Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   portal hypertension
  

Disease ID 771
Disease portal hypertension
Definition
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Synonym
hypertension portal
hypertension, portal
hypertension, portal [disease/finding]
hypertensions, portal
pht - portal hypertension
portal hypertension (disorder)
portal hypertensions
DOID
ICD10
UMLS
C0020541
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:115)
C0023890  |  cirrhosis  |  135
C0042345  |  varices  |  55
C0023890  |  liver cirrhosis  |  53
C0023895  |  liver disease  |  39
C0014867  |  esophageal varices  |  25
C0020532  |  hypersplenism  |  15
C0040053  |  thrombosis  |  12
C1619734  |  pulmonary arterial hypertension  |  12
C0023895  |  liver diseases  |  11
C0014867  |  oesophageal varices  |  10
C0036323  |  schistosomiasis  |  9
C0155773  |  portal vein thrombosis  |  8
C0019204  |  hepatocellular carcinoma  |  7
C0020538  |  hypertension  |  7
C0005411  |  biliary atresia  |  6
C0023890  |  hepatic cirrhosis  |  5
C0023891  |  alcoholic cirrhosis  |  5
C0002871  |  anemia  |  4
C0030305  |  pancreatitis  |  4
C0040034  |  thrombocytopenia  |  4
C0008312  |  biliary cirrhosis  |  4
C0036202  |  sarcoidosis  |  3
C0001815  |  myelofibrosis  |  3
C0155747  |  splenic artery aneurysm  |  3
C0019196  |  hepatitis c  |  3
C0020542  |  pulmonary hypertension  |  3
C0023895  |  hepatic disease  |  3
C0018920  |  cavernoma  |  2
C0030312  |  pancytopenia  |  2
C0008340  |  choledochal cyst  |  2
C0023418  |  leukemia  |  2
C0085413  |  autosomal dominant polycystic kidney  |  2
C0029454  |  osteopetrosis  |  2
C0085413  |  autosomal dominant polycystic kidney disease  |  2
C0024623  |  gastric cancer  |  2
C0023890  |  cirrhosis of liver  |  2
C0021390  |  inflammatory bowel disease  |  1
C0017658  |  glomerulonephritis  |  1
C0009319  |  colitis  |  1
C0042373  |  vascular disorders  |  1
C0677607  |  hashimoto's thyroiditis  |  1
C0042345  |  varicose vein  |  1
C0023487  |  promyelocytic leukemia  |  1
C0023290  |  visceral leishmaniasis  |  1
C0026272  |  mixed connective tissue disease  |  1
C0007570  |  coeliac disease  |  1
C0017205  |  gaucher's disease  |  1
C0042373  |  vascular disease  |  1
C0241910  |  autoimmune hepatitis  |  1
C0162316  |  iron deficiency anemia  |  1
C0007222  |  cardiovascular disorders  |  1
C0009782  |  connective tissue disease  |  1
C0019151  |  hepatic encephalopathy  |  1
C0206754  |  neuroendocrine tumors  |  1
C0494165  |  liver metastases  |  1
C0040147  |  thyroiditis  |  1
C0019158  |  inflammatory liver disease  |  1
C0030781  |  peliosis hepatis  |  1
C0018920  |  cavernous hemangioma  |  1
C0019154  |  hepatic vein thrombosis  |  1
C0003615  |  appendicitis  |  1
C0009402  |  colorectal cancer  |  1
C0030286  |  pancreatic disease  |  1
C0008325  |  cholecystitis  |  1
C0024299  |  lymphoma  |  1
C0002726  |  amyloidosis  |  1
C0162429  |  poor nutrition  |  1
C0221013  |  systemic mastocytosis  |  1
C0019212  |  hepatorenal syndrome  |  1
C0265965  |  dyskeratosis congenita  |  1
C0019158  |  hepatitis  |  1
C0023891  |  alcoholic liver cirrhosis  |  1
C0034150  |  peliosis  |  1
C0039445  |  hereditary hemorrhagic telangiectasia  |  1
C0024314  |  lymphoproliferative disorders  |  1
C0027022  |  myeloproliferative neoplasms  |  1
C0036631  |  seminomas  |  1
C0019163  |  hepatitis b  |  1
C0018801  |  heart failure  |  1
C0002878  |  hemolytic anemia  |  1
C0085669  |  acute leukemia  |  1
C0042373  |  vascular disorder  |  1
C0030286  |  pancreatic diseases  |  1
C1112746  |  hepatic lymphoma  |  1
C0001430  |  adenoma  |  1
C0010674  |  cystic fibrosis  |  1
C0021831  |  bowel disease  |  1
C0019187  |  alcoholic hepatitis  |  1
C0023281  |  leishmaniasis  |  1
C1333977  |  hepatitis b virus-related hepatocellular carcinoma  |  1
C0027708  |  wilms' tumor  |  1
C0162529  |  ischemic colitis  |  1
C0699791  |  gastric carcinoma  |  1
C0001339  |  acute pancreatitis  |  1
C0007570  |  celiac disease  |  1
C0042345  |  varicose veins  |  1
C0023470  |  myelocytic leukemia  |  1
C0018916  |  hemangioma  |  1
C0007113  |  rectal cancer  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0008311  |  cholangitis  |  1
C0013502  |  hydatid cyst  |  1
C0027947  |  neutropenia  |  1
C0031154  |  peritonitis  |  1
C0001815  |  idiopathic myelofibrosis  |  1
C0600452  |  hepatopulmonary syndrome  |  1
C0024523  |  malabsorption  |  1
C0023895  |  hepatocellular disease  |  1
C0206754  |  neuroendocrine tumor  |  1
C0023487  |  acute promyelocytic leukemia  |  1
C0085404  |  poems syndrome  |  1
C0019322  |  umbilical hernia  |  1
C0149521  |  chronic pancreatitis  |  1
C0024899  |  mastocytosis  |  1
C0042345  |  varicosities  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
551  |  AVP  |  CTD_human
7422  |  VEGFA  |  CTD_human
4846  |  NOS3  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:121)
55331  |  ACER3  |  1.427  |  DISEASES
94  |  ACVRL1  |  2.793  |  DISEASES
11093  |  ADAMTS13  |  1.873  |  DISEASES
84890  |  ADO  |  1.034  |  DISEASES
174  |  AFP  |  3.208  |  DISEASES
284  |  ANGPT1  |  1.986  |  DISEASES
408  |  ARRB1  |  1.086  |  DISEASES
527  |  ATP6V0C  |  1.641  |  DISEASES
551  |  AVP  |  3.123  |  DISEASES
8706  |  B3GALNT1  |  1.185  |  DISEASES
29994  |  BAZ2B  |  1.225  |  DISEASES
388552  |  BLOC1S3  |  1.74  |  DISEASES
655  |  BMP7  |  1.113  |  DISEASES
659  |  BMPR2  |  2.744  |  DISEASES
26580  |  BSCL2  |  1.106  |  DISEASES
857  |  CAV1  |  2.232  |  DISEASES
9332  |  CD163  |  2.37  |  DISEASES
959  |  CD40LG  |  2.046  |  DISEASES
1025  |  CDK9  |  1.549  |  DISEASES
10164  |  CHST4  |  1.43  |  DISEASES
1268  |  CNR1  |  2.254  |  DISEASES
1363  |  CPE  |  2.207  |  DISEASES
64506  |  CPEB1  |  1.134  |  DISEASES
1490  |  CTGF  |  2.258  |  DISEASES
1491  |  CTH  |  2.779  |  DISEASES
4283  |  CXCL9  |  1.447  |  DISEASES
23564  |  DDAH2  |  2.219  |  DISEASES
8813  |  DPM1  |  1.447  |  DISEASES
1906  |  EDN1  |  5.281  |  DISEASES
1908  |  EDN3  |  1.646  |  DISEASES
1910  |  EDNRB  |  2.892  |  DISEASES
9583  |  ENTPD4  |  2.509  |  DISEASES
957  |  ENTPD5  |  1.34  |  DISEASES
1969  |  EPHA2  |  1.103  |  DISEASES
2050  |  EPHB4  |  1.221  |  DISEASES
3266  |  ERAS  |  1.661  |  DISEASES
51466  |  EVL  |  4.978  |  DISEASES
2152  |  F3  |  2.802  |  DISEASES
2155  |  F7  |  1.714  |  DISEASES
2520  |  GAST  |  2.049  |  DISEASES
2641  |  GCG  |  3.79  |  DISEASES
728441  |  GGT2  |  2.568  |  DISEASES
2701  |  GJA4  |  1.425  |  DISEASES
151306  |  GPBAR1  |  2.333  |  DISEASES
3030  |  HADHA  |  1.072  |  DISEASES
3039  |  HBA1  |  1.982  |  DISEASES
3055  |  HCK  |  1.852  |  DISEASES
84667  |  HES7  |  1.422  |  DISEASES
3077  |  HFE  |  1.328  |  DISEASES
64344  |  HIF3A  |  1.689  |  DISEASES
3096  |  HIVEP1  |  1.853  |  DISEASES
100316868  |  HOTTIP  |  1.158  |  DISEASES
3274  |  HRH2  |  1.27  |  DISEASES
3320  |  HSP90AA1  |  1.265  |  DISEASES
3363  |  HTR7  |  2.395  |  DISEASES
3586  |  IL10  |  1.838  |  DISEASES
3704  |  ITPA  |  1.136  |  DISEASES
3717  |  JAK2  |  3.209  |  DISEASES
23210  |  JMJD6  |  1.968  |  DISEASES
55683  |  KANSL3  |  1.165  |  DISEASES
688  |  KLF5  |  1.232  |  DISEASES
9622  |  KLK4  |  1.138  |  DISEASES
3875  |  KRT18  |  1.091  |  DISEASES
100506195  |  LARGE-AS1  |  1.604  |  DISEASES
51520  |  LARS  |  1.147  |  DISEASES
84458  |  LCOR  |  1.49  |  DISEASES
286826  |  LIN9  |  2.07  |  DISEASES
3988  |  LIPA  |  1.666  |  DISEASES
57819  |  LSM2  |  1.989  |  DISEASES
147719  |  LYPD4  |  1.514  |  DISEASES
11253  |  MAN1B1  |  1.689  |  DISEASES
4128  |  MAOA  |  1.348  |  DISEASES
54903  |  MKS1  |  1.256  |  DISEASES
4318  |  MMP9  |  1.692  |  DISEASES
4352  |  MPL  |  1.057  |  DISEASES
4478  |  MSN  |  3.162  |  DISEASES
4524  |  MTHFR  |  1.141  |  DISEASES
91807  |  MYLK3  |  1.34  |  DISEASES
4842  |  NOS1  |  3.003  |  DISEASES
4843  |  NOS2  |  2.03  |  DISEASES
51070  |  NOSIP  |  2.39  |  DISEASES
115677  |  NOSTRIN  |  1.87  |  DISEASES
9971  |  NR1H4  |  2.595  |  DISEASES
64881  |  PCDH20  |  1.841  |  DISEASES
8654  |  PDE5A  |  1.337  |  DISEASES
5228  |  PGF  |  2.668  |  DISEASES
5314  |  PKHD1  |  3.175  |  DISEASES
5321  |  PLA2G4A  |  1.124  |  DISEASES
5333  |  PLCD1  |  1.184  |  DISEASES
10957  |  PNRC1  |  1.224  |  DISEASES
3276  |  PRMT1  |  1.371  |  DISEASES
5742  |  PTGS1  |  1.767  |  DISEASES
5743  |  PTGS2  |  1.874  |  DISEASES
7803  |  PTP4A1  |  1.134  |  DISEASES
5817  |  PVR  |  2.156  |  DISEASES
5950  |  RBP4  |  1.105  |  DISEASES
117584  |  RFFL  |  1.167  |  DISEASES
387  |  RHOA  |  2.81  |  DISEASES
6014  |  RIT2  |  1.348  |  DISEASES
9294  |  S1PR2  |  1.61  |  DISEASES
6288  |  SAA1  |  2.407  |  DISEASES
6297  |  SALL2  |  1.237  |  DISEASES
5265  |  SERPINA1  |  2.494  |  DISEASES
462  |  SERPINC1  |  2.717  |  DISEASES
85413  |  SLC22A16  |  1.448  |  DISEASES
8671  |  SLC4A4  |  1.598  |  DISEASES
9498  |  SLC4A8  |  1.925  |  DISEASES
55974  |  SLC50A1  |  1.67  |  DISEASES
6672  |  SP100  |  1.146  |  DISEASES
6696  |  SPP1  |  1.198  |  DISEASES
6752  |  SSTR2  |  1.344  |  DISEASES
7056  |  THBD  |  1.196  |  DISEASES
7124  |  TNF  |  2.893  |  DISEASES
6434  |  TRA2B  |  1.218  |  DISEASES
27229  |  TUBGCP4  |  1.076  |  DISEASES
286753  |  TUSC5  |  1.149  |  DISEASES
2837  |  UTS2R  |  2.791  |  DISEASES
7422  |  VEGFA  |  3.34  |  DISEASES
79819  |  WDR78  |  2.569  |  DISEASES
56897  |  WRNIP1  |  1.1  |  DISEASES
7490  |  WT1  |  1.277  |  DISEASES
Locus(Waiting for update.)
Disease ID 771
Disease portal hypertension
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:98)
HP:0001394  |  Hepatic cirrhosis  |  148
HP:0001541  |  Ascites  |  33
HP:0001744  |  Splenomegaly  |  32
HP:0002584  |  Intestinal hemorrhage  |  30
HP:0002239  |  Gastrointestinal hemorrhage  |  28
HP:0001971  |  Hypersplenism  |  18
HP:0030242  |  Blood clot in portal vein  |  10
HP:0030731  |  Carcinoma  |  9
HP:0001399  |  Liver failure  |  9
HP:0000822  |  Hypertension  |  8
HP:0005912  |  Biliary duct atresia  |  7
HP:0001402  |  Hepatocellular carcinoma  |  7
HP:0001395  |  Hepatic fibrosis  |  6
HP:0001873  |  Low platelet count  |  5
HP:0001410  |  Decreased liver function  |  5
HP:0006580  |  Portal fibrosis  |  5
HP:0002613  |  Biliary cirrhosis  |  4
HP:0000952  |  Yellow skin  |  4
HP:0001903  |  Anemia  |  4
HP:0002617  |  Aneurysmal dilatation  |  4
HP:0001298  |  Encephalopathy  |  4
HP:0001733  |  Pancreatic inflammation  |  4
HP:0004947  |  Arteriovenous fistula  |  4
HP:0002092  |  Pulmonary artery hypertension  |  4
HP:0012126  |  Gastric cancer  |  3
HP:0001433  |  Enlarged liver and spleen  |  3
HP:0000790  |  Hematuria  |  3
HP:0002248  |  Vomitting blood  |  2
HP:0004936  |  Blood clot in vein  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0002202  |  Pleural effusion  |  2
HP:0000969  |  Dropsy  |  2
HP:0002480  |  Hepatic encephalopathy  |  2
HP:0100790  |  Hernia  |  2
HP:0011002  |  Osteopetrosis  |  2
HP:0002240  |  Enlarged liver  |  2
HP:0001909  |  Leukemia  |  2
HP:0001397  |  Hepatic steatosis  |  2
HP:0011974  |  Myelofibrosis  |  2
HP:0001876  |  Low blood cell count  |  2
HP:0001747  |  Accessory spleen  |  2
HP:0001405  |  Periportal fibrosis  |  2
HP:0100890  |  Cyst of the ductus choledochus  |  2
HP:0200123  |  Chronic liver inflammation  |  2
HP:0012418  |  Low blood oxygen level  |  2
HP:0002612  |  Congenital hepatic fibrosis  |  2
HP:0100646  |  Thyroiditis  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0100495  |  Mastocytosis  |  1
HP:0100806  |  Sepsis  |  1
HP:0002910  |  Elevated transaminases  |  1
HP:0012587  |  Gross hematuria  |  1
HP:0002619  |  Varicose veins  |  1
HP:0001048  |  Cavernous angioma  |  1
HP:0002664  |  Neoplasia  |  1
HP:0011954  |  Nodular transformation of liver  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0012281  |  Chylous ascites  |  1
HP:0000855  |  Insulin resistance  |  1
HP:0002608  |  Celiac disease  |  1
HP:0002894  |  Neoplasia of the pancreas  |  1
HP:0004836  |  Acute promyelocytic leukemia  |  1
HP:0001537  |  Umbilical hernias  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0006280  |  Chronic pancreas inflammation  |  1
HP:0012280  |  Hepatic amyloidosis  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0002665  |  Lymphoma  |  1
HP:0012550  |  Colonic varices  |  1
HP:0002573  |  Bloody diarrhea  |  1
HP:0030243  |  Blood clot in liver vein  |  1
HP:0012223  |  Ruptured spleen  |  1
HP:0002571  |  Achalasia  |  1
HP:0030151  |  Cholangitis  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0012649  |  Increased inflammatory response  |  1
HP:0001875  |  Neutropenia  |  1
HP:0002583  |  Colitis  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0100699  |  Scarring  |  1
HP:0001028  |  Strawberry mark  |  1
HP:0100844  |  Pancreatic fistula  |  1
HP:0002024  |  Intestinal malabsorption  |  1
HP:0002586  |  Peritonitis  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0006577  |  Macronodular cirrhosis  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
HP:0001082  |  Cholecystitis  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0100626  |  Chronic hepatic failure  |  1
HP:0001978  |  Extramedullary hematopoiesis  |  1
HP:0012849  |  Small intestinal hemorrhage  |  1
HP:0001892  |  Bleeding diathesis  |  1
HP:0100033  |  Tic disorder  |  1
Disease ID 771
Disease portal hypertension
Manually Symptom
UMLS  | Name(Total Manually Symptoms:117)
C2707258  |  infections
C2676454  |  h syndrome
C2609100  |  anorectal varices
C2364133  |  infection
C2363955  |  venous reflux
C2243088  |  hemorrhagic gastritis
C2243088  |  haemorrhagic gastritis
C2073625  |  pleural effusion
C1963935  |  intestinal hyperemia
C1963854  |  congestive gastropathy
C1963220  |  pulmonary hypertension
C1963106  |  esophagitis
C1963101  |  encephalopathy
C1963091  |  diarrhea
C1868851  |  portopulmonary hypertension
C1657109  |  general problem
C1627365  |  littoral cell angioma
C1623038  |  cirrhosis
C1619734  |  pulmonary arterial hypertension
C1550639  |  fistula
C1442984  |  choledochal cyst
C1402315  |  vascular lesions
C1142158  |  hepatic vein occlusion
C1112565  |  pneumatosis intestinalis
C0947622  |  gallstones
C0941011  |  hemorrhagic gastropathy
C0877686  |  colopathy
C0856169  |  endothelial dysfunction
C0854441  |  gastric mucosal lesion
C0854416  |  pulmonary vascular disorders
C0796095  |  c syndrome
C0748168  |  pulmonary pathology
C0748159  |  pulmonary involvement
C0740577  |  acute abdominal pain
C0600452  |  hepatopulmonary syndrome
C0580178  |  duodenal varices
C0580174  |  portal hypertensive gastropathy
C0426768  |  o sign
C0376293  |  stigmata
C0348893  |  chronic superficial gastritis
C0341608  |  stomal varices
C0341244  |  duodenal erosion
C0333494  |  phlebosclerosis
C0267789  |  mesenteric arteriovenous fistula
C0267373  |  intestinal hemorrhages
C0267373  |  intestinal hemorrhage
C0267373  |  intestinal haemorrhages
C0267373  |  intestinal haemorrhage
C0267373  |  intestinal bleeding
C0267211  |  gastric antral vascular ectasia
C0267209  |  bleeding gastric varices
C0266807  |  acute gastrointestinal haemorrhage
C0266807  |  acute gastrointestinal bleeding
C0240318  |  mediastinal mass
C0238293  |  osteomyelosclerosis
C0235982  |  stricture of bile duct
C0235325  |  gastric hemorrhage
C0235325  |  gastric haemorrhage
C0235325  |  gastric bleeding
C0162529  |  ischemic colitis
C0162529  |  colonic ischemia
C0155789  |  esophageal varices hemorrhage
C0155789  |  bleeding oesophageal varices
C0155789  |  bleeding esophageal varices
C0155773  |  portal vein thrombosis
C0155747  |  splenic artery aneurysm
C0154307  |  congestive splenomegaly
C0152171  |  primary pulmonary hypertension
C0085584  |  encephalopathies
C0085113  |  von recklinghausen disease
C0042345  |  varicosities
C0042345  |  varicose veins
C0042345  |  varices
C0042341  |  varicocele
C0041296  |  tuberculosis
C0040034  |  thrombocytopenia
C0040028  |  hemorrhagic thrombocythemia
C0038358  |  gastric ulcer
C0038354  |  gastropathy
C0038354  |  gastric disease
C0032227  |  pleural effusions
C0030920  |  peptic ulcers
C0030920  |  peptic ulceration
C0030920  |  peptic ulcer
C0030920  |  gastroduodenal ulcer
C0024633  |  mallory-weiss syndrome
C0024620  |  primary liver cancer
C0024115  |  pulmonary disorders
C0023895  |  hepatocellular disease
C0023890  |  liver cirrhosis
C0020649  |  hypotension
C0020625  |  hyponatremia
C0020538  |  systemic arterial hypertension
C0020532  |  hypersplenism
C0020514  |  hyperprolactinemia
C0020488  |  sodium retention
C0019214  |  hepatosplenomegaly
C0019151  |  portal-systemic encephalopathy
C0019151  |  hepatic encephalopathy
C0019080  |  hemorrhage
C0019079  |  hemoptysis
C0018926  |  hematemesis
C0018926  |  haematemesis
C0018920  |  cavernous hemangioma
C0018920  |  cavernoma
C0017661  |  iga nephropathy
C0017205  |  gaucher's disease
C0017181  |  gastrointestinal hemorrhage
C0017145  |  gastric varix
C0017145  |  gastric varices
C0014867  |  oesophageal varices
C0014867  |  esophageal varices
C0008732  |  chylous ascites
C0008350  |  cholelithiasis
C0004936  |  mental disorders
C0002940  |  aneurysms
C0002940  |  aneurysm
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:52)
C0023890  |  cirrhosis  |  129
C0042345  |  varices  |  58
C0023890  |  liver cirrhosis  |  35
C0267373  |  intestinal bleeding  |  28
C0014867  |  esophageal varices  |  22
C0020532  |  hypersplenism  |  18
C0019080  |  hemorrhage  |  15
C0426768  |  o sign  |  13
C1619734  |  pulmonary arterial hypertension  |  11
C0155773  |  portal vein thrombosis  |  10
C0017145  |  gastric varices  |  10
C0040034  |  thrombocytopenia  |  5
C0016169  |  fistula  |  5
C0085584  |  encephalopathy  |  4
C0014867  |  oesophageal varices  |  4
C0155747  |  splenic artery aneurysm  |  3
C0020542  |  pulmonary hypertension  |  3
C0009450  |  infection  |  3
C0856169  |  endothelial dysfunction  |  3
C0017181  |  gastrointestinal hemorrhage  |  2
C0267373  |  intestinal hemorrhage  |  2
C0002940  |  aneurysms  |  2
C0019151  |  hepatic encephalopathy  |  2
C0267209  |  bleeding gastric varices  |  2
C0002940  |  aneurysm  |  2
C0018920  |  cavernoma  |  2
C0019214  |  hepatosplenomegaly  |  2
C0008340  |  choledochal cyst  |  2
C0600452  |  hepatopulmonary syndrome  |  2
C0018926  |  hematemesis  |  2
C0235325  |  gastric bleeding  |  1
C0020625  |  hyponatremia  |  1
C0032227  |  pleural effusion  |  1
C0008732  |  chylous ascites  |  1
C1868851  |  portopulmonary hypertension  |  1
C0038354  |  gastropathy  |  1
C0341608  |  stomal varices  |  1
C0748159  |  pulmonary involvement  |  1
C0155789  |  bleeding esophageal varices  |  1
C0032227  |  pleural effusions  |  1
C0155789  |  bleeding oesophageal varices  |  1
C0877686  |  colopathy  |  1
C0042345  |  varicosities  |  1
C0854441  |  gastric mucosal lesion  |  1
C0042345  |  varicose veins  |  1
C0162529  |  ischemic colitis  |  1
C0266807  |  acute gastrointestinal bleeding  |  1
C0023895  |  hepatocellular disease  |  1
C0017205  |  gaucher's disease  |  1
C0018920  |  cavernous hemangioma  |  1
C0580174  |  portal hypertensive gastropathy  |  1
C0018926  |  haematemesis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1799945114211053077HFEumls:C0020541BeFreeWe describe here a kindred in which the propositus, being heterozygote for beta-thalassemia and the H63D mutation of the HFE gene, developed severe iron overload and in turn, chronic liver failure with portal hypertension.0.0005428842001HFE626090951CG
rs1800562194400631636ACEumls:C0020541BeFreeA 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angiotensin-converting enzyme (ACE) levels, 3+ hepatocyte iron, cirrhosis, hepatic granulomas, and portal hypertension.0.0031813582009HFE626092913GA
rs1800562194400633077HFEumls:C0020541BeFreeA 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angiotensin-converting enzyme (ACE) levels, 3+ hepatocyte iron, cirrhosis, hepatic granulomas, and portal hypertension.0.0005428842009HFE626092913GA
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.)
Disease ID 771
Disease portal hypertension
Case(Waiting for update.)