotations & Medicines



   gastroesophageal reflux disease
  

Disease ID 486
Disease gastroesophageal reflux disease
Definition
Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Synonym
acid reflux
acid reflux (finding)
acid reflux disease
acid reflux, gastric
cardioesophageal relaxation, gastroesophageal reflux
disease gastro-esophageal reflux
diseases esophageal reflux
esophageal reflux
esophageal reflux disease
gastresophageal reflux
gastresophageal reflux disease
gastric acid reflux
gastric acid reflux disease
gastric reflux
gastro esophageal reflux
gastro oesophageal reflux
gastro-esophageal reflux
gastro-esophageal reflux disease
gastro-oesophageal reflux
gastro-oesophageal reflux disease
gastroesophageal reflux
gastroesophageal reflux (finding)
gastroesophageal reflux [disease/finding]
gastroesophageal reflux dis
gastroesophageal reflux disease (disorder)
gastroesophageal reflux disease (gerd)
gastroesophageal reflux disease [ambiguous]
gastrooesophageal reflux
gastrooesophageal reflux disease
ge reflux
ger
gerd
gerd - gastro-esophageal reflux disease
gor - gastro-esophageal reflux
gor - gastro-oesophageal reflux
gord - gastro-esophageal reflux disease
gord - gastro-oesophageal reflux disease
oesophageal reflux
reflux
reflux acid
reflux disease esophageal
reflux esophageal
reflux gastroesophageal
reflux, gastric acid
reflux, gastro-esophageal
reflux, gastro-oesophageal
reflux, gastroesophageal
OMIM
DOID
UMLS
C0017168
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:245)
C0014868  |  esophagitis  |  56
C0017168  |  esophageal reflux  |  44
C0004096  |  asthma  |  39
C0019291  |  hiatal hernia  |  39
C0004763  |  barrett's esophagus  |  37
C0017168  |  oesophageal reflux  |  36
C0017168  |  esophageal reflux disease  |  33
C0017168  |  gastroesophageal reflux  |  31
C0028754  |  obesity  |  27
C0017168  |  gastroesophageal reflux disease  |  27
C0013395  |  dyspepsia  |  17
C0019291  |  hiatus hernia  |  17
C0037317  |  sleep disturbance  |  15
C0001418  |  adenocarcinoma  |  15
C0017168  |  acid reflux  |  13
C0520679  |  obstructive sleep apnea  |  12
C0279628  |  esophageal adenocarcinoma  |  11
C0024117  |  chronic obstructive pulmonary disease  |  11
C0037315  |  sleep apnea  |  11
C0032285  |  pneumonia  |  10
C0017152  |  gastritis  |  10
C0011847  |  diabetes  |  10
C0010674  |  cystic fibrosis  |  8
C0037317  |  sleep disturbances  |  8
C0034186  |  pyelonephritis  |  8
C0020538  |  hypertension  |  8
C0029882  |  otitis media  |  8
C0032290  |  aspiration pneumonia  |  8
C0029883  |  otitis media with effusion  |  8
C0013295  |  duodenal ulcer  |  7
C0020295  |  hydronephrosis  |  7
C0014868  |  oesophagitis  |  7
C0011570  |  depression  |  7
C0011849  |  diabetes mellitus  |  7
C0042345  |  varicose vein  |  6
C0341106  |  eosinophilic esophagitis  |  6
C0023067  |  laryngitis  |  6
C0014858  |  esophageal dysmotility  |  6
C1800706  |  idiopathic pulmonary fibrosis  |  6
C0035078  |  renal failure  |  6
C0004096  |  bronchial asthma  |  6
C0017168  |  gastro-oesophageal reflux disease  |  5
C0600260  |  obstructive pulmonary disease  |  5
C0041956  |  ureteral obstruction  |  5
C0024117  |  chronic obstructive pulmonary disease (copd)  |  5
C0017168  |  gastro-oesophageal reflux  |  5
C0011860  |  type 2 diabetes  |  5
C0024115  |  lung disease  |  5
C0948265  |  metabolic syndrome  |  5
C0035204  |  respiratory disease  |  5
C0042485  |  venous insufficiency  |  5
C0024115  |  pulmonary disease  |  5
C0042345  |  varicose veins  |  5
C0014848  |  achalasia  |  5
C0034069  |  pulmonary fibrosis  |  5
C0003467  |  anxiety  |  4
C0005697  |  neurogenic bladder  |  4
C0014869  |  reflux esophagitis  |  4
C0037315  |  sleep apnea syndrome  |  4
C0155836  |  chronic laryngitis  |  4
C0011860  |  type ii diabetes  |  4
C0019291  |  hiatal hernias  |  4
C2242816  |  chronic otitis media with effusion  |  4
C0022104  |  irritable bowel  |  4
C0520679  |  obstructive sleep apnea syndrome  |  4
C0004763  |  barrett esophagus  |  4
C0279628  |  oesophageal adenocarcinoma  |  4
C0022104  |  irritable bowel syndrome  |  4
C0206062  |  interstitial lung disease  |  3
C0035204  |  respiratory diseases  |  3
C0079840  |  milk allergy  |  3
C0022661  |  end-stage renal failure  |  3
C0017168  |  gastro-esophageal reflux  |  3
C0851578  |  sleep disorders  |  3
C0018021  |  goiter  |  3
C0017178  |  gastrointestinal disorders  |  3
C0017154  |  atrophic gastritis  |  3
C0024623  |  gastric cancer  |  3
C0014859  |  esophageal cancer  |  3
C0037199  |  sinusitis  |  3
C0030920  |  gastroduodenal ulcer  |  3
C0011860  |  type 2 diabetes mellitus  |  3
C0008325  |  cholecystitis  |  3
C0017178  |  gastrointestinal disorder  |  3
C0022661  |  end-stage renal disease  |  3
C0022658  |  renal disease  |  3
C0042341  |  varicocele  |  3
C0028756  |  morbid obesity  |  3
C0019291  |  esophageal hiatal hernia  |  3
C0011860  |  type ii diabetes mellitus  |  3
C0030920  |  peptic ulcer  |  2
C0018023  |  nodular goiter  |  2
C0030305  |  pancreatitis  |  2
C0520575  |  acute pyelonephritis  |  2
C0004763  |  barrett's oesophagus  |  2
C0520679  |  obstructive sleep apnoea  |  2
C0022821  |  kyphosis  |  2
C0008311  |  cholangitis  |  2
C0036421  |  systemic sclerosis  |  2
C0022658  |  kidney disease  |  2
C0019284  |  diaphragmatic hernia  |  2
C0005403  |  bile reflux  |  2
C0022661  |  chronic renal failure  |  2
C0442874  |  neuropathy  |  2
C0031350  |  pharyngitis  |  2
C0006272  |  bronchiolitis obliterans  |  2
C0001418  |  adenocarcinomas  |  2
C0014858  |  oesophageal dysmotility  |  2
C0006325  |  bruxism  |  2
C0022661  |  chronic kidney disease  |  2
C0009806  |  constipation  |  2
C0013288  |  dumping syndrome  |  2
C0023895  |  liver disease  |  2
C0007107  |  laryngeal cancer  |  2
C0023890  |  cirrhosis  |  2
C0017154  |  gastric atrophy  |  2
C0035455  |  rhinitis  |  2
C0009806  |  constipated  |  1
C0010068  |  coronary heart disease  |  1
C0011644  |  scleroderma  |  1
C0041976  |  urethritis  |  1
C0041234  |  chagas disease  |  1
C0003537  |  aphasia  |  1
C0600260  |  obstructive lung disease  |  1
C0155501  |  peripheral vertigo  |  1
C0016470  |  food allergy  |  1
C0206696  |  signet ring cell carcinoma  |  1
C0019158  |  hepatitis  |  1
C0034359  |  pyuria  |  1
C0037315  |  sleep apnoea  |  1
C0034069  |  lung fibrosis  |  1
C0008312  |  biliary cirrhosis  |  1
C0016470  |  food allergies  |  1
C0021831  |  bowel disease  |  1
C0024115  |  pulmonary diseases  |  1
C0041952  |  ureteral stone  |  1
C0595989  |  laryngeal carcinoma  |  1
C0037315  |  sleep-disordered breathing  |  1
C0039446  |  telangiectasias  |  1
C0338591  |  transient global amnesia  |  1
C0242429  |  sore throat  |  1
C0685938  |  gastrointestinal cancer  |  1
C0020581  |  hyphema  |  1
C0039494  |  temporomandibular disorder  |  1
C0011334  |  cavities  |  1
C0014869  |  reflux oesophagitis  |  1
C2267227  |  bulimia nervosa  |  1
C0003873  |  rheumatoid arthritis  |  1
C0039494  |  temporomandibular disorders  |  1
C0311273  |  ascending cholangitis  |  1
C2607914  |  allergic rhinitis  |  1
C0020540  |  malignant hypertension  |  1
C0011334  |  caries  |  1
C0015464  |  facial nerve palsy  |  1
C0022658  |  nephropathy  |  1
C0006267  |  bronchiectasis  |  1
C0221773  |  hyperamylasemia  |  1
C0014544  |  epilepsy  |  1
C0152018  |  esophageal carcinoma  |  1
C0376358  |  prostate cancer  |  1
C0019163  |  hepatitis b  |  1
C0014130  |  endocrine disease  |  1
C0235522  |  venous disease  |  1
C0030920  |  peptic ulcer disease  |  1
C0033581  |  prostatitis  |  1
C0001420  |  papillary adenocarcinoma  |  1
C0007789  |  cerebral palsy  |  1
C0025164  |  megaesophagus  |  1
C0020542  |  pulmonary hypertension  |  1
C0156273  |  bladder diverticula  |  1
C0152018  |  oesophageal carcinoma  |  1
C0685938  |  gastrointestinal cancers  |  1
C0014858  |  esophageal motility disorders  |  1
C0699885  |  bladder carcinoma  |  1
C0346627  |  intestinal cancers  |  1
C0036341  |  schizophrenia  |  1
C0026847  |  spinal muscular atrophy  |  1
C0003486  |  aortic aneurysm  |  1
C0013473  |  eating disorders  |  1
C0023798  |  lipoma  |  1
C0026769  |  multiple sclerosis  |  1
C0033687  |  proteinuria  |  1
C0017168  |  gastro-esophageal reflux disease  |  1
C0022661  |  end-stage kidney disease  |  1
C0009782  |  connective tissue diseases  |  1
C0031099  |  periodontitis  |  1
C0040961  |  tricuspid regurgitation  |  1
C0019112  |  haemorrhoids  |  1
C0520679  |  sleep apnea/hypopnea syndrome  |  1
C0153452  |  gallbladder ca  |  1
C0152020  |  gastroparesis  |  1
C0750952  |  biliary cancer  |  1
C0018799  |  heart disease  |  1
C0014130  |  endocrine disorders  |  1
C0003469  |  anxiety disorders  |  1
C1306557  |  chronic venous insufficiency  |  1
C0013473  |  eating disorder  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0005411  |  biliary atresia  |  1
C0235782  |  gallbladder carcinoma  |  1
C0030567  |  parkinson's disease  |  1
C0005683  |  bladder stone  |  1
C0020224  |  polyhydramnios  |  1
C0008370  |  cholestasis  |  1
C0010692  |  cystitis  |  1
C0025362  |  mental retardation  |  1
C0026846  |  muscular atrophy  |  1
C0011860  |  diabetes mellitus type 2  |  1
C0006277  |  bronchitis  |  1
C0750952  |  biliary tract cancer  |  1
C0019294  |  inguinal hernia  |  1
C0005697  |  neuropathic bladder  |  1
C0008350  |  cholelithiasis  |  1
C0032285  |  pneumonias  |  1
C0341747  |  detrusor sphincter dyssynergia  |  1
C0018799  |  cardiac disease  |  1
C0028326  |  noonan syndrome  |  1
C0546837  |  esophageal cancers  |  1
C0022104  |  functional bowel disease  |  1
C0041696  |  major depressive disorder  |  1
C0006271  |  bronchiolitis  |  1
C0013295  |  duodenal ulcer disease  |  1
C0041960  |  ureterocele  |  1
C0162316  |  iron deficiency anemia  |  1
C0010068  |  coronary artery disease  |  1
C0152101  |  hypoplastic left heart syndrome  |  1
C0002871  |  anemia  |  1
C0345335  |  multicystic dysplastic kidney  |  1
C0001339  |  acute pancreatitis  |  1
C0042345  |  varices  |  1
C0022716  |  menkes disease  |  1
C0021843  |  bowel obstruction  |  1
C0546837  |  oesophageal cancer  |  1
C0041974  |  urethral stricture  |  1
C0035242  |  respiratory tract diseases  |  1
C0007570  |  celiac disease  |  1
C0152227  |  epiphora  |  1
C0282488  |  interstitial cystitis  |  1
C0042580  |  vesicoureteral reflux  |  1
C0019291  |  esophageal hiatus hernia  |  1
C0040053  |  thrombus  |  1
C0242770  |  bronchiolitis obliterans organizing pneumonia  |  1
C0009782  |  connective tissue disease  |  1
C0003469  |  anxiety disorder  |  1
C0006370  |  bulimia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
PTGS2  |  5743  |  CTD_human
TAC1  |  6863  |  CTD_human
CXCL8  |  3576  |  CTD_human
ABAT  |  18  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1557  |  CYP2C19  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:190)
10344  |  CCL26  |  DISEASES
5526  |  PPP2R5B  |  DISEASES
27248  |  ERLEC1  |  DISEASES
6583  |  SLC22A4  |  DISEASES
28954  |  REM1  |  DISEASES
10081  |  PDCD7  |  DISEASES
9929  |  JOSD1  |  DISEASES
1113  |  CHGA  |  DISEASES
479  |  ATP12A  |  DISEASES
9028  |  RHBDL1  |  DISEASES
11129  |  CLASRP  |  DISEASES
8288  |  EPX  |  DISEASES
5539  |  PPY  |  DISEASES
8050  |  PDHX  |  DISEASES
3567  |  IL5  |  DISEASES
1044  |  CDX1  |  DISEASES
4057  |  LTF  |  DISEASES
654231  |  OCM  |  DISEASES
8189  |  SYMPK  |  DISEASES
3630  |  INS  |  DISEASES
123811  |  FOPNL  |  DISEASES
4922  |  NTS  |  DISEASES
51124  |  IER3IP1  |  DISEASES
4951  |  OCM2  |  DISEASES
26122  |  EPC2  |  DISEASES
3569  |  IL6  |  DISEASES
3557  |  IL1RN  |  DISEASES
51050  |  PI15  |  DISEASES
9360  |  PPIG  |  DISEASES
59341  |  TRPV4  |  DISEASES
10728  |  PTGES3  |  DISEASES
8989  |  TRPA1  |  DISEASES
6521  |  SLC4A1  |  DISEASES
2294  |  FOXF1  |  DISEASES
495  |  ATP4A  |  DISEASES
5024  |  P2RX3  |  DISEASES
3553  |  IL1B  |  DISEASES
23024  |  PDZRN3  |  DISEASES
3938  |  LCT  |  DISEASES
11112  |  HIBADH  |  DISEASES
9379  |  NRXN2  |  DISEASES
55749  |  CCAR1  |  DISEASES
7008  |  TEF  |  DISEASES
55647  |  RAB20  |  DISEASES
597  |  BCL2A1  |  DISEASES
18  |  ABAT  |  DISEASES
7157  |  TP53  |  DISEASES
10899  |  JTB  |  DISEASES
81555  |  YIPF5  |  DISEASES
113130  |  CDCA5  |  DISEASES
7462  |  LAT2  |  DISEASES
2206  |  MS4A2  |  DISEASES
7082  |  TJP1  |  DISEASES
25836  |  NIPBL  |  DISEASES
2911  |  GRM1  |  DISEASES
1562  |  CYP2C18  |  DISEASES
4838  |  NODAL  |  DISEASES
6750  |  SST  |  DISEASES
26060  |  APPL1  |  DISEASES
1636  |  ACE  |  DISEASES
27306  |  HPGDS  |  DISEASES
886  |  CCKAR  |  DISEASES
3577  |  CXCR1  |  DISEASES
213  |  ALB  |  DISEASES
2150  |  F2RL1  |  DISEASES
4724  |  NDUFS4  |  DISEASES
5885  |  RAD21  |  DISEASES
9311  |  ASIC3  |  DISEASES
4640  |  MYO1A  |  DISEASES
6447  |  SCG5  |  DISEASES
1632  |  ECI1  |  DISEASES
81603  |  TRIM8  |  DISEASES
6037  |  RNASE3  |  DISEASES
6869  |  TACR1  |  DISEASES
5940  |  RBMY1A1  |  DISEASES
10980  |  COPS6  |  DISEASES
5028  |  P2RY1  |  DISEASES
3596  |  IL13  |  DISEASES
5066  |  PAM  |  DISEASES
2915  |  GRM5  |  DISEASES
10465  |  PPIH  |  DISEASES
51068  |  NMD3  |  DISEASES
5029  |  P2RY2  |  DISEASES
1521  |  CTSW  |  DISEASES
3952  |  LEP  |  DISEASES
51228  |  GLTP  |  DISEASES
55690  |  PACS1  |  DISEASES
6748  |  SSR4  |  DISEASES
2828  |  GPR4  |  DISEASES
9370  |  ADIPOQ  |  DISEASES
6863  |  TAC1  |  DISEASES
64840  |  PORCN  |  DISEASES
8243  |  SMC1A  |  DISEASES
64327  |  LMBR1  |  DISEASES
55432  |  YOD1  |  DISEASES
57121  |  LPAR5  |  DISEASES
285513  |  GPRIN3  |  DISEASES
221937  |  FOXK1  |  DISEASES
3855  |  KRT7  |  DISEASES
1670  |  DEFA5  |  DISEASES
9146  |  HGS  |  DISEASES
2520  |  GAST  |  DISEASES
55256  |  ADI1  |  DISEASES
51738  |  GHRL  |  DISEASES
887  |  CCKBR  |  DISEASES
885  |  CCK  |  DISEASES
9075  |  CLDN2  |  DISEASES
1576  |  CYP3A4  |  DISEASES
3363  |  HTR7  |  DISEASES
85480  |  TSLP  |  DISEASES
8805  |  TRIM24  |  DISEASES
54681  |  P4HTM  |  DISEASES
1364  |  CLDN4  |  DISEASES
259307  |  IL4I1  |  DISEASES
60490  |  PPCDC  |  DISEASES
2918  |  GRM8  |  DISEASES
1499  |  CTNNB1  |  DISEASES
100506658  |  OCLN  |  DISEASES
9815  |  GIT2  |  DISEASES
3359  |  HTR3A  |  DISEASES
5733  |  PTGER3  |  DISEASES
51161  |  C3orf18  |  DISEASES
9895  |  TECPR2  |  DISEASES
5697  |  PYY  |  DISEASES
3360  |  HTR4  |  DISEASES
56477  |  CCL28  |  DISEASES
2882  |  GPX7  |  DISEASES
9126  |  SMC3  |  DISEASES
56259  |  CTNNBL1  |  DISEASES
57611  |  ISLR2  |  DISEASES
2058  |  EPRS  |  DISEASES
7432  |  VIP  |  DISEASES
5743  |  PTGS2  |  DISEASES
6279  |  S100A8  |  DISEASES
1268  |  CNR1  |  DISEASES
4354  |  MPP1  |  DISEASES
119392  |  SFR1  |  DISEASES
63910  |  SLC17A9  |  DISEASES
5832  |  ALDH18A1  |  DISEASES
1557  |  CYP2C19  |  DISEASES
6406  |  SEMG1  |  DISEASES
1025  |  CDK9  |  DISEASES
6865  |  TACR2  |  DISEASES
2914  |  GRM4  |  DISEASES
177  |  AGER  |  DISEASES
549  |  AUH  |  DISEASES
23013  |  SPEN  |  DISEASES
3055  |  HCK  |  DISEASES
3274  |  HRH2  |  DISEASES
10631  |  POSTN  |  DISEASES
4081  |  MAB21L1  |  DISEASES
1045  |  CDX2  |  DISEASES
9189  |  ZBED1  |  DISEASES
1010  |  CDH12  |  DISEASES
79400  |  NOX5  |  DISEASES
6710  |  SPTB  |  DISEASES
116534  |  MRGPRE  |  DISEASES
80196  |  RNF34  |  DISEASES
5627  |  PROS1  |  DISEASES
2719  |  GPC3  |  DISEASES
51520  |  LARS  |  DISEASES
2912  |  GRM2  |  DISEASES
1365  |  CLDN3  |  DISEASES
3652  |  IPP  |  DISEASES
594857  |  NPS  |  DISEASES
2950  |  GSTP1  |  DISEASES
7442  |  TRPV1  |  DISEASES
440854  |  CAPN14  |  DISEASES
1363  |  CPE  |  DISEASES
56888  |  KCMF1  |  DISEASES
23066  |  CAND2  |  DISEASES
2641  |  GCG  |  DISEASES
4295  |  MLN  |  DISEASES
83795  |  KCNK16  |  DISEASES
64065  |  PERP  |  DISEASES
7124  |  TNF  |  DISEASES
10499  |  NCOA2  |  DISEASES
4588  |  MUC6  |  DISEASES
389125  |  MUSTN1  |  DISEASES
4583  |  MUC2  |  DISEASES
131  |  ADH7  |  DISEASES
151306  |  GPBAR1  |  DISEASES
4586  |  MUC5AC  |  DISEASES
5125  |  PCSK5  |  DISEASES
9971  |  NR1H4  |  DISEASES
8972  |  MGAM  |  DISEASES
11245  |  GPR176  |  DISEASES
4212  |  MEIS2  |  DISEASES
51741  |  WWOX  |  DISEASES
102723508  |  KANTR  |  DISEASES
Locus(Waiting for update.)
Disease ID 486
Disease gastroesophageal reflux disease
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:3)
HP:0100633  |  Inflammation of the esophagus
HP:0002020  |  Heartburn
HP:0100580  |  Barrett's esophagus
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:197)
HP:0002020  |  Heartburn  |  110
HP:0100633  |  Inflammation of the esophagus  |  62
HP:0002036  |  Hiatus hernia  |  56
HP:0012735  |  Coughing  |  51
HP:0100790  |  Hernia  |  41
HP:0002099  |  Asthma  |  40
HP:0100580  |  Barrett's esophagus  |  39
HP:0012531  |  Pain  |  29
HP:0001513  |  Obesity  |  27
HP:0002835  |  Aspiration  |  27
HP:0000010  |  Frequent urinary tract infections  |  21
HP:0002360  |  Sleep disturbance  |  16
HP:0100749  |  Thoracic pain  |  15
HP:0002015  |  Swallowing difficulty  |  15
HP:0002104  |  Absence of spontaneous respiration  |  12
HP:0010535  |  Sleep apnea  |  12
HP:0002870  |  Obstructive sleep apnea  |  12
HP:0006510  |  Chronic obstructive pulmonary disease  |  11
HP:0002090  |  Pneumonia  |  10
HP:0005263  |  Gastritis  |  9
HP:0011951  |  Aspiration pneumonia  |  8
HP:0003774  |  End-stage renal failure  |  8
HP:0002013  |  Emesis  |  8
HP:0000388  |  Otitis media  |  8
HP:0000822  |  Hypertension  |  8
HP:0002588  |  Duodenal ulcer  |  7
HP:0000819  |  Diabetes mellitus  |  7
HP:0000716  |  Depression  |  7
HP:0000126  |  Hydronephrosis  |  7
HP:0012330  |  Pyelonephritis  |  7
HP:0100699  |  Scarring  |  6
HP:0011968  |  Feeding difficulties  |  6
HP:0002027  |  Abdominal pain  |  6
HP:0002018  |  Nausea  |  6
HP:0005202  |  Helicobacter pylori infection  |  6
HP:0002043  |  Esophageal stricture  |  6
HP:0000083  |  Renal insufficiency  |  6
HP:0012393  |  Allergy  |  5
HP:0030731  |  Carcinoma  |  5
HP:0002619  |  Varicose veins  |  5
HP:0005293  |  Venous insufficiency  |  5
HP:0006000  |  Ureteral obstruction  |  5
HP:0002206  |  Pulmonary fibrosis  |  5
HP:0001609  |  Hoarseness  |  5
HP:0002571  |  Achalasia  |  5
HP:0000389  |  Chronic otitis media  |  4
HP:0010957  |  Congenital posterior urethral valve  |  4
HP:0000739  |  Anxiety  |  4
HP:0000011  |  Neurogenic bladder  |  4
HP:0001880  |  Eosinophilia  |  4
HP:0004947  |  Arteriovenous fistula  |  4
HP:0100785  |  Insomnia  |  3
HP:0000776  |  Diaphragmatic hernia  |  3
HP:0002578  |  Gastroparesis  |  3
HP:0001082  |  Cholecystitis  |  3
HP:0012118  |  Cancer of the larynx  |  3
HP:0010783  |  Erythema  |  3
HP:0001824  |  Weight loss  |  3
HP:0000853  |  Goitre  |  3
HP:0006530  |  Interstitial lung disease  |  3
HP:0000969  |  Dropsy  |  3
HP:0010481  |  Urethral valve  |  3
HP:0012126  |  Gastric cancer  |  3
HP:0000246  |  Sinus inflammation  |  3
HP:0012871  |  Varicocele  |  3
HP:0100327  |  Cow milk allergy  |  3
HP:0002575  |  Tracheoesophageal fistula  |  3
HP:0005978  |  Noninsulin dependent diabetes mellitus  |  3
HP:0002664  |  Neoplasia  |  2
HP:0012384  |  Nasal inflammation  |  2
HP:0001382  |  Hyperextensible joints  |  2
HP:0002808  |  Gibbus deformity  |  2
HP:0003418  |  Back pain  |  2
HP:0011947  |  Respiratory infection  |  2
HP:0003763  |  Bruxism  |  2
HP:0002019  |  Dyschezia  |  2
HP:0001394  |  Hepatic cirrhosis  |  2
HP:0005994  |  Nodular goiter  |  2
HP:0030157  |  Flank pain  |  2
HP:0000072  |  Megaureter  |  2
HP:0001618  |  Dysphonia  |  2
HP:0011946  |  Constrictive bronchiolitis  |  2
HP:0001696  |  Situs inversus totalis  |  2
HP:0005110  |  Atrial fibrillation  |  2
HP:0002579  |  Gastrointestinal dysmotility  |  2
HP:0030151  |  Cholangitis  |  2
HP:0003270  |  Distended abdomen  |  2
HP:0011109  |  Chronic sinusitis  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0001733  |  Pancreatic inflammation  |  2
HP:0002100  |  Recurrent aspiration pneumonia  |  2
HP:0012743  |  Central obesity  |  2
HP:0001262  |  Somnolence  |  2
HP:0100582  |  Nasal polyps  |  2
HP:0004398  |  Peptic ulcer  |  2
HP:0011675  |  Arrhythmias  |  2
HP:0000805  |  Enuresis  |  2
HP:0100812  |  bad breath  |  2
HP:0010677  |  Enuresis nocturna  |  2
HP:0012085  |  High urine neutrophil count  |  1
HP:0100022  |  Movement disorder  |  1
HP:0100681  |  Esophageal duplication  |  1
HP:0012378  |  Fatigue  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0001397  |  Hepatic steatosis  |  1
HP:0001249  |  Mental retardation  |  1
HP:0012387  |  Bronchitis  |  1
HP:0010534  |  Transient global amnesia  |  1
HP:0000112  |  Nephropathy  |  1
HP:0002040  |  Esophageal varix  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0009926  |  Epiphora  |  1
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  1
HP:0010867  |  Dyssynergia  |  1
HP:0012227  |  Urethral stricture  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0000089  |  Small kidneys  |  1
HP:0011950  |  Bronchiolitis  |  1
HP:0000023  |  Inguinal hernia  |  1
HP:0002094  |  Dyspnea  |  1
HP:0002427  |  Loss of expressive speech  |  1
HP:0000110  |  Renal dysplasia  |  1
HP:0005912  |  Biliary duct atresia  |  1
HP:0002615  |  Low blood pressure  |  1
HP:0000070  |  Ureterocele  |  1
HP:0000073  |  Ureteral duplication  |  1
HP:0001396  |  Cholestasis  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0000039  |  Epispadias  |  1
HP:0000202  |  Oral clefting  |  1
HP:0011886  |  Hyphema  |  1
HP:0002110  |  Bronchiectasis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0012534  |  Dysesthesia  |  1
HP:0100548  |  Exstrophy  |  1
HP:0100324  |  Progressive systemic scleroderma  |  1
HP:0000670  |  Dental caries  |  1
HP:0006536  |  Obstructive lung disease  |  1
HP:0002150  |  Hypercalcinuria  |  1
HP:0000704  |  Pyorrhea  |  1
HP:0000737  |  Irritability  |  1
HP:0005952  |  Decreased lung function  |  1
HP:0000015  |  Bladder diverticula  |  1
HP:0004322  |  Stature below 3rd percentile  |  1
HP:0000093  |  Proteinuria  |  1
HP:0001561  |  Hydramnios  |  1
HP:0006528  |  Chronic lung disease  |  1
HP:0000003  |  Multicystic kidney dysplasia  |  1
HP:0000076  |  Vesicoureteric reflux  |  1
HP:0012787  |  Recurrent pyelonephritis  |  1
HP:0100806  |  Sepsis  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0000086  |  Ectopic kidney  |  1
HP:0200136  |  Oral-pharyngeal dysphagia  |  1
HP:0010450  |  Narrowing of the esophagus  |  1
HP:0001607  |  Subglottic stenosis  |  1
HP:0001627  |  Congenital heart defects  |  1
HP:0002613  |  Biliary cirrhosis  |  1
HP:0008661  |  Urethral stenosis  |  1
HP:0002240  |  Enlarged liver  |  1
HP:0100753  |  Schizophrenia  |  1
HP:0003193  |  Allergic rhinitis  |  1
HP:0001518  |  Small for gestational age  |  1
HP:0100021  |  Cerebral palsy  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0011945  |  Cryptogenic organizing pneumonia  |  1
HP:0002017  |  Nausea and vomiting  |  1
HP:0000212  |  Gingival overgrowth  |  1
HP:0001601  |  Laryngomalacia  |  1
HP:0003419  |  Low back pain  |  1
HP:0002381  |  Aphasia  |  1
HP:0008705  |  Ureteral triplication  |  1
HP:0002566  |  Intestinal malrotation  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0000220  |  Velopharyngeal insufficiency  |  1
HP:0001508  |  Weight faltering  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0002862  |  Bladder carcinoma  |  1
HP:0005180  |  Tricuspid insufficiency  |  1
HP:0003287  |  Abnormality of mitochondrial metabolism  |  1
HP:0002370  |  Poor coordination  |  1
HP:0002608  |  Celiac disease  |  1
HP:0001510  |  Growth deficiency  |  1
HP:0011459  |  Esophageal carcinoma  |  1
HP:0000024  |  Inflammation of the prostate  |  1
HP:0002205  |  Frequent respiratory infections  |  1
HP:0002321  |  Vertigo  |  1
HP:0100739  |  Binge and purge  |  1
HP:0002155  |  Increased triglycerides  |  1
HP:0100565  |  Hydromyelia  |  1
HP:0001903  |  Anemia  |  1
HP:0012032  |  Lipoma  |  1
HP:0007269  |  Spinal muscle wasting  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0012596  |  Moderate proteinuria  |  1
Disease ID 486
Disease gastroesophageal reflux disease
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:52)
C0019291  |  hiatal hernia  |  24
C0014868  |  esophagitis  |  20
C0010200  |  cough  |  15
C0010201  |  chronic cough  |  14
C0004096  |  asthma  |  13
C0018834  |  heartburn  |  10
C0004763  |  barrett's esophagus  |  9
C0520679  |  obstructive sleep apnea  |  8
C0037090  |  respiratory symptoms  |  7
C0422833  |  ent symptoms  |  7
C0017168  |  acid reflux  |  6
C0030193  |  pain  |  6
C0032290  |  aspiration pneumonia  |  5
C0008031  |  chest pain  |  5
C0013395  |  dyspepsia  |  5
C0279628  |  esophageal adenocarcinoma  |  4
C0042963  |  vomiting  |  4
C0022104  |  irritable bowel syndrome  |  3
C0232605  |  regurgitation  |  3
C0004763  |  barrett esophagus  |  3
C0376710  |  sliding hiatal hernia  |  3
C0040436  |  dental erosion  |  3
C0232197  |  fibrillation  |  2
C0279628  |  oesophageal adenocarcinoma  |  2
C0850666  |  helicobacter pylori infection  |  2
C0009814  |  stenosis  |  2
C0426576  |  gastrointestinal symptoms  |  2
C0267055  |  erosive esophagitis  |  2
C0005403  |  bile reflux  |  2
C0019291  |  hiatus hernia  |  2
C0155836  |  chronic laryngitis  |  1
C0009450  |  infection  |  1
C0035204  |  respiratory disease  |  1
C0014866  |  oesophageal stricture  |  1
C0027497  |  nausea  |  1
C0014859  |  esophageal cancer  |  1
C0014858  |  esophageal motility disorders  |  1
C0011168  |  dysphagia  |  1
C0872410  |  posturing  |  1
C0017154  |  gastric atrophy  |  1
C0014868  |  oesophagitis  |  1
C0039494  |  temporomandibular disorders  |  1
C0029166  |  oral manifestations  |  1
C0024115  |  pulmonary disease  |  1
C0006277  |  bronchitis  |  1
C0004052  |  aspiration of gastric contents  |  1
C0004096  |  bronchial asthma  |  1
C0546837  |  esophageal cancers  |  1
C0426768  |  o sign  |  1
C0014866  |  esophageal stricture  |  1
C0037317  |  sleep disturbance  |  1
C1800706  |  idiopathic pulmonary fibrosis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:38)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042522237350597157TP53umls:C0017168BeFreeAssociation of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma.0.0005428842013TP53177676154GT,C
rs1042522237350594193MDM2umls:C0017168BeFreeAssociation of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma.0.0002714422013TP53177676154GT,C
rs11540654237350594193MDM2umls:C0017168BeFreeAssociation of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma.0.0002714422013TP53177676040CT,G,A
rs11540654237350597157TP53umls:C0017168BeFreeAssociation of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma.0.0005428842013TP53177676040CT,G,A
rs119414922175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012KDR455112043CT
rs11941492217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012KDR455112043CT
rs11941492217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012KDR455112043CT
rs12268840183867884255MGMTumls:C0017168BeFreeHomozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10).0.0002714422008MGMT10129527035CT
rs13181158789102068ERCC2umls:C0017168BeFreeSignificantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).0.0002714422005ERCC2;KLC31945351661TA,G
rs13337626217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012TSC2162075833TC
rs133376262175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012TSC2162075833TC
rs13337626217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012TSC2162075833TC
rs17619601217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328326373CT
rs176196012175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328326373CT
rs17619601217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328326373CT
rs17625898217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328358693TA,G
rs176258982175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328358693TA,G
rs17625898217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328358693TA,G
rs177085742175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012PDGFRB5150141675GA
rs17708574217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012PDGFRB5150141675GA
rs17708574217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012PDGFRB5150141675GA
rs2114039217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012NA454226459TC
rs21140392175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012NA454226459TC
rs2114039217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012NA454226459TC
rs2295778217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012HIF1AN10100536079CG
rs22957782175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012HIF1AN10100536079CG
rs2295778217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012HIF1AN10100536079CG
rs2296188217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328319347TC
rs22961882175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328319347TC
rs2296188217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT1;LOC1053701341328319347TC
rs25487158789102068ERCC2umls:C0017168BeFreeSignificantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).0.0002714422005XRCC11943551574TC
rs25487158789107515XRCC1umls:C0017168BeFreeThe protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage.0.0002714422005XRCC11943551574TC
rs386493716158789107515XRCC1umls:C0017168BeFreeThe protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage.0.0002714422005NANANANANA
rs386493716158789102068ERCC2umls:C0017168BeFreeSignificantly reduced frequencies were seen for the XPD Lys751Gln homozygous variant genotype in patients with EADC (OR = 0.24; 95% CI = 0.07-0.88), and for the XRCC1 Arg399Gln homozygous variant genotype in patients with BE (OR = 0.38; 95% CI = 0.12-0.64) and GERD (OR = 0.29; 95% CI = 0.12-0.66).0.0002714422005NANANANANA
rs5443191747932784GNB3umls:C0017168BeFreeGastroesophageal reflux disease is associated with the C825T polymorphism in the G-protein beta3 subunit gene (GNB3).0.0026384742009GNB3;CDCA3126845711CT
rs73245472175119555662HIF1ANumls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328355470AG
rs7324547217511952321FLT1umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328355470AG
rs7324547217511957249TSC2umls:C0017168BeFreeIn subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs13337626 of TSC2) and GERD, 2 SNPs (rs2295778 of HIF1AN, rs2296188 of VEGFR1) and smoking, and 7 SNPs (rs2114039 of PDGRFA, rs2296188 of VEGFR1, rs11941492 of VEGFR1, rs17708574 of PDGFRB, rs7324547 of VEGFR1, rs17619601 of VEGFR1, and rs17625898 of VEGFR1) and BMI were significantly associated with esophageal adenocarcinoma development (all false-discovery rates ≤0.10).0.0002714422012FLT11328355470AG
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:10)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0017168cimetidineD00292751481-61-9gastroesophageal refluxMESH:D005764therapeutic15955208
C0017168cisaprideD02011781098-60-4gastroesophageal refluxMESH:D005764marker/mechanism10560558
C0017168cisaprideD02011781098-60-4gastroesophageal refluxMESH:D005764therapeutic10206861
C0017168lansoprazoleD064747-gastroesophageal refluxMESH:D005764therapeutic10685739
C0017168nizatidineD01656776963-41-2gastroesophageal refluxMESH:D005764therapeutic15683433
C0017168omeprazoleD00985373590-58-6gastroesophageal refluxMESH:D005764therapeutic10924942
C0017168pantoprazoleC064276102625-70-7gastroesophageal refluxMESH:D005764therapeutic15372423
C0017168succinylcholineD013390306-40-1gastroesophageal refluxMESH:D005764marker/mechanism4250986
C0017168sulindacD01346738194-50-2gastroesophageal refluxMESH:D005764therapeutic11910360
C0017168temazepamD013693846-50-4gastroesophageal refluxMESH:D005764marker/mechanism18344728
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)