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PedAM

Pediatric Disease Annotations & Medicines



   liver cirrhosis
  

Disease ID 719
Disease liver cirrhosis
Definition
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.
Synonym
cirrhoses, hepatic
cirrhoses, liver
cirrhosis
cirrhosis liver
cirrhosis of liver
cirrhosis of liver (disorder)
cirrhosis of liver nos (disorder)
cirrhosis of liver, nos
cirrhosis, hepatic
cirrhosis, liver
cl - cirrhosis of liver
hepatic cirrhoses
hepatic cirrhosis
hepatic cirrhosis, nos
liver cirrhoses
liver cirrhosis [disease/finding]
liver--cirrhosis
DOID
UMLS
C0023890
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:193)
C0019158  |  hepatitis  |  76
C0020541  |  portal hypertension  |  75
C0019204  |  hepatocellular carcinoma  |  74
C0020538  |  hypertension  |  72
C0019163  |  hepatitis b  |  43
C0042345  |  varices  |  38
C0019151  |  hepatic encephalopathy  |  31
C0014867  |  esophageal varices  |  26
C0019196  |  hepatitis c  |  26
C0023895  |  liver disease  |  23
C0031154  |  peritonitis  |  19
C0040053  |  thrombosis  |  15
C0162429  |  malnutrition  |  12
C0155773  |  portal vein thrombosis  |  12
C0040034  |  thrombocytopenia  |  11
C0020532  |  hypersplenism  |  11
C0004623  |  bacterial infection  |  9
C0019322  |  umbilical hernia  |  9
C0023903  |  liver cancer  |  8
C0011847  |  diabetes  |  8
C0004623  |  bacterial infections  |  6
C0019212  |  hepatorenal syndrome  |  6
C0023895  |  liver diseases  |  6
C0008350  |  gallstones  |  5
C0042721  |  viral hepatitis  |  5
C0014867  |  oesophageal varices  |  5
C0032285  |  pneumonia  |  5
C0042769  |  virus infection  |  5
C0023903  |  liver tumor  |  4
C0022806  |  protein malnutrition  |  4
C0011849  |  diabetes mellitus  |  4
C0241910  |  autoimmune hepatitis  |  4
C0010068  |  coronary artery disease  |  4
C0019294  |  inguinal hernia  |  3
C0030920  |  peptic ulcer  |  3
C0002871  |  anemia  |  3
C0271650  |  glucose intolerance  |  3
C0042769  |  viral infection  |  3
C0019163  |  hepatitis b infection  |  3
C0003467  |  anxiety  |  3
C0041296  |  tuberculosis  |  3
C0024623  |  gastric cancer  |  3
C0008311  |  cholangitis  |  3
C0030920  |  peptic ulcer disease  |  3
C0023890  |  cirrhosis  |  3
C0011570  |  depression  |  3
C0023903  |  hepatic tumor  |  3
C0600452  |  hepatopulmonary syndrome  |  3
C0282193  |  iron overload  |  3
C0162429  |  malnourished  |  3
C0035078  |  renal failure  |  3
C0028754  |  obesity  |  3
C0008372  |  intrahepatic cholestasis  |  2
C0042345  |  varicose veins  |  2
C0042345  |  varicose vein  |  2
C0005411  |  biliary atresia  |  2
C0026718  |  mucormycosis  |  2
C0001623  |  adrenal insufficiency  |  2
C0345905  |  intrahepatic cholangiocarcinoma  |  2
C0242966  |  systemic inflammatory response syndrome  |  2
C0040188  |  tic disorders  |  2
C0023903  |  hepatic cancer  |  2
C0008370  |  cholestasis  |  2
C1565489  |  renal insufficiency  |  2
C0701818  |  choledocholithiasis  |  2
C0029456  |  osteoporosis  |  2
C0035078  |  kidney failure  |  2
C0152020  |  gastroparesis  |  2
C0022661  |  end-stage renal disease  |  2
C0022658  |  renal disease  |  2
C0019204  |  hepatocarcinoma  |  2
C0018916  |  hemangioma  |  2
C0034150  |  purpura  |  2
C0012739  |  disseminated intravascular coagulation  |  2
C0014013  |  thoracic empyema  |  2
C0242379  |  lung cancer  |  1
C0017919  |  glycogen storage disease  |  1
C0027947  |  neutropenia  |  1
C0041408  |  turner's syndrome  |  1
C0162510  |  caroli's disease  |  1
C0021831  |  enteropathy  |  1
C0024115  |  lung disease  |  1
C0856761  |  budd-chiari syndrome  |  1
C0155773  |  portal thrombosis  |  1
C0008313  |  sclerosing cholangitis  |  1
C0014118  |  endocarditis  |  1
C0020676  |  hypothyroidism  |  1
C0023240  |  legionella infection  |  1
C0004030  |  aspergillosis  |  1
C1260402  |  splenic sequestration  |  1
C0019202  |  wilson's disease  |  1
C0014121  |  infective endocarditis  |  1
C0267211  |  watermelon stomach  |  1
C0037928  |  myelopathy  |  1
C0023895  |  hepatic disorders  |  1
C0002871  |  anaemia  |  1
C0020459  |  hyperinsulinemia  |  1
C0162316  |  iron deficiency anemia  |  1
C0006666  |  calciphylaxis  |  1
C0740277  |  bile duct cancer  |  1
C0032580  |  adenomatous polyposis  |  1
C0020456  |  hyperglycemia  |  1
C0010674  |  cystic fibrosis  |  1
C0022660  |  acute renal failure  |  1
C0036472  |  scrub typhus  |  1
C0018799  |  heart disease  |  1
C0020619  |  hypogonadism  |  1
C0267917  |  acute cholangitis  |  1
C0221757  |  alpha-1-antitrypsin def  |  1
C0020501  |  primary hyperoxaluria  |  1
C0019158  |  inflammatory liver disease  |  1
C0349532  |  gastric lymphoma  |  1
C0001973  |  alcoholism  |  1
C0206698  |  cholangiocarcinoma  |  1
C0019151  |  portosystemic encephalopathy  |  1
C0023895  |  liver disorder  |  1
C0030360  |  papillon-lefevre syndrome  |  1
C0042373  |  vascular disorder  |  1
C0349530  |  early gastric cancer  |  1
C1140680  |  ovarian ca  |  1
C0030312  |  pancytopenia  |  1
C0041471  |  typhus  |  1
C0026846  |  muscle atrophy  |  1
C0026846  |  muscular atrophy  |  1
C0409974  |  lupus erythematosus  |  1
C0023895  |  liver disorders  |  1
C0008350  |  gall stone  |  1
C0699791  |  gastric carcinoma  |  1
C0024115  |  pulmonary disorders  |  1
C0024299  |  lymphoma  |  1
C0008340  |  choledochal cyst  |  1
C0036319  |  schistosoma mansoni  |  1
C0268238  |  chanarin-dorfman syndrome  |  1
C0019204  |  hepatic carcinoma  |  1
C0267211  |  gastric antral vascular ectasia  |  1
C0036202  |  sarcoidosis  |  1
C0026946  |  fungal infection  |  1
C0002878  |  hemolytic anemia  |  1
C0042373  |  vascular diseases  |  1
C0028756  |  morbid obesity  |  1
C0021400  |  influenza  |  1
C0238124  |  necrotizing fasciitis  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0017922  |  gsd iii  |  1
C0001430  |  adenoma  |  1
C0349532  |  primary gastric lymphoma  |  1
C0006840  |  candidiasis  |  1
C0015503  |  factor vii deficiency  |  1
C0034152  |  henoch-schonlein purpura  |  1
C0005940  |  bone disease  |  1
C0155747  |  splenic artery aneurysm  |  1
C0015645  |  fasciitis  |  1
C0019112  |  haemorrhoids  |  1
C0041325  |  tuberculous peritonitis  |  1
C0024205  |  lymphadenitis  |  1
C0031048  |  constrictive pericarditis  |  1
C0008350  |  gallstone  |  1
C0006111  |  brain disorder  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0863194  |  resectable hepatocellular carcinoma  |  1
C0016977  |  biliary disease  |  1
C0006142  |  breast cancer  |  1
C0947622  |  cholecystolithiasis  |  1
C0033677  |  protein-energy malnutrition  |  1
C0079731  |  b cell lymphoma  |  1
C1262481  |  eosinophilic gastroenteritis  |  1
C0442874  |  neuropathy  |  1
C0011226  |  hepatitis delta  |  1
C1140680  |  ovarian cancer  |  1
C0019163  |  viral hepatitis b  |  1
C0268425  |  alstrom syndrome  |  1
C0026846  |  muscle wasting  |  1
C0004153  |  atherosclerosis  |  1
C0043117  |  immune thrombocytopenic purpura  |  1
C0043121  |  wernicke encephalopathy  |  1
C0013292  |  duodenal obstruction  |  1
C0042373  |  vascular disease  |  1
C0014544  |  epilepsy  |  1
C0002726  |  amyloidosis  |  1
C0025289  |  meningitis  |  1
C0007113  |  rectal cancer  |  1
C0023530  |  leukopenia  |  1
C0035229  |  respiratory insufficiency  |  1
C0221757  |  alpha-1-antitrypsin deficiency  |  1
C0005411  |  congenital biliary atresia  |  1
C0020538  |  high blood pressure  |  1
C0085437  |  bacterial meningitis  |  1
C0023891  |  alcoholic cirrhosis  |  1
C0239295  |  esophageal candidiasis  |  1
C0011226  |  hepatitis d  |  1
C0027765  |  neurological disorder  |  1
C0017160  |  gastroenteritis  |  1
C0009402  |  colorectal cancer  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:64)
IL6  |  3569  |  CTD_human
CNR1  |  1268  |  CTD_human
TGFB1  |  7040  |  CTD_human
F2  |  2147  |  CTD_human
PLAU  |  5328  |  CTD_human
GC  |  2638  |  CTD_human
SMAD3  |  4088  |  CTD_human
FGFR2  |  2263  |  CTD_human
DHCR7  |  1717  |  CTD_human
COL1A1  |  1277  |  CTD_human
CCL2  |  6347  |  CTD_human
AGT  |  183  |  CTD_human
TMEM67  |  91147  |  CTD_human
SPP1  |  6696  |  CTD_human
COL3A1  |  1281  |  CTD_human
ALB  |  213  |  CTD_human
VEGFA  |  7422  |  CTD_human
NFE2L2  |  4780  |  CTD_human
TNFRSF1B  |  7133  |  CTD_human
CYP27A1  |  1593  |  CTD_human
NPC1  |  4864  |  CTD_human
ACTA2  |  59  |  CTD_human
F5  |  2153  |  CTD_human
ATP7B  |  540  |  CTD_human
MMP2  |  4313  |  CTD_human
FLT1  |  2321  |  CTD_human
HGF  |  3082  |  CTD_human
ABCB4  |  5244  |  CTD_human
SERPINA1  |  5265  |  CTD_human
CTNNB1  |  1499  |  CTD_human
STAT1  |  6772  |  CTD_human
CTGF  |  1490  |  CTD_human
NPPA  |  4878  |  CTD_human
SPARC  |  6678  |  CTD_human
HSD11B2  |  3291  |  CTD_human
COMMD1  |  150684  |  CTD_human
THBS1  |  7057  |  CTD_human
ARNT  |  405  |  CTD_human
KRT8  |  3856  |  CTD_human
SLC30A10  |  55532  |  CTD_human
F3  |  2152  |  CTD_human
TRPM7  |  54822  |  CTD_human
CD14  |  929  |  CTD_human
JUND  |  3727  |  CTD_human
MIR376C  |  442913  |  CTD_human
REN  |  5972  |  CTD_human
FGF2  |  2247  |  CTD_human
SERPINH1  |  871  |  CTD_human
MIR503  |  574506  |  CTD_human
CHRM3  |  1131  |  CTD_human
IFNA1  |  3439  |  CTD_human
FGF7  |  2252  |  CTD_human
CNR2  |  1269  |  CTD_human
MIR215  |  406997  |  CTD_human
MIR764  |  100313838  |  CTD_human
MIR29C  |  407026  |  CTD_human
ANKS6  |  203286  |  CTD_human
CYP2R1  |  120227  |  CTD_human
MIR302C  |  442895  |  CTD_human
F2R  |  2149  |  CTD_human
MIR30C2  |  407032  |  CTD_human
MIR30B  |  407030  |  CTD_human
ADRA1A  |  148  |  CTD_human
KRT18  |  3875  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:24)
718  |  C3  |  infer
2950  |  GSTP1  |  infer
3077  |  HFE  |  infer
3119  |  HLA-DQB1  |  infer
3123  |  HLA-DRB1  |  infer
3162  |  HMOX1  |  infer
3587  |  IL10RA  |  infer
4049  |  LTA  |  infer
4353  |  MPO  |  infer
6648  |  SOD2  |  infer
7040  |  TGFB1  |  infer
7124  |  TNF  |  infer
7132  |  TNFRSF1A  |  infer
150  |  ADRA2A  |  infer
217  |  ALDH2  |  infer
23744  |  ATP5EP1  |  infer
84735  |  CNDP1  |  infer
1490  |  CTGF  |  infer
1571  |  CYP2E1  |  infer
2784  |  GNB3  |  infer
2944  |  GSTM1  |  infer
2952  |  GSTT1  |  infer
57057  |  TBX20  |  infer
54577  |  UGT1A7  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:884)
100505854  |  APTR  |  DISEASES
282706  |  DAOA-AS1  |  DISEASES
1080  |  CFTR  |  DISEASES
6376  |  CX3CL1  |  DISEASES
1634  |  DCN  |  DISEASES
10911  |  UTS2  |  DISEASES
84957  |  RELT  |  DISEASES
23152  |  CIC  |  DISEASES
7132  |  TNFRSF1A  |  DISEASES
9817  |  KEAP1  |  DISEASES
6343  |  SCT  |  DISEASES
359  |  AQP2  |  DISEASES
7066  |  THPO  |  DISEASES
1738  |  DLD  |  DISEASES
350  |  APOH  |  DISEASES
2099  |  ESR1  |  DISEASES
124  |  ADH1A  |  DISEASES
8086  |  AAAS  |  DISEASES
23411  |  SIRT1  |  DISEASES
3053  |  SERPIND1  |  DISEASES
4282  |  MIF  |  DISEASES
6576  |  SLC25A1  |  DISEASES
402055  |  SRRD  |  DISEASES
7494  |  XBP1  |  DISEASES
140564  |  APOBEC3D  |  DISEASES
3162  |  HMOX1  |  DISEASES
80339  |  PNPLA3  |  DISEASES
3002  |  GZMB  |  DISEASES
5836  |  PYGL  |  DISEASES
1113  |  CHGA  |  DISEASES
6554  |  SLC10A1  |  DISEASES
4792  |  NFKBIA  |  DISEASES
5834  |  PYGB  |  DISEASES
28231  |  SLCO4A1  |  DISEASES
128866  |  CHMP4B  |  DISEASES
3929  |  LBP  |  DISEASES
5716  |  PSMD10  |  DISEASES
2158  |  F9  |  DISEASES
27344  |  PCSK1N  |  DISEASES
7076  |  TIMP1  |  DISEASES
479  |  ATP12A  |  DISEASES
4313  |  MMP2  |  DISEASES
3163  |  HMOX2  |  DISEASES
10423  |  CDIPT  |  DISEASES
51285  |  RASL12  |  DISEASES
2137  |  EXTL3  |  DISEASES
1666  |  DECR1  |  DISEASES
5327  |  PLAT  |  DISEASES
83988  |  NCALD  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
56729  |  RETN  |  DISEASES
2091  |  FBL  |  DISEASES
7040  |  TGFB1  |  DISEASES
10226  |  PLIN3  |  DISEASES
973  |  CD79A  |  DISEASES
1048  |  CEACAM5  |  DISEASES
6822  |  SULT2A1  |  DISEASES
26291  |  FGF21  |  DISEASES
57817  |  HAMP  |  DISEASES
5444  |  PON1  |  DISEASES
3082  |  HGF  |  DISEASES
10135  |  NAMPT  |  DISEASES
4967  |  OGDH  |  DISEASES
7036  |  TFR2  |  DISEASES
5054  |  SERPINE1  |  DISEASES
727  |  C5  |  DISEASES
6348  |  CCL3  |  DISEASES
4353  |  MPO  |  DISEASES
1440  |  CSF3  |  DISEASES
6347  |  CCL2  |  DISEASES
1277  |  COL1A1  |  DISEASES
7448  |  VTN  |  DISEASES
230  |  ALDOC  |  DISEASES
952  |  CD38  |  DISEASES
4790  |  NFKB1  |  DISEASES
3558  |  IL2  |  DISEASES
595  |  CCND1  |  DISEASES
345  |  APOC3  |  DISEASES
8050  |  PDHX  |  DISEASES
969  |  CD69  |  DISEASES
51561  |  IL23A  |  DISEASES
3458  |  IFNG  |  DISEASES
2597  |  GAPDH  |  DISEASES
7167  |  TPI1  |  DISEASES
2729  |  GCLC  |  DISEASES
4172  |  MCM3  |  DISEASES
55856  |  ACOT13  |  DISEASES
9896  |  FIG4  |  DISEASES
6908  |  TBP  |  DISEASES
9450  |  LY86  |  DISEASES
2690  |  GHR  |  DISEASES
3565  |  IL4  |  DISEASES
5947  |  RBP1  |  DISEASES
338  |  APOB  |  DISEASES
4358  |  MPV17  |  DISEASES
10297  |  APC2  |  DISEASES
3485  |  IGFBP2  |  DISEASES
5657  |  PRTN3  |  DISEASES
2023  |  ENO1  |  DISEASES
6402  |  SELL  |  DISEASES
1509  |  CTSD  |  DISEASES
335  |  APOA1  |  DISEASES
7276  |  TTR  |  DISEASES
9429  |  ABCG2  |  DISEASES
7043  |  TGFB3  |  DISEASES
4360  |  MRC1  |  DISEASES
847  |  CAT  |  DISEASES
10804  |  GJB6  |  DISEASES
8743  |  TNFSF10  |  DISEASES
10268  |  RAMP3  |  DISEASES
92014  |  SLC25A51  |  DISEASES
28981  |  IFT81  |  DISEASES
540  |  ATP7B  |  DISEASES
6626  |  SNRPA  |  DISEASES
6615  |  SNAI1  |  DISEASES
5184  |  PEPD  |  DISEASES
1026  |  CDKN1A  |  DISEASES
2806  |  GOT2  |  DISEASES
79143  |  MBOAT7  |  DISEASES
718  |  C3  |  DISEASES
51119  |  SBDS  |  DISEASES
6945  |  MLX  |  DISEASES
7355  |  SLC35A2  |  DISEASES
10365  |  KLF2  |  DISEASES
2671  |  GFER  |  DISEASES
10875  |  FGL2  |  DISEASES
2678  |  GGT1  |  DISEASES
2952  |  GSTT1  |  DISEASES
84316  |  NAA38  |  DISEASES
22933  |  SIRT2  |  DISEASES
968  |  CD68  |  DISEASES
6351  |  CCL4  |  DISEASES
1215  |  CMA1  |  DISEASES
3630  |  INS  |  DISEASES
64151  |  NCAPG  |  DISEASES
79799  |  UGT2A3  |  DISEASES
5894  |  RAF1  |  DISEASES
2006  |  ELN  |  DISEASES
348  |  APOE  |  DISEASES
55821  |  ALLC  |  DISEASES
59272  |  ACE2  |  DISEASES
2056  |  EPO  |  DISEASES
9518  |  GDF15  |  DISEASES
1571  |  CYP2E1  |  DISEASES
445  |  ASS1  |  DISEASES
25926  |  NOL11  |  DISEASES
10343  |  PKDREJ  |  DISEASES
9104  |  RGN  |  DISEASES
2161  |  F12  |  DISEASES
9945  |  GFPT2  |  DISEASES
10266  |  RAMP2  |  DISEASES
2538  |  G6PC  |  DISEASES
50617  |  ATP6V0A4  |  DISEASES
8431  |  NR0B2  |  DISEASES
3958  |  LGALS3  |  DISEASES
3337  |  DNAJB1  |  DISEASES
6382  |  SDC1  |  DISEASES
6737  |  TRIM21  |  DISEASES
23225  |  NUP210  |  DISEASES
5791  |  PTPRE  |  DISEASES
182  |  JAG1  |  DISEASES
1401  |  CRP  |  DISEASES
6341  |  SCO1  |  DISEASES
1116  |  CHI3L1  |  DISEASES
3845  |  KRAS  |  DISEASES
10894  |  LYVE1  |  DISEASES
10752  |  CHL1  |  DISEASES
9398  |  CD101  |  DISEASES
23175  |  LPIN1  |  DISEASES
10468  |  FST  |  DISEASES
10599  |  SLCO1B1  |  DISEASES
187  |  APLNR  |  DISEASES
6947  |  TCN1  |  DISEASES
29969  |  MDFIC  |  DISEASES
967  |  CD63  |  DISEASES
3569  |  IL6  |  DISEASES
10241  |  CALCOCO2  |  DISEASES
3557  |  IL1RN  |  DISEASES
84317  |  CCDC115  |  DISEASES
9394  |  HS6ST1  |  DISEASES
1318  |  SLC31A2  |  DISEASES
570  |  BAAT  |  DISEASES
5168  |  ENPP2  |  DISEASES
7097  |  TLR2  |  DISEASES
4316  |  MMP7  |  DISEASES
4322  |  MMP13  |  DISEASES
7057  |  THBS1  |  DISEASES
3795  |  KHK  |  DISEASES
1559  |  CYP2C9  |  DISEASES
2660  |  MSTN  |  DISEASES
6741  |  SSB  |  DISEASES
9360  |  PPIG  |  DISEASES
30061  |  SLC40A1  |  DISEASES
28234  |  SLCO1B3  |  DISEASES
4659  |  PPP1R12A  |  DISEASES
4069  |  LYZ  |  DISEASES
7450  |  VWF  |  DISEASES
10162  |  LPCAT3  |  DISEASES
949  |  SCARB1  |  DISEASES
217  |  ALDH2  |  DISEASES
2184  |  FAH  |  DISEASES
999  |  CDH1  |  DISEASES
5159  |  PDGFRB  |  DISEASES
58517  |  RBM25  |  DISEASES
4481  |  MSR1  |  DISEASES
54947  |  LPCAT2  |  DISEASES
4092  |  SMAD7  |  DISEASES
4087  |  SMAD2  |  DISEASES
4591  |  TRIM37  |  DISEASES
3595  |  IL12RB2  |  DISEASES
3674  |  ITGA2B  |  DISEASES
495  |  ATP4A  |  DISEASES
5465  |  PPARA  |  DISEASES
7077  |  TIMP2  |  DISEASES
3959  |  LGALS3BP  |  DISEASES
671  |  BPI  |  DISEASES
25939  |  SAMHD1  |  DISEASES
5595  |  MAPK3  |  DISEASES
10133  |  OPTN  |  DISEASES
23523  |  CABIN1  |  DISEASES
2033  |  EP300  |  DISEASES
4924  |  NUCB1  |  DISEASES
3552  |  IL1A  |  DISEASES
3553  |  IL1B  |  DISEASES
645  |  BLVRB  |  DISEASES
23476  |  BRD4  |  DISEASES
1991  |  ELANE  |  DISEASES
975  |  CD81  |  DISEASES
6403  |  SELP  |  DISEASES
4072  |  EPCAM  |  DISEASES
8647  |  ABCB11  |  DISEASES
3791  |  KDR  |  DISEASES
3931  |  LCAT  |  DISEASES
1716  |  DGUOK  |  DISEASES
84083  |  ZRANB3  |  DISEASES
941  |  CD80  |  DISEASES
590  |  BCHE  |  DISEASES
59067  |  IL21  |  DISEASES
2247  |  FGF2  |  DISEASES
1356  |  CP  |  DISEASES
6774  |  STAT3  |  DISEASES
80725  |  SRCIN1  |  DISEASES
3818  |  KLKB1  |  DISEASES
5443  |  POMC  |  DISEASES
3383  |  ICAM1  |  DISEASES
11222  |  MRPL3  |  DISEASES
3827  |  KNG1  |  DISEASES
64083  |  GOLPH3  |  DISEASES
1950  |  EGF  |  DISEASES
10058  |  ABCB6  |  DISEASES
1390  |  CREM  |  DISEASES
23534  |  TNPO3  |  DISEASES
127  |  ADH4  |  DISEASES
4547  |  MTTP  |  DISEASES
644  |  BLVRA  |  DISEASES
64577  |  ALDH8A1  |  DISEASES
5446  |  PON3  |  DISEASES
5244  |  ABCB4  |  DISEASES
3263  |  HPX  |  DISEASES
56938  |  ARNTL2  |  DISEASES
4704  |  NDUFA9  |  DISEASES
6751  |  SSTR1  |  DISEASES
3480  |  IGF1R  |  DISEASES
5371  |  PML  |  DISEASES
54957  |  TXNL4B  |  DISEASES
409  |  ARRB2  |  DISEASES
432  |  ASGR1  |  DISEASES
7157  |  TP53  |  DISEASES
5409  |  PNMT  |  DISEASES
54858  |  PGPEP1  |  DISEASES
3454  |  IFNAR1  |  DISEASES
207  |  AKT1  |  DISEASES
3756  |  KCNH1  |  DISEASES
3930  |  LBR  |  DISEASES
5972  |  REN  |  DISEASES
805  |  CALM2  |  DISEASES
27233  |  SULT1C4  |  DISEASES
3697  |  ITIH1  |  DISEASES
185  |  AGTR1  |  DISEASES
9515  |  STXBP5L  |  DISEASES
2169  |  FABP2  |  DISEASES
80854  |  SETD7  |  DISEASES
635  |  BHMT  |  DISEASES
167410  |  LIX1  |  DISEASES
170954  |  PPP1R18  |  DISEASES
1956  |  EGFR  |  DISEASES
3484  |  IGFBP1  |  DISEASES
92129  |  RIPPLY1  |  DISEASES
55909  |  BIN3  |  DISEASES
8795  |  TNFRSF10B  |  DISEASES
123  |  PLIN2  |  DISEASES
3439  |  IFNA1  |  DISEASES
3934  |  LCN2  |  DISEASES
4851  |  NOTCH1  |  DISEASES
133  |  ADM  |  DISEASES
149986  |  LSM14B  |  DISEASES
1737  |  DLAT  |  DISEASES
3606  |  IL18  |  DISEASES
5741  |  PTH  |  DISEASES
3087  |  HHEX  |  DISEASES
1360  |  CPB1  |  DISEASES
5205  |  ATP8B1  |  DISEASES
6317  |  SERPINB3  |  DISEASES
23576  |  DDAH1  |  DISEASES
7070  |  THY1  |  DISEASES
8714  |  ABCC3  |  DISEASES
760  |  CA2  |  DISEASES
231  |  AKR1B1  |  DISEASES
1436  |  CSF1R  |  DISEASES
10  |  NAT2  |  DISEASES
27163  |  NAAA  |  DISEASES
10563  |  CXCL13  |  DISEASES
7547  |  ZIC3  |  DISEASES
6750  |  SST  |  DISEASES
5468  |  PPARG  |  DISEASES
3815  |  KIT  |  DISEASES
909  |  CD1A  |  DISEASES
29881  |  NPC1L1  |  DISEASES
11309  |  SLCO2B1  |  DISEASES
4681  |  NBL1  |  DISEASES
539  |  ATP5O  |  DISEASES
1636  |  ACE  |  DISEASES
808  |  CALM3  |  DISEASES
326  |  AIRE  |  DISEASES
6285  |  S100B  |  DISEASES
2220  |  FCN2  |  DISEASES
147007  |  TMEM199  |  DISEASES
643  |  CXCR5  |  DISEASES
729230  |  CCR2  |  DISEASES
1234  |  CCR5  |  DISEASES
2264  |  FGFR4  |  DISEASES
3046  |  HBE1  |  DISEASES
114757  |  CYGB  |  DISEASES
6352  |  CCL5  |  DISEASES
6359  |  CCL15  |  DISEASES
3856  |  KRT8  |  DISEASES
10197  |  PSME3  |  DISEASES
51035  |  UBXN1  |  DISEASES
9965  |  FGF19  |  DISEASES
178  |  AGL  |  DISEASES
7412  |  VCAM1  |  DISEASES
2215  |  FCGR3B  |  DISEASES
27306  |  HPGDS  |  DISEASES
4880  |  NPPC  |  DISEASES
248  |  ALPI  |  DISEASES
9076  |  CLDN1  |  DISEASES
3549  |  IHH  |  DISEASES
5274  |  SERPINI1  |  DISEASES
2168  |  FABP1  |  DISEASES
213  |  ALB  |  DISEASES
285368  |  PRRT3  |  DISEASES
5473  |  PPBP  |  DISEASES
1230  |  CCR1  |  DISEASES
128  |  ADH5  |  DISEASES
327  |  APEH  |  DISEASES
84315  |  MON1A  |  DISEASES
308  |  ANXA5  |  DISEASES
3673  |  ITGA2  |  DISEASES
4724  |  NDUFS4  |  DISEASES
6690  |  SPINK1  |  DISEASES
9607  |  CARTPT  |  DISEASES
7098  |  TLR3  |  DISEASES
1437  |  CSF2  |  DISEASES
168667  |  BMPER  |  DISEASES
6469  |  SHH  |  DISEASES
5260  |  PHKG1  |  DISEASES
4846  |  NOS3  |  DISEASES
80270  |  HSD3B7  |  DISEASES
7373  |  COL14A1  |  DISEASES
360  |  AQP3  |  DISEASES
4314  |  MMP3  |  DISEASES
63928  |  CHP2  |  DISEASES
5245  |  PHB  |  DISEASES
90678  |  LRSAM1  |  DISEASES
64127  |  NOD2  |  DISEASES
10308  |  ZNF267  |  DISEASES
1548  |  CYP2A6  |  DISEASES
94274  |  PPP1R14A  |  DISEASES
1581  |  CYP7A1  |  DISEASES
116071  |  BATF2  |  DISEASES
5617  |  PRL  |  DISEASES
598  |  BCL2L1  |  DISEASES
3175  |  ONECUT1  |  DISEASES
3479  |  IGF1  |  DISEASES
3308  |  HSPA4  |  DISEASES
59350  |  RXFP1  |  DISEASES
3688  |  ITGB1  |  DISEASES
8988  |  HSPB3  |  DISEASES
7200  |  TRH  |  DISEASES
1493  |  CTLA4  |  DISEASES
3094  |  HINT1  |  DISEASES
171558  |  PTCRA  |  DISEASES
79071  |  ELOVL6  |  DISEASES
375611  |  SLC26A5  |  DISEASES
3667  |  IRS1  |  DISEASES
8862  |  APLN  |  DISEASES
3627  |  CXCL10  |  DISEASES
6579  |  SLCO1A2  |  DISEASES
3575  |  IL7R  |  DISEASES
2353  |  FOS  |  DISEASES
149603  |  RNF187  |  DISEASES
3669  |  ISG20  |  DISEASES
125  |  ADH1B  |  DISEASES
727851  |  RGPD8  |  DISEASES
6373  |  CXCL11  |  DISEASES
646  |  BNC1  |  DISEASES
9451  |  EIF2AK3  |  DISEASES
54205  |  CYCS  |  DISEASES
27087  |  B3GAT1  |  DISEASES
2752  |  GLUL  |  DISEASES
4323  |  MMP14  |  DISEASES
150684  |  COMMD1  |  DISEASES
64081  |  PBLD  |  DISEASES
2147  |  F2  |  DISEASES
9940  |  DLEC1  |  DISEASES
344561  |  GPR148  |  DISEASES
5340  |  PLG  |  DISEASES
1212  |  CLTB  |  DISEASES
7015  |  TERT  |  DISEASES
3265  |  HRAS  |  DISEASES
6868  |  ADAM17  |  DISEASES
947  |  CD34  |  DISEASES
2829  |  XCR1  |  DISEASES
9420  |  CYP7B1  |  DISEASES
2286  |  FKBP2  |  DISEASES
836  |  CASP3  |  DISEASES
358  |  AQP1  |  DISEASES
118430  |  MUCL1  |  DISEASES
2944  |  GSTM1  |  DISEASES
22949  |  PTGR1  |  DISEASES
84868  |  HAVCR2  |  DISEASES
7351  |  UCP2  |  DISEASES
8639  |  AOC3  |  DISEASES
3952  |  LEP  |  DISEASES
3172  |  HNF4A  |  DISEASES
5257  |  PHKB  |  DISEASES
285  |  ANGPT2  |  DISEASES
1909  |  EDNRA  |  DISEASES
1191  |  CLU  |  DISEASES
6773  |  STAT2  |  DISEASES
55109  |  AGGF1  |  DISEASES
8560  |  DEGS1  |  DISEASES
65987  |  KCTD14  |  DISEASES
3291  |  HSD11B2  |  DISEASES
4233  |  MET  |  DISEASES
9475  |  ROCK2  |  DISEASES
4684  |  NCAM1  |  DISEASES
54984  |  PINX1  |  DISEASES
63951  |  DMRTA1  |  DISEASES
9370  |  ADIPOQ  |  DISEASES
6863  |  TAC1  |  DISEASES
6888  |  TALDO1  |  DISEASES
4018  |  LPA  |  DISEASES
51582  |  AZIN1  |  DISEASES
3996  |  LLGL1  |  DISEASES
10611  |  PDLIM5  |  DISEASES
6014  |  RIT2  |  DISEASES
5345  |  SERPINF2  |  DISEASES
6181  |  RPLP2  |  DISEASES
3039  |  HBA1  |  DISEASES
4312  |  MMP1  |  DISEASES
8706  |  B3GALNT1  |  DISEASES
2837  |  UTS2R  |  DISEASES
2  |  A2M  |  DISEASES
3309  |  HSPA5  |  DISEASES
1555  |  CYP2B6  |  DISEASES
9159  |  PCSK7  |  DISEASES
9622  |  KLK4  |  DISEASES
4843  |  NOS2  |  DISEASES
706  |  TSPO  |  DISEASES
3855  |  KRT7  |  DISEASES
6906  |  SERPINA7  |  DISEASES
50616  |  IL22  |  DISEASES
8651  |  SOCS1  |  DISEASES
9021  |  SOCS3  |  DISEASES
5155  |  PDGFB  |  DISEASES
3953  |  LEPR  |  DISEASES
729540  |  RGPD6  |  DISEASES
9146  |  HGS  |  DISEASES
2520  |  GAST  |  DISEASES
54328  |  GPR173  |  DISEASES
6401  |  SELE  |  DISEASES
796  |  CALCA  |  DISEASES
64782  |  AEN  |  DISEASES
942  |  CD86  |  DISEASES
256933  |  NPB  |  DISEASES
4088  |  SMAD3  |  DISEASES
5104  |  SERPINA5  |  DISEASES
3916  |  LAMP1  |  DISEASES
682  |  BSG  |  DISEASES
3043  |  HBB  |  DISEASES
2152  |  F3  |  DISEASES
220001  |  VWCE  |  DISEASES
256394  |  SERPINA11  |  DISEASES
5133  |  PDCD1  |  DISEASES
51738  |  GHRL  |  DISEASES
3320  |  HSP90AA1  |  DISEASES
2938  |  GSTA1  |  DISEASES
885  |  CCK  |  DISEASES
8856  |  NR1I2  |  DISEASES
2266  |  FGG  |  DISEASES
1058  |  CENPA  |  DISEASES
148738  |  HFE2  |  DISEASES
1908  |  EDN3  |  DISEASES
55166  |  CENPQ  |  DISEASES
3988  |  LIPA  |  DISEASES
1551  |  CYP3A7  |  DISEASES
4842  |  NOS1  |  DISEASES
84324  |  SARNP  |  DISEASES
57142  |  RTN4  |  DISEASES
1576  |  CYP3A4  |  DISEASES
3363  |  HTR7  |  DISEASES
3091  |  HIF1A  |  DISEASES
554  |  AVPR2  |  DISEASES
3141  |  HLCS  |  DISEASES
23583  |  SMUG1  |  DISEASES
7360  |  UGP2  |  DISEASES
2686  |  GGT7  |  DISEASES
3266  |  ERAS  |  DISEASES
857  |  CAV1  |  DISEASES
2309  |  FOXO3  |  DISEASES
200810  |  ALG1L  |  DISEASES
3329  |  HSPD1  |  DISEASES
8788  |  DLK1  |  DISEASES
6609  |  SMPD1  |  DISEASES
4306  |  NR3C2  |  DISEASES
4089  |  SMAD4  |  DISEASES
1528  |  CYB5A  |  DISEASES
27159  |  CHIA  |  DISEASES
1544  |  CYP1A2  |  DISEASES
1508  |  CTSB  |  DISEASES
6692  |  SPINT1  |  DISEASES
866  |  SERPINA6  |  DISEASES
6672  |  SP100  |  DISEASES
84552  |  PARD6G  |  DISEASES
6318  |  SERPINB4  |  DISEASES
127665  |  ZNF648  |  DISEASES
3605  |  IL17A  |  DISEASES
8720  |  MBTPS1  |  DISEASES
1499  |  CTNNB1  |  DISEASES
26762  |  HAVCR1  |  DISEASES
84706  |  GPT2  |  DISEASES
389840  |  MAP3K15  |  DISEASES
302  |  ANXA2  |  DISEASES
6275  |  S100A4  |  DISEASES
54600  |  UGT1A9  |  DISEASES
8654  |  PDE5A  |  DISEASES
954  |  ENTPD2  |  DISEASES
100506658  |  OCLN  |  DISEASES
83593  |  RASSF5  |  DISEASES
80781  |  COL18A1  |  DISEASES
355  |  FAS  |  DISEASES
5265  |  SERPINA1  |  DISEASES
6720  |  SREBF1  |  DISEASES
2074  |  ERCC6  |  DISEASES
3240  |  HP  |  DISEASES
1953  |  MEGF6  |  DISEASES
2224  |  FDPS  |  DISEASES
4100  |  MAGEA1  |  DISEASES
3482  |  IGF2R  |  DISEASES
801  |  CALM1  |  DISEASES
11186  |  RASSF1  |  DISEASES
3663  |  IRF5  |  DISEASES
60  |  ACTB  |  DISEASES
6752  |  SSTR2  |  DISEASES
871  |  SERPINH1  |  DISEASES
26136  |  TES  |  DISEASES
6714  |  SRC  |  DISEASES
51643  |  TMBIM4  |  DISEASES
1524  |  CX3CR1  |  DISEASES
1969  |  EPHA2  |  DISEASES
6775  |  STAT4  |  DISEASES
841  |  CASP8  |  DISEASES
9652  |  TTC37  |  DISEASES
112476  |  PRRT2  |  DISEASES
6364  |  CCL20  |  DISEASES
92689  |  FAM114A1  |  DISEASES
23644  |  EDC4  |  DISEASES
7048  |  TGFBR2  |  DISEASES
389376  |  SFTA2  |  DISEASES
9332  |  CD163  |  DISEASES
617  |  BCS1L  |  DISEASES
4192  |  MDK  |  DISEASES
79892  |  MCMBP  |  DISEASES
3123  |  HLA-DRB1  |  DISEASES
7037  |  TFRC  |  DISEASES
2157  |  F8  |  DISEASES
4478  |  MSN  |  DISEASES
5599  |  MAPK8  |  DISEASES
4311  |  MME  |  DISEASES
1803  |  DPP4  |  DISEASES
58506  |  SCAF1  |  DISEASES
1565  |  CYP2D6  |  DISEASES
54106  |  TLR9  |  DISEASES
26580  |  BSCL2  |  DISEASES
2673  |  GFPT1  |  DISEASES
6772  |  STAT1  |  DISEASES
10367  |  MICU1  |  DISEASES
2475  |  MTOR  |  DISEASES
5742  |  PTGS1  |  DISEASES
10724  |  MGEA5  |  DISEASES
4283  |  CXCL9  |  DISEASES
3880  |  KRT19  |  DISEASES
84072  |  HORMAD1  |  DISEASES
8678  |  BECN1  |  DISEASES
23038  |  WDTC1  |  DISEASES
7052  |  TGM2  |  DISEASES
27350  |  APOBEC3C  |  DISEASES
8443  |  GNPAT  |  DISEASES
183  |  AGT  |  DISEASES
58  |  ACTA1  |  DISEASES
28514  |  DLL1  |  DISEASES
116841  |  SNAP47  |  DISEASES
55532  |  SLC30A10  |  DISEASES
1063  |  CENPF  |  DISEASES
1378  |  CR1  |  DISEASES
7432  |  VIP  |  DISEASES
59349  |  KLHL12  |  DISEASES
5788  |  PTPRC  |  DISEASES
163486  |  DENND1B  |  DISEASES
3075  |  CFH  |  DISEASES
6738  |  TROVE2  |  DISEASES
5743  |  PTGS2  |  DISEASES
462  |  SERPINC1  |  DISEASES
356  |  FASLG  |  DISEASES
6446  |  SGK1  |  DISEASES
127943  |  FCRLB  |  DISEASES
2214  |  FCGR3A  |  DISEASES
1490  |  CTGF  |  DISEASES
9970  |  NR1I3  |  DISEASES
336  |  APOA2  |  DISEASES
51744  |  CD244  |  DISEASES
383  |  ARG1  |  DISEASES
154075  |  SAMD3  |  DISEASES
911  |  CD1C  |  DISEASES
912  |  CD1D  |  DISEASES
922  |  CD5L  |  DISEASES
10485  |  C1orf61  |  DISEASES
632  |  BGLAP  |  DISEASES
4582  |  MUC1  |  DISEASES
55974  |  SLC50A1  |  DISEASES
259217  |  HSPA12A  |  DISEASES
914  |  CD2  |  DISEASES
965  |  CD58  |  DISEASES
65991  |  FUNDC2  |  DISEASES
1268  |  CNR1  |  DISEASES
8771  |  TNFRSF6B  |  DISEASES
1629  |  DBT  |  DISEASES
164045  |  HFM1  |  DISEASES
1244  |  ABCC2  |  DISEASES
959  |  CD40LG  |  DISEASES
55361  |  PI4K2A  |  DISEASES
1491  |  CTH  |  DISEASES
2941  |  GSTA4  |  DISEASES
1791  |  DNTT  |  DISEASES
3725  |  JUN  |  DISEASES
1557  |  CYP2C19  |  DISEASES
5950  |  RBP4  |  DISEASES
55268  |  ECHDC2  |  DISEASES
11093  |  ADAMTS13  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
4143  |  MAT1A  |  DISEASES
958  |  CD40  |  DISEASES
4318  |  MMP9  |  DISEASES
4352  |  MPL  |  DISEASES
4904  |  YBX1  |  DISEASES
5328  |  PLAU  |  DISEASES
27232  |  GNMT  |  DISEASES
100  |  ADA  |  DISEASES
84647  |  PLA2G12B  |  DISEASES
2022  |  ENG  |  DISEASES
1025  |  CDK9  |  DISEASES
54577  |  UGT1A7  |  DISEASES
5292  |  PIM1  |  DISEASES
2833  |  CXCR3  |  DISEASES
4702  |  NDUFA8  |  DISEASES
22943  |  DKK1  |  DISEASES
7099  |  TLR4  |  DISEASES
9966  |  TNFSF15  |  DISEASES
23585  |  TMEM50A  |  DISEASES
1269  |  CNR2  |  DISEASES
1896  |  EDA  |  DISEASES
3339  |  HSPG2  |  DISEASES
229  |  ALDOB  |  DISEASES
7046  |  TGFBR1  |  DISEASES
2155  |  F7  |  DISEASES
401541  |  CENPP  |  DISEASES
728239  |  MAGED4  |  DISEASES
3303  |  HSPA1A  |  DISEASES
1192  |  CLIC1  |  DISEASES
388595  |  TMEM82  |  DISEASES
23564  |  DDAH2  |  DISEASES
53358  |  SHC3  |  DISEASES
3055  |  HCK  |  DISEASES
50943  |  FOXP3  |  DISEASES
100507436  |  MICA  |  DISEASES
6941  |  TCF19  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
1041  |  CDSN  |  DISEASES
729956  |  SHISA7  |  DISEASES
56850  |  GRIPAP1  |  DISEASES
4879  |  NPPB  |  DISEASES
4878  |  NPPA  |  DISEASES
4524  |  MTHFR  |  DISEASES
147798  |  TMC4  |  DISEASES
3105  |  HLA-A  |  DISEASES
10257  |  ABCC4  |  DISEASES
1471  |  CST3  |  DISEASES
10253  |  SPRY2  |  DISEASES
7056  |  THBD  |  DISEASES
1910  |  EDNRB  |  DISEASES
338596  |  ST8SIA6  |  DISEASES
6461  |  SHB  |  DISEASES
8718  |  TNFRSF25  |  DISEASES
4609  |  MYC  |  DISEASES
9308  |  CD83  |  DISEASES
1906  |  EDN1  |  DISEASES
3096  |  HIVEP1  |  DISEASES
9636  |  ISG15  |  DISEASES
444  |  ASPH  |  DISEASES
1543  |  CYP1A1  |  DISEASES
1059  |  CENPB  |  DISEASES
23586  |  DDX58  |  DISEASES
25820  |  ARIH1  |  DISEASES
5256  |  PHKA2  |  DISEASES
3559  |  IL2RA  |  DISEASES
3704  |  ITPA  |  DISEASES
3440  |  IFNA2  |  DISEASES
3456  |  IFNB1  |  DISEASES
551  |  AVP  |  DISEASES
6462  |  SHBG  |  DISEASES
5277  |  PIGA  |  DISEASES
3030  |  HADHA  |  DISEASES
51284  |  TLR7  |  DISEASES
1646  |  AKR1C2  |  DISEASES
1645  |  AKR1C1  |  DISEASES
3486  |  IGFBP3  |  DISEASES
11082  |  ESM1  |  DISEASES
90865  |  IL33  |  DISEASES
53919  |  SLCO1C1  |  DISEASES
29126  |  CD274  |  DISEASES
3717  |  JAK2  |  DISEASES
51091  |  SEPSECS  |  DISEASES
3083  |  HGFAC  |  DISEASES
93492  |  TPTE2  |  DISEASES
6736  |  SRY  |  DISEASES
51280  |  GOLM1  |  DISEASES
3875  |  KRT18  |  DISEASES
339965  |  CCDC158  |  DISEASES
4017  |  LOXL2  |  DISEASES
53345  |  TM6SF2  |  DISEASES
8878  |  SQSTM1  |  DISEASES
79866  |  BORA  |  DISEASES
51070  |  NOSIP  |  DISEASES
250  |  ALPP  |  DISEASES
11262  |  SP140  |  DISEASES
10203  |  CALCRL  |  DISEASES
29994  |  BAZ2B  |  DISEASES
51466  |  EVL  |  DISEASES
12  |  SERPINA3  |  DISEASES
114898  |  C1QTNF2  |  DISEASES
5627  |  PROS1  |  DISEASES
2719  |  GPC3  |  DISEASES
51520  |  LARS  |  DISEASES
6355  |  CCL8  |  DISEASES
64400  |  AKTIP  |  DISEASES
79842  |  ZBTB3  |  DISEASES
374786  |  EFCAB5  |  DISEASES
4891  |  SLC11A2  |  DISEASES
2875  |  GPT  |  DISEASES
6696  |  SPP1  |  DISEASES
3965  |  LGALS9  |  DISEASES
4239  |  MFAP4  |  DISEASES
2919  |  CXCL1  |  DISEASES
174  |  AFP  |  DISEASES
6387  |  CXCL12  |  DISEASES
27327  |  TNRC6A  |  DISEASES
655  |  BMP7  |  DISEASES
130340  |  AP1S3  |  DISEASES
10379  |  IRF9  |  DISEASES
4599  |  MX1  |  DISEASES
2950  |  GSTP1  |  DISEASES
3119  |  HLA-DQB1  |  DISEASES
2199  |  FBLN2  |  DISEASES
6654  |  SOS1  |  DISEASES
2160  |  F11  |  DISEASES
60489  |  APOBEC3G  |  DISEASES
728441  |  GGT2  |  DISEASES
7018  |  TF  |  DISEASES
1363  |  CPE  |  DISEASES
210  |  ALAD  |  DISEASES
7852  |  CXCR4  |  DISEASES
501  |  ALDH7A1  |  DISEASES
23066  |  CAND2  |  DISEASES
2641  |  GCG  |  DISEASES
4295  |  MLN  |  DISEASES
6916  |  TBXAS1  |  DISEASES
3120  |  HLA-DQB2  |  DISEASES
51099  |  ABHD5  |  DISEASES
3481  |  IGF2  |  DISEASES
8671  |  SLC4A4  |  DISEASES
3113  |  HLA-DPA1  |  DISEASES
197  |  AHSG  |  DISEASES
23210  |  JMJD6  |  DISEASES
85443  |  DCLK3  |  DISEASES
1029  |  CDKN2A  |  DISEASES
720  |  C4A  |  DISEASES
55665  |  URGCP  |  DISEASES
57511  |  COG6  |  DISEASES
93349  |  SP140L  |  DISEASES
79831  |  KDM8  |  DISEASES
960  |  CD44  |  DISEASES
3702  |  ITK  |  DISEASES
7124  |  TNF  |  DISEASES
3491  |  CYR61  |  DISEASES
3106  |  HLA-B  |  DISEASES
10165  |  SLC25A13  |  DISEASES
387  |  RHOA  |  DISEASES
4615  |  MYD88  |  DISEASES
57506  |  MAVS  |  DISEASES
5817  |  PVR  |  DISEASES
388372  |  CCL4L1  |  DISEASES
6522  |  SLC4A2  |  DISEASES
9498  |  SLC4A8  |  DISEASES
3276  |  PRMT1  |  DISEASES
4588  |  MUC6  |  DISEASES
5830  |  PEX5  |  DISEASES
3115  |  HLA-DPB1  |  DISEASES
1154  |  CISH  |  DISEASES
4050  |  LTB  |  DISEASES
23658  |  LSM5  |  DISEASES
2632  |  GBE1  |  DISEASES
3451  |  IFNA17  |  DISEASES
3586  |  IL10  |  DISEASES
55758  |  RCOR3  |  DISEASES
26065  |  LSM14A  |  DISEASES
5682  |  PSMA1  |  DISEASES
8842  |  PROM1  |  DISEASES
133396  |  IL31RA  |  DISEASES
721  |  C4B  |  DISEASES
85441  |  HELZ2  |  DISEASES
3077  |  HFE  |  DISEASES
374308  |  PTCHD3  |  DISEASES
338376  |  IFNE  |  DISEASES
4700  |  NDUFA6  |  DISEASES
10209  |  EIF1  |  DISEASES
1316  |  KLF6  |  DISEASES
846  |  CASR  |  DISEASES
131  |  ADH7  |  DISEASES
2638  |  GC  |  DISEASES
56034  |  PDGFC  |  DISEASES
51428  |  DDX41  |  DISEASES
2994  |  GYPB  |  DISEASES
284  |  ANGPT1  |  DISEASES
151306  |  GPBAR1  |  DISEASES
9685  |  CLINT1  |  DISEASES
4147  |  MATN2  |  DISEASES
9843  |  HEPH  |  DISEASES
930  |  CD19  |  DISEASES
3684  |  ITGAM  |  DISEASES
586  |  BCAT1  |  DISEASES
8284  |  KDM5D  |  DISEASES
6999  |  TDO2  |  DISEASES
9971  |  NR1H4  |  DISEASES
7421  |  VDR  |  DISEASES
8972  |  MGAM  |  DISEASES
26037  |  SIPA1L1  |  DISEASES
5228  |  PGF  |  DISEASES
9051  |  PSTPIP1  |  DISEASES
567  |  B2M  |  DISEASES
11245  |  GPR176  |  DISEASES
3949  |  LDLR  |  DISEASES
5261  |  PHKG2  |  DISEASES
388588  |  SMIM1  |  DISEASES
820  |  CAMP  |  DISEASES
284424  |  MIR7-3HG  |  DISEASES
246734  |  NPCDR1  |  DISEASES
6689  |  SPIB  |  DISEASES
6625  |  SNRNP70  |  DISEASES
401561  |  LINC01451  |  DISEASES
7012  |  TERC  |  DISEASES
102800311  |  TP53COR1  |  DISEASES
101669766  |  ZNF350-AS1  |  DISEASES
Locus(Waiting for update.)
Disease ID 719
Disease liver cirrhosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:140)
HP:0012115  |  Liver inflammation  |  76
HP:0001402  |  Hepatocellular carcinoma  |  74
HP:0030731  |  Carcinoma  |  73
HP:0001409  |  Portal hypertension  |  72
HP:0000822  |  Hypertension  |  69
HP:0001541  |  Ascites  |  54
HP:0001298  |  Encephalopathy  |  38
HP:0002480  |  Hepatic encephalopathy  |  31
HP:0200123  |  Chronic liver inflammation  |  30
HP:0002586  |  Peritonitis  |  18
HP:0002664  |  Neoplasia  |  14
HP:0100790  |  Hernia  |  13
HP:0030242  |  Blood clot in portal vein  |  12
HP:0001873  |  Low platelet count  |  12
HP:0004395  |  Malnutrition  |  12
HP:0002896  |  Liver cancer  |  11
HP:0001744  |  Splenomegaly  |  11
HP:0001971  |  Hypersplenism  |  11
HP:0001537  |  Umbilical hernias  |  9
HP:0002584  |  Intestinal hemorrhage  |  9
HP:0002239  |  Gastrointestinal hemorrhage  |  9
HP:0001410  |  Decreased liver function  |  7
HP:0000855  |  Insulin resistance  |  6
HP:0001919  |  Acute renal failure  |  6
HP:0000969  |  Dropsy  |  6
HP:0003073  |  Hypoalbuminaemia  |  6
HP:0001081  |  Gallstones  |  5
HP:0002202  |  Pleural effusion  |  5
HP:0006562  |  Viral hepatitis  |  5
HP:0001399  |  Liver failure  |  5
HP:0000083  |  Renal insufficiency  |  5
HP:0002090  |  Pneumonia  |  5
HP:0100806  |  Sepsis  |  4
HP:0001903  |  Anemia  |  4
HP:0000819  |  Diabetes mellitus  |  4
HP:0003256  |  Coagulopathy  |  4
HP:0001677  |  Coronary artery disease  |  4
HP:0000833  |  Glucose intolerance  |  3
HP:0001892  |  Bleeding diathesis  |  3
HP:0000716  |  Depression  |  3
HP:0030151  |  Cholangitis  |  3
HP:0001394  |  Hepatic cirrhosis  |  3
HP:0001907  |  Thromboembolic disease  |  3
HP:0000739  |  Anxiety  |  3
HP:0012126  |  Gastric cancer  |  3
HP:0000023  |  Inguinal hernia  |  3
HP:0004398  |  Peptic ulcer  |  3
HP:0003075  |  Hypoproteinemia  |  3
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  3
HP:0001513  |  Obesity  |  3
HP:0000939  |  Osteoporosis  |  2
HP:0010310  |  Chylothorax  |  2
HP:0004713  |  Reversible renal failure  |  2
HP:0000952  |  Yellow skin  |  2
HP:0002617  |  Aneurysmal dilatation  |  2
HP:0001395  |  Hepatic fibrosis  |  2
HP:0000979  |  Purpura  |  2
HP:0001028  |  Strawberry mark  |  2
HP:0003774  |  End-stage renal failure  |  2
HP:0001396  |  Cholestasis  |  2
HP:0030153  |  Cholangiocarcinoma  |  2
HP:0100543  |  Cognitive deficits  |  2
HP:0005912  |  Biliary duct atresia  |  2
HP:0000846  |  Hypoadrenalism  |  2
HP:0002902  |  Hyponatremia  |  2
HP:0002719  |  infections, recurrent  |  2
HP:0005521  |  Disseminated intravascular coagulation  |  2
HP:0002718  |  Recurrent pyogenic infections  |  2
HP:0002578  |  Gastroparesis  |  2
HP:0002459  |  Dysautonomia  |  2
HP:0001406  |  Intrahepatic cholestasis  |  2
HP:0100033  |  Tic disorder  |  2
HP:0002597  |  Abnormality of blood vessels  |  2
HP:0001300  |  Parkinsonism  |  2
HP:0002619  |  Varicose veins  |  2
HP:0001878  |  Haemolytic anaemia  |  1
HP:0000842  |  Elevated insulin level  |  1
HP:0001876  |  Low blood cell count  |  1
HP:0001928  |  Abnormal blood coagulation studies  |  1
HP:0002242  |  Enteropathy  |  1
HP:0002625  |  Blood clot in a deep vein  |  1
HP:0100584  |  Endocarditis  |  1
HP:0003764  |  Naevus  |  1
HP:0003201  |  Rhabdomyolysis  |  1
HP:0002071  |  Extrapyramidal dysfunction  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0002313  |  Spastic paraparesis  |  1
HP:0008151  |  Prolonged prothrombin time  |  1
HP:0012531  |  Pain  |  1
HP:0000938  |  Decreased bone mineral density  |  1
HP:0012378  |  Fatigue  |  1
HP:0001287  |  Meningitis  |  1
HP:0001875  |  Neutropenia  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0002093  |  progressive respiratory failure  |  1
HP:0007256  |  Abnormal pyramidal signs  |  1
HP:0002094  |  Dyspnea  |  1
HP:0001259  |  Coma  |  1
HP:0001657  |  Prolonged QT interval  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0100890  |  Cyst of the ductus choledochus  |  1
HP:0100844  |  Pancreatic fistula  |  1
HP:0045038  |  Primary gastric lymphoma  |  1
HP:0002621  |  Atherosclerosis  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0002563  |  Constrictive pericarditis  |  1
HP:0100762  |  Hemobilia  |  1
HP:0003159  |  Hyperoxaluria  |  1
HP:0003394  |  Muscle cramps  |  1
HP:0007018  |  Attention deficits  |  1
HP:0012418  |  Low blood oxygen level  |  1
HP:0001890  |  Autoimmune hemolytic anemia  |  1
HP:0002040  |  Esophageal varix  |  1
HP:0002385  |  Paraparesis  |  1
HP:0002639  |  Budd-Chiari syndrome  |  1
HP:0001337  |  Tremor  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0001004  |  Lymphatic obstruction  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0003074  |  High blood glucose  |  1
HP:0002665  |  Lymphoma  |  1
HP:0000135  |  Hypogonadism  |  1
HP:0001882  |  Decreased blood leukocyte number  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0002840  |  Lymphadenitis  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0006689  |  Bacterial endocarditis  |  1
HP:0007335  |  Recurrent encephalopathy  |  1
HP:0100523  |  Hepatic abscess  |  1
HP:0001397  |  Hepatic steatosis  |  1
HP:0001987  |  Hyperammonemia  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0002181  |  Cerebral edema  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0001952  |  Abnormal glucose tolerance  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0100537  |  Inflammation of the fascia  |  1
HP:0002196  |  Myelopathy  |  1
Disease ID 719
Disease liver cirrhosis
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:120)
C0019158  |  hepatitis  |  76
C0019204  |  hepatocellular carcinoma  |  74
C0020541  |  portal hypertension  |  72
C0009450  |  infection  |  71
C0019163  |  hepatitis b  |  43
C0085584  |  encephalopathy  |  38
C0042345  |  varices  |  38
C0019151  |  hepatic encephalopathy  |  31
C0014867  |  esophageal varices  |  25
C0023895  |  liver disease  |  23
C0021311  |  infections  |  22
C0031154  |  peritonitis  |  18
C0040053  |  thrombosis  |  15
C0341503  |  bacterial peritonitis  |  14
C0275551  |  spontaneous bacterial peritonitis  |  13
C0155773  |  portal vein thrombosis  |  12
C0162429  |  malnutrition  |  12
C0020532  |  hypersplenism  |  11
C0040034  |  thrombocytopenia  |  11
C0019080  |  hemorrhage  |  11
C0019322  |  umbilical hernia  |  9
C0011847  |  diabetes  |  8
C0004610  |  bacteremia  |  8
C0267373  |  intestinal bleeding  |  7
C0023903  |  liver cancer  |  7
C0004623  |  bacterial infection  |  6
C0426768  |  o sign  |  5
C0032227  |  pleural effusion  |  5
C0019212  |  hepatorenal syndrome  |  5
C0008350  |  gallstones  |  5
C0011849  |  diabetes mellitus  |  4
C0005779  |  coagulopathy  |  4
C0010068  |  coronary artery disease  |  4
C0036690  |  sepsis  |  4
C0264009  |  osteodystrophy  |  3
C0035078  |  renal failure  |  3
C0002871  |  anemia  |  3
C0041296  |  tuberculosis  |  3
C0271650  |  glucose intolerance  |  3
C0020312  |  hydrothorax  |  3
C0600452  |  hepatopulmonary syndrome  |  3
C0085605  |  liver failure  |  3
C0004623  |  bacterial infections  |  3
C1839611  |  n syndrome  |  3
C0020639  |  hypoproteinemia  |  3
C0037140  |  b virus infection  |  3
C0011570  |  depression  |  3
C0024623  |  gastric cancer  |  3
C0030920  |  peptic ulcer disease  |  3
C0242422  |  parkinsonism  |  2
C0018916  |  hemangioma  |  2
C1565489  |  renal insufficiency  |  2
C0023907  |  liver regeneration  |  2
C0002940  |  aneurysm  |  2
C0020625  |  hyponatremia  |  2
C0042345  |  varicose veins  |  2
C0030920  |  peptic ulcer  |  2
C0948807  |  hepatic impairment  |  2
C0008370  |  cholestasis  |  2
C0029456  |  osteoporosis  |  2
C0012739  |  disseminated intravascular coagulation  |  2
C0085605  |  hepatic failure  |  2
C0001623  |  adrenal insufficiency  |  2
C0017181  |  gastrointestinal hemorrhage  |  2
C0014009  |  empyema  |  2
C0008733  |  chylothorax  |  2
C0019204  |  hepatocarcinoma  |  2
C0017145  |  gastric varices  |  2
C0701818  |  choledocholithiasis  |  2
C0155773  |  portal thrombosis  |  1
C0856761  |  budd-chiari syndrome  |  1
C0037928  |  myelopathy  |  1
C0238124  |  necrotizing fasciitis  |  1
C0019204  |  hepatic carcinoma  |  1
C0033677  |  protein-energy malnutrition  |  1
C0267211  |  gastric antral vascular ectasia  |  1
C0005944  |  metabolic bone disease  |  1
C0000737  |  abdominal pain  |  1
C0014121  |  infective endocarditis  |  1
C0235950  |  zinc deficiency  |  1
C0206698  |  cholangiocarcinoma  |  1
C0349422  |  steal syndrome  |  1
C0030312  |  pancytopenia  |  1
C0234133  |  extrapyramidal signs  |  1
C0000727  |  acute abdomen  |  1
C0021079  |  immunosuppression  |  1
C0001973  |  alcoholism  |  1
C0025289  |  meningitis  |  1
C0000833  |  abscess  |  1
C0036472  |  scrub typhus  |  1
C0747764  |  portal gastropathy  |  1
C0242379  |  lung cancer  |  1
C0016169  |  fistula  |  1
C0040822  |  tremors  |  1
C0235401  |  abnormal glucose tolerance  |  1
C0231303  |  distress  |  1
C0036690  |  septicemia  |  1
C0026821  |  muscle cramps  |  1
C0863194  |  resectable hepatocellular carcinoma  |  1
C0796095  |  c syndrome  |  1
C0018944  |  hematoma  |  1
C0002959  |  vascular ectasia  |  1
C0025517  |  metabolism disorders  |  1
C0026846  |  muscle wasting  |  1
C0020459  |  hyperinsulinemia  |  1
C0038454  |  stroke  |  1
C0162510  |  caroli's disease  |  1
C0002893  |  refractory anaemia  |  1
C0023530  |  leukopenia  |  1
C0013604  |  oedema  |  1
C0947622  |  cholecystolithiasis  |  1
C0014867  |  esophageal varix  |  1
C1393529  |  vascular complications  |  1
C0155747  |  splenic artery aneurysm  |  1
C0022660  |  acute renal failure  |  1
C0004153  |  atherosclerosis  |  1
C0085437  |  bacterial meningitis  |  1
C1257958  |  glucose metabolism disorders  |  1
C0014867  |  oesophageal varices  |  1
C0020619  |  hypogonadism  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:129)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1140409200229621655DDX5umls:C0023890BeFreeWe recently identified a missense single nucleotide polymorphism (SNP) in DDX5 (rs1140409, p.S480A) that enhances the risk of developing cirrhosis.0.0029957922010DDX5;MIR30641764500552AC
rs1140409200229621655DDX5umls:C1623038BeFreeWe recently identified a missense single nucleotide polymorphism (SNP) in DDX5 (rs1140409, p.S480A) that enhances the risk of developing cirrhosis.0.0002714422010DDX5;MIR30641764500552AC
rs1155788015941661183AGTumls:C1623038BeFreeIn this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta1 (codon 10 Leu/Pro, codon 25 Arg/Pro), TNF-alpha (-308 G/A, -238 G/A) and angiotensinogen (-6 G/A) on the development of cirrhosis in HHC.0.0002714422005AGT1230714088TC
rs1155788015941661183AGTumls:C0023890BeFreeIn this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta1 (codon 10 Leu/Pro, codon 25 Arg/Pro), TNF-alpha (-308 G/A, -238 G/A) and angiotensinogen (-6 G/A) on the development of cirrhosis in HHC.0.2178267442005AGT1230714088TC
rs123046472424873384668FAM126Aumls:C0023890BeFreeIn conclusion, the miR-196a-2 rs12304647 CC genotype had a protective effect against development of HCC in comparison to the AA or AC genotypes in patients with chronic hepatitis and cirrhosis.0.0176437222013MIR196A21253991163AC
rs123046472424873384668FAM126Aumls:C1623038BeFreeIn conclusion, the miR-196a-2 rs12304647 CC genotype had a protective effect against development of HCC in comparison to the AA or AC genotypes in patients with chronic hepatitis and cirrhosis.0.0116722013MIR196A21253991163AC
rs1297986021146242282617IFNL3umls:C1623038BeFreeIL-28B rs12979860 C/T polymorphism T allele is more prevalent in patients with viral cirrhosis due to HCV in comparison to other aetiologies and to patients with mild chronic hepatitis C. Among OLT patients, carriage of this allele seems to augment the risk of developing HCC.0.0051573962011IFNL3;IFNL41939248147CT
rs1297986025420838282617IFNL3umls:C1623038BeFreeCC genotype at rs12979860 of IL28B is associated with lower risk of new-onset diabetes after transplantation in adult patients with liver transplantation for hepatitis C cirrhosis.0.0051573962015IFNL3;IFNL41939248147CT
rs1297986024026885282617IFNL3umls:C0023890BeFreeCarriage of IL28B rs12979860 CC genotype was associated with an increased risk for developing liver cirrhosis among patients with HBV infection (CC vs CT + TT: OR = 1.39, 95 % CI = 1.04-1.85).0.0083387532013IFNL3;IFNL41939248147CT
rs1297986021146242282617IFNL3umls:C0023890BeFreeIL-28B rs12979860 C/T allele distribution in patients with liver cirrhosis: role in the course of chronic viral hepatitis and the development of HCC.0.0083387532011IFNL3;IFNL41939248147CT
rs129798602550407880339PNPLA3umls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0054288372014IFNL3;IFNL41939248147CT
rs12979860255040781950EGFumls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0019000932014IFNL3;IFNL41939248147CT
rs129798602550407880339PNPLA3umls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0080673112014IFNL3;IFNL41939248147CT
rs1297986025420838282617IFNL3umls:C0023890BeFreeCC genotype at rs12979860 of IL28B is associated with lower risk of new-onset diabetes after transplantation in adult patients with liver transplantation for hepatitis C cirrhosis.0.0083387532015IFNL3;IFNL41939248147CT
rs12979860255040781950EGFumls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0072629172014IFNL3;IFNL41939248147CT
rs1297986021813376282617IFNL3umls:C1623038BeFreeRecently, the rs12979860 C/T polymorphism in the IL28B gene has been linked to progression towards cirrhosis in HCV mono-infected patients and to treatment response of HCV-infection in HIV/HCV co-infected patients.0.0051573962011IFNL3;IFNL41939248147CT
rs1297986021813376282617IFNL3umls:C0023890BeFreeRecently, the rs12979860 C/T polymorphism in the IL28B gene has been linked to progression towards cirrhosis in HCV mono-infected patients and to treatment response of HCV-infection in HIV/HCV co-infected patients.0.0083387532011IFNL3;IFNL41939248147CT
rs1799945125863003077HFEumls:C0023890BeFreeHFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis.0.0898798642003HFE626090951CG
rs1799945114734643077HFEumls:C1623038BeFreeThe possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed.0.0144300262001HFE626090951CG
rs1799945114734643077HFEumls:C0023890BeFreeThe possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed.0.0898798642001HFE626090951CG
rs1799945125863003077HFEumls:C1623038BeFreeHFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis.0.0144300262003HFE626090951CG
rs1800562125910663077HFEumls:C0023890BeFreeExcept for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis.0.0898798642003HFE626092913GA
rs1800562205832113077HFEumls:C1623038BeFreeMost clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis.0.0144300262010HFE626092913GA
rs1800562206731594353MPOumls:C1623038BeFreeWe assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.0.0031813582011HFE626092913GA
rs1800562206731593077HFEumls:C0023890BeFreeWe assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.0.0898798642011HFE626092913GA
rs1800562239905223077HFEumls:C0023890BeFreeRESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.0.0898798642015HFE626092913GA
rs1800562145578593077HFEumls:C1623038BeFreeIn HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or cirrhosis (F2-F4).0.0144300262003HFE626092913GA
rs1800562177106733077HFEumls:C0023890GAD[A small but significant number of Norwegian male C282Y homozygotes will contract liver cirrhosis if their hemochromatosis is not diagnosed and treated in time.]0.0898798642007HFE626092913GA
rs1800562129572983077HFEumls:C1623038BeFreeOther recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic viral hepatitis and that patients with chronic hepatitis C harboring especially the C282Y mutation are more likely to suffer from advanced hepatic fibrosis or cirrhosis and to do so at younger ages.0.0144300262003HFE626092913GA
rs1800562199304183077HFEumls:C0023890BeFreeHereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis.0.0898798642010HFE626092913GA
rs1800562111684383077HFEumls:C0023890BeFreeThe results indicate that HH patients with the HFE C282Y mutation and low numbers of CD8+ cells in the liver lobuli have higher iron stores and are more prone to develop liver cirrhosis.0.0898798642001HFE626092913GA
rs1800562109809243077HFEumls:C0023890BeFreeIt is less well established that the prevalence of the HFE mutations is increased in alcoholic liver disease and in chronic viral hepatitis, but in both conditions, patients harboring one of these mutations, especially C282Y, are more likely to have advanced hepatic fibrosis or cirrhosis.0.0898798641999HFE626092913GA
rs1800562187053223077HFEumls:C0023890GAD[The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the different HFE gene mutations.]0.0898798642008HFE626092913GA
rs1800562245562163077HFEumls:C0023890BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0898798642015HFE626092913GA
rs1800562205832113077HFEumls:C0023890BeFreeMost clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis.0.0898798642010HFE626092913GA
rs1800562109809243077HFEumls:C1623038BeFreeIt is less well established that the prevalence of the HFE mutations is increased in alcoholic liver disease and in chronic viral hepatitis, but in both conditions, patients harboring one of these mutations, especially C282Y, are more likely to have advanced hepatic fibrosis or cirrhosis.0.0144300261999HFE626092913GA
rs1800562222659173077HFEumls:C1623038BeFreeIn hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis.0.0144300262012HFE626092913GA
rs1800562129572983077HFEumls:C0023890BeFreeOther recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic viral hepatitis and that patients with chronic hepatitis C harboring especially the C282Y mutation are more likely to suffer from advanced hepatic fibrosis or cirrhosis and to do so at younger ages.0.0898798642003HFE626092913GA
rs1800562245562163077HFEumls:C1623038BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0144300262015HFE626092913GA
rs1800562125910663077HFEumls:C1623038BeFreeExcept for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis.0.0144300262003HFE626092913GA
rs1800562201906843077HFEumls:C0023890GAD[Iron overload was frequently detected in patients with CHC, and was associated only with C282Y alleles. Biochemical markers of iron overload and HFE gene mutations were negative prognostic factors of antiviral treatment.]0.0898798642010HFE626092913GA
rs1800562145578593077HFEumls:C0023890BeFreeIn HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or cirrhosis (F2-F4).0.0898798642003HFE626092913GA
rs1800562222659173077HFEumls:C0023890BeFreeIn hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis.0.0898798642012HFE626092913GA
rs1800562121098593077HFEumls:C0023890BeFreeHeavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.0.0898798642002HFE626092913GA
rs1800562206731593077HFEumls:C1623038BeFreeWe assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.0.0144300262011HFE626092913GA
rs1800562206731594353MPOumls:C0023890BeFreeWe assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.0.0008143262011HFE626092913GA
rs1800562125863003077HFEumls:C0023890BeFreeHFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis.0.0898798642003HFE626092913GA
rs1800562245562167036TFR2umls:C0023890BeFreeGenetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS and liver fibrosis (PNPLA3) in recent meta-analysis were analyzed for association with either liver cirrhosis or advanced fibrosis in 148 German HFE C282Y homozygotes.0.0005428842015HFE626092913GA
rs1800562121098593077HFEumls:C1623038BeFreeHeavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation.0.0144300262002HFE626092913GA
rs1800562208148963077HFEumls:C1623038BeFreePatients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks).0.0144300262010HFE626092913GA
rs1800562245562169159PCSK7umls:C1623038BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0002714422015HFE626092913GA
rs1800562208148963077HFEumls:C0023890BeFreePatients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks).0.0898798642010HFE626092913GA
rs1800562125863003077HFEumls:C1623038BeFreeHFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis.0.0144300262003HFE626092913GA
rs1800562239905223077HFEumls:C1623038BeFreeRESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.0.0144300262015HFE626092913GA
rs2070874252955913565IL4umls:C0023890BeFreeIL-4 -590C/T and -33C/T polymorphisms were examined in 154 patients with HBV-related HCC, 62 patients with HBV-induced liver cirrhosis (LC), 129 patients with chronic hepatitis B (CHB), and 94 healthy controls, using the polymerase chain reaction-restriction fragment length polymorphism method and DNA sequencing.0.005548392014IL45132674018CT
rs236918245562163077HFEumls:C1623038BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0144300262015PCSK711117220893GC
rs236918245562163077HFEumls:C0023890BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0898798642015PCSK711117220893GC
rs236918245562169159PCSK7umls:C1623038BeFreePCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.0.0002714422015PCSK711117220893GC
rs25487240184917515XRCC1umls:C0023890BeFreeThe X-ray repair cross complementing protein 1 (XRCC1) rs25487 polymorphism and susceptibility to cirrhosis in Brazilian patients with chronic viral hepatitis.0.0005428842014XRCC11943551574TC
rs28934571226754887157TP53umls:C0023890BeFreeAflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: association with tumors developing in the absence of liver cirrhosis.0.0120729262012TP53177674216CA
rs3135363233213203118HLA-DQA2umls:C0023890BeFreeMultiple logistic regression analysis revealed that rs3135363, rs910049, and HLA-DQA1(*)0601 were independently associated with the risk of HCV-induced LC.0.0005428842012NA632421871AG
rs3430642070800557057TBX20umls:C0023890GAD[A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.]0.0023670322010NA735515178CT
rs3732378180786801524CX3CR1umls:C0023890GAD[The results identify the fractalkine receptor CX3CR1 as susceptibility a gene for hepatic fibrosis in HCV infection.]0.0050913822008CX3CR1339265671GA
rs3775290260245927098TLR3umls:C0023890BeFreeAssociation analysis showed that the TT genotype of TLR3 rs3775290 was associated with a decreased risk for CHB, HBV-related LC, and HCC (OR=0.52, 95% CI: 0.27-0.99, P=0.048; OR=0.32, 95% CI: 0.14-0.76, P=0.010; OR=0.49, 95% CI: 0.26-0.92, P=0.027).0.0008143262015TLR34186083063CT,A
rs386586050218392397098TLR3umls:C0023890BeFreeToll-like receptor 3 L412F polymorphism may protect against acute graft rejection in adult patients undergoing liver transplantation for hepatitis C-related cirrhosis.0.0008143262011NANANANANA
rs4074221731517097TLR2umls:C1623038BeFreeThe CXCL1 rs4074 A allele is associated with enhanced CXCL1 responses to TLR2 ligands and predisposes to cirrhosis in HCV genotype 1-infected Caucasian patients.0.0013572092012CXCL1473870427AG
rs4074221731512919CXCL1umls:C1623038BeFreeThe CXCL1 rs4074 A allele is associated with enhanced CXCL1 responses to TLR2 ligands and predisposes to cirrhosis in HCV genotype 1-infected Caucasian patients.0.0005428842012CXCL1473870427AG
rs4074221731512919CXCL1umls:C0023890BeFreeThe CXCL1 rs4074 A allele is associated with enhanced CXCL1 responses to TLR2 ligands and predisposes to cirrhosis in HCV genotype 1-infected Caucasian patients.0.0005428842012CXCL1473870427AG
rs4074242604932919CXCL1umls:C1623038BeFreeAccordingly, the frequency of the CXCL1 rs4074 A allele was significantly higher in the cirrhotic patients than in the subjects without cirrhosis (41.4% vs. 33.9%, OR=1.38, 95% CI:1.14-1.66, p=0.001).0.0005428842013CXCL1473870427AG
rs4074221731517097TLR2umls:C0023890BeFreeThe CXCL1 rs4074 A allele is associated with enhanced CXCL1 responses to TLR2 ligands and predisposes to cirrhosis in HCV genotype 1-infected Caucasian patients.0.0019000932012CXCL1473870427AG
rs4074242604932919CXCL1umls:C0023890BeFreeAccordingly, the frequency of the CXCL1 rs4074 A allele was significantly higher in the cirrhotic patients than in the subjects without cirrhosis (41.4% vs. 33.9%, OR=1.38, 95% CI:1.14-1.66, p=0.001).0.0005428842013CXCL1473870427AG
rs430397217793633309HSPA5umls:C1623038BeFreeOur previous study indicated that a common variant (rs430397 G>A) in the intron 5 of glucose-regulated protein 78 (GRP78) gene was associated with risk and prognosis of primary hepatocellular carcinoma (HCC), including HBV- and cirrhosis-related HCC.0.0002714422011HSPA59125238840CT
rs44449032550407880339PNPLA3umls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0054288372014EGF4109912954AG
rs4444903221229131950EGFumls:C1623038BeFreeThe epidermal growth factor (EGF) rs4444903 A>G polymorphism has been associated with the development of liver cancer, which commonly complicates cirrhosis of viral origin; however, whether this polymorphism might be associated with fibrosis progression in chronic viral hepatitis is unknown.0.0019000932012EGF4109912954AG
rs4444903255040781950EGFumls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0072629172014EGF4109912954AG
rs4444903221229131950EGFumls:C0023890BeFreeThe epidermal growth factor (EGF) rs4444903 A>G polymorphism has been associated with the development of liver cancer, which commonly complicates cirrhosis of viral origin; however, whether this polymorphism might be associated with fibrosis progression in chronic viral hepatitis is unknown.0.0072629172012EGF4109912954AG
rs4444903255040781950EGFumls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0019000932014EGF4109912954AG
rs44449032550407880339PNPLA3umls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0080673112014EGF4109912954AG
rs4444903222360061950EGFumls:C1623038BeFreeIn conclusion, the EGF rs4444903 A > G polymorphism appears to be associated with an unfavourable disease course of chronic HBV infection and cirrhosis development.0.0019000932012EGF4109912954AG
rs4444903222360061950EGFumls:C0023890BeFreeIn conclusion, the EGF rs4444903 A > G polymorphism appears to be associated with an unfavourable disease course of chronic HBV infection and cirrhosis development.0.0072629172012EGF4109912954AG
rs4898235636287077TIMP2umls:C0023890BeFreeWe used PCR to analyze 188 patients with HCV-related liver disease (95 with chronic hepatitis and 93 with cirrhosis) for TIMP-1 372 T/C and TIMP-2 -418 G/C polymorphisms.0.0029099162012SYN1;TIMP1;MIR4769X47585586TC
rs4986790186667127099TLR4umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0024429772008TLR49117713024AG
rs4986790186667127099TLR4umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0100869572008TLR49117713024AG
rs498679018666712929CD14umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.1266341572008TLR49117713024AG
rs4986790186667124695NDUFA2umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0008143262008TLR49117713024AG
rs498679018666712929CD14umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0031813582008TLR49117713024AG
rs4986790186667124695NDUFA2umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0019000932008TLR49117713024AG
rs4986791186667127099TLR4umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0024429772008TLR49117713324CT
rs4986791186667124695NDUFA2umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0008143262008TLR49117713324CT
rs498679118666712929CD14umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.1266341572008TLR49117713324CT
rs498679118666712929CD14umls:C1623038BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0031813582008TLR49117713324CT
rs4986791186667124695NDUFA2umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0019000932008TLR49117713324CT
rs4986791186667127099TLR4umls:C0023890BeFreeThe present study aimed to investigate the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphisms (base pair -159 and -260) with HBV-related cirrhosis in Chinese Han patients.0.0100869572008TLR49117713324CT
rs7080536191052103026HABP2umls:C0023890BeFreeThe G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.0.0026384742009HABP210113588287GA
rs7080536191052103026HABP2umls:C1623038BeFreeThe G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.0.0002714422009HABP210113588287GA
rs7384092550407880339PNPLA3umls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0080673112014PNPLA32243928847CG
rs7384092537865680339PNPLA3umls:C0023890BeFreeThe rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.0.0080673112015PNPLA32243928847CG
rs738409228632645743PTGS2umls:C0023890BeFreeThe -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance.0.0013572092012PNPLA32243928847CG
rs7384092271919080339PNPLA3umls:C1623038BeFreeThe association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis.0.0054288372012PNPLA32243928847CG
rs7384092411480980339PNPLA3umls:C0023890BeFreeOverall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development.0.0080673112013PNPLA32243928847CG
rs7384092497890380339PNPLA3umls:C1623038BeFreeFurthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis.0.0054288372014PNPLA32243928847CG
rs7384092286326480339PNPLA3umls:C0023890BeFreeThe -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance.0.0080673112012PNPLA32243928847CG
rs7384092497890380339PNPLA3umls:C0023890BeFreeFurthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis.0.0080673112014PNPLA32243928847CG
rs7384092306947680339PNPLA3umls:C0023890BeFreePNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis.0.0080673112013PNPLA32243928847CG
rs738409255040781950EGFumls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0019000932014PNPLA32243928847CG
rs7384092208724880339PNPLA3umls:C0023890BeFreeThe PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis.0.0080673112011PNPLA32243928847CG
rs7384092174528680339PNPLA3umls:C1623038BeFreePNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence.0.0054288372011PNPLA32243928847CG
rs7384092174528680339PNPLA3umls:C0023890BeFreePNPLA3 rs738409C/G polymorphism in cirrhosis: relationship with the aetiology of liver disease and hepatocellular carcinoma occurrence.0.0080673112011PNPLA32243928847CG
rs7384092286326480339PNPLA3umls:C1623038BeFreeThe -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance.0.0054288372012PNPLA32243928847CG
rs738409228632645743PTGS2umls:C1623038BeFreeThe -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance.0.0010857672012PNPLA32243928847CG
rs7384092131919580339PNPLA3umls:C1623038BeFreeThe rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated with cirrhosis and other steatosis-related clinical outcomes, such as lack of response to antiviral treatment and possibly HCC.0.0054288372011PNPLA32243928847CG
rs7384092550407880339PNPLA3umls:C1623038BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0054288372014PNPLA32243928847CG
rs7384092537865680339PNPLA3umls:C1623038BeFreeThe rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.0.0054288372015PNPLA32243928847CG
rs738409255040781950EGFumls:C0023890BeFreeSingle nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.0.0072629172014PNPLA32243928847CG
rs7384092125416480339PNPLA3umls:C1623038BeFreeThe population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%.0.0054288372011PNPLA32243928847CG
rs7384092297841480339PNPLA3umls:C0023890BeFreePrevious studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis.0.0080673112012PNPLA32243928847CG
rs7384092306947680339PNPLA3umls:C1623038BeFreePNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis.0.0054288372013PNPLA32243928847CG
rs7384092297841480339PNPLA3umls:C1623038BeFreePrevious studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis.0.0054288372012PNPLA32243928847CG
rs7384092208724880339PNPLA3umls:C1623038BeFreeThe PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis.0.0054288372011PNPLA32243928847CG
rs7384092434905480339PNPLA3umls:C0023890BeFreeNo correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese patients with HCV.0.0080673112013PNPLA32243928847CG
rs7384092125416480339PNPLA3umls:C0023890BeFreeThe population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%.0.0080673112011PNPLA32243928847CG
rs7384092271919080339PNPLA3umls:C0023890BeFreeThe association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis.0.0080673112012PNPLA32243928847CG
rs7384092131919580339PNPLA3umls:C0023890BeFreeThe rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated with cirrhosis and other steatosis-related clinical outcomes, such as lack of response to antiviral treatment and possibly HCC.0.0080673112011PNPLA32243928847CG
rs7384092411480980339PNPLA3umls:C1623038BeFreeOverall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development.0.0054288372013PNPLA32243928847CG
rs753654022658643406893MIR101-1umls:C0023890BeFreeWe find that the rs7536540 polymorphism in miR-101-1 is significantly associated with development of liver cirrhosis and hepatocellular carcinoma occurrence.0.0002714422012MIR101-1;MIR3671165058899CG
rs76921725837767847CATumls:C0023890BeFreeOur findings suggest that the CAT rs769217 T allele is associated with increased risk of CHB, HBV-LC, and HBV-HCC in Guangxi population.0.0002714422015CAT1134461361CT
rs809991724117654282617IFNL3umls:C1623038BeFreeMultivariable analysis identified four independent factors that were significantly associated with SVR: IL28B SNP rs8099917 genotype (P = 6.90 × 10(-5) ), pre-existence of cirrhosis (P = 3.99 × 10(-3) ), prior treatment response (P = 0.0126), and rapid virological response (P = 0.0239).0.0051573962013NA1939252525TG
rs809991724117654282617IFNL3umls:C0023890BeFreeMultivariable analysis identified four independent factors that were significantly associated with SVR: IL28B SNP rs8099917 genotype (P = 6.90 × 10(-5) ), pre-existence of cirrhosis (P = 3.99 × 10(-3) ), prior treatment response (P = 0.0126), and rapid virological response (P = 0.0239).0.0083387532013NA1939252525TG
rs910049233213203118HLA-DQA2umls:C0023890BeFreeMultiple logistic regression analysis revealed that rs3135363, rs910049, and HLA-DQA1(*)0601 were independently associated with the risk of HCV-induced LC.0.0005428842012C6orf10;LOC101929163632347950TC
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:37)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0023890acetaminophenD000082103-90-2liver cirrhosisMESH:D008103marker/mechanism9183313
C0023890acitretinD01725555079-83-9liver cirrhosisMESH:D008103marker/mechanism11922592
C0023890s-adenosylmethionineD01243629908-03-0liver cirrhosisMESH:D008103therapeutic8878782
C0023890cholineD00279462-49-7liver cirrhosisMESH:D008103marker/mechanism17825453
C0023890colchicineD00307864-86-8liver cirrhosisMESH:D008103therapeutic23146695
C0023890cyclophosphamideD00352050-18-0liver cirrhosisMESH:D008103marker/mechanism17786148
C0023890diclofenacD00400815307-86-5liver cirrhosisMESH:D008103marker/mechanism1582111
C0023890diethylstilbestrolD00405456-53-1liver cirrhosisMESH:D008103marker/mechanism12890826
C0023890diltiazemD00411042399-41-7liver cirrhosisMESH:D008103therapeutic27095094
C0023890enalaprilD00465675847-73-3liver cirrhosisMESH:D008103therapeutic18765277
C0023890epirubicinD01525156420-45-2liver cirrhosisMESH:D008103marker/mechanism22712078
C0023890floxuridineD00546750-91-9liver cirrhosisMESH:D008103marker/mechanism2877311
C0023890fluorouracilD00547251-21-8liver cirrhosisMESH:D008103marker/mechanism12909244
C0023890glatiramer acetateD000068717-liver cirrhosisMESH:D008103therapeutic17038628
C0023890griseofulvinD006118126-07-8liver cirrhosisMESH:D008103marker/mechanism12735108
C0023890imatinib mesylateD000068877-liver cirrhosisMESH:D008103therapeutic21316382
C0023890lanreotideC060347118992-92-0liver cirrhosisMESH:D008103therapeutic19874807
C0023890lovastatinD00814875330-75-5liver cirrhosisMESH:D008103therapeutic22712078
C0023890methotrexateD0087271959/5/2liver cirrhosisMESH:D008103marker/mechanism11083289
C0023890methotrexateD0087271959/5/2liver cirrhosisMESH:D008103therapeutic4853200
C0023890nimodipineD00955366085-59-4liver cirrhosisMESH:D008103therapeutic27095094
C0023890nizatidineD01656776963-41-2liver cirrhosisMESH:D008103marker/mechanism7769203
C0023890octreotideD01528283150-76-9liver cirrhosisMESH:D008103therapeutic25338529
C0023890peginterferon alfa-2aC100416-liver cirrhosisMESH:D008103marker/mechanism21307632
C0023890peginterferon alfa-2bC417083-liver cirrhosisMESH:D008103therapeutic16169782
C0023890propranololD011433525-66-6liver cirrhosisMESH:D008103therapeutic11871761
C0023890ribavirinD01225436791-04-5liver cirrhosisMESH:D008103marker/mechanism15778976
C0023890ribavirinD01225436791-04-5liver cirrhosisMESH:D008103therapeutic16169782
C0023890ritonavirD019438-liver cirrhosisMESH:D008103marker/mechanism9786823
C0023890rosiglitazoneC089730-liver cirrhosisMESH:D008103therapeutic18473419
C0023890sirolimusD02012353123-88-9liver cirrhosisMESH:D008103therapeutic20511674
C0023890spironolactoneD0131481952/1/7liver cirrhosisMESH:D008103therapeutic25204689
C0023890streptozocinD01331118883-66-4liver cirrhosisMESH:D008103marker/mechanism26286521
C0023890thalidomideD01379250-35-1liver cirrhosisMESH:D008103therapeutic16943688
C0023890troglitazoneC05769397322-87-7liver cirrhosisMESH:D008103marker/mechanism11281188
C0023890vitamin aD01480111103-57-4liver cirrhosisMESH:D008103marker/mechanism10750659
C0023890vitamin aD01480111103-57-4liver cirrhosisMESH:D008103therapeutic16256175
FDA approved drug and dosage information(Total Drugs:15)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D008103mevacorlovastatin10MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasonsTABLET;ORALDiscontinuedNoneYesNo
MESH:D008103axidnizatidine150MGCAPSULE;ORALDiscontinuedNoneNoNo
MESH:D008103axidnizatidine15MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasonsSOLUTION;ORALDiscontinuedNoneYesNo
MESH:D008103rapamunesirolimus1MG/MLSOLUTION;ORALPrescriptionNoneYesYes
MESH:D008103rapamunesirolimus1MGTABLET;ORALPrescriptionABYesNo
MESH:D008103norvirritonavir80MG/MLSOLUTION;ORALPrescriptionNoneYesYes
MESH:D008103norvirritonavir100MGCAPSULE;ORALDiscontinuedNoneNoNo
MESH:D008103norvirritonavir100MGCAPSULE;ORALPrescriptionNoneYesYes
MESH:D008103norvirritonavir100MGTABLET;ORALPrescriptionABYesYes
MESH:D008103gleevecimatinib mesylateEQ 50MG BASE Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasonsCAPSULE;ORALDiscontinuedNoneYesNo
MESH:D008103gleevecimatinib mesylateEQ 100MG BASETABLET;ORALPrescriptionABYesNo
MESH:D008103ofirmevacetaminophen1GM/100ML (10MG/ML)SOLUTION;IV (INFUSION)PrescriptionAPYesYes
MESH:D008103ofirmevacetaminophen1GM/100ML (10MG/ML)SOLUTION;IV (INFUSION)PrescriptionAPYesYes
MESH:D008103acetaminophenacetaminophen650MGSUPPOSITORY;RECTALOver-the-counterNoneYesYes
MESH:D008103acetaminophenacetaminophen650MGSUPPOSITORY;RECTALOver-the-counterNoneYesYes
FDA labeling changes(Total Drugs:15)
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:D00810302/14/2002mevacorlovastatinHeterozygous Familial HypercholesterolemiaNew indication in adolescent boys and girls (at least one year post-menarche) 10-17 years of ageLabelingB---Merck07/17/2001FALSE'
MESH:D00810305/25/2004axidnizatidineEsophagitis, and heartburn due to GERDIndicated in pediatric patients 12 years and older Information on dose, PK parameters, and AE profileLabelingB---Reliant Pharms-FALSE'
MESH:D00810305/25/2004axidnizatidineEsophagitis, and heartburn due to GERDIndicated in pediatric patients 12 years and older Information on dose, PK parameters, and AE profileLabelingB---Reliant Pharms-FALSE'
MESH:D00810311/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'
MESH:D00810311/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'
MESH:D0081036/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0081036/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0081036/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0081036/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D00810309/27/2006gleevecimatinib mesylateTreatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phaseExtended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patientsLabeling--B, P-Novartis9/6/2006FALSE'
MESH:D00810309/27/2006gleevecimatinib mesylateTreatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phaseExtended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patientsLabeling--B, P-Novartis9/6/2006FALSE'
MESH:D0081032/11/2010ofirmevacetaminophenManagement of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of feverThe safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administrationLabeling-P--Cadence-FALSE'
MESH:D00810301/27/2017ofirmevacetaminophenTreatmeny of pain and fever in pediatric patients birth to 2 yearsTreatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study.Labeling--B,P-Mallinckrodt11/7/2016FALSE
MESH:D0081032/11/2010ofirmevacetaminophenManagement of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of feverThe safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administrationLabeling-P--Cadence-FALSE'
MESH:D00810301/27/2017ofirmevacetaminophenTreatmeny of pain and fever in pediatric patients birth to 2 yearsTreatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study.Labeling--B,P-Mallinckrodt11/7/2016FALSE