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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hypertriglyceridemia
  

Disease ID 1894
Disease hypertriglyceridemia
Definition
A condition of elevated levels of TRIGLYCERIDES in the blood.
Synonym
elevated triglycerides
high triglycerides
hyperglyceridaemia
hyperglyceridemia
hypertriglyceridaemia
hypertriglyceridemia (disorder)
hypertriglyceridemia [disease/finding]
hypertriglyceridemias
increased triglycerides
raised triglycerides
UMLS
C0020557
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:71)
C0948265  |  metabolic syndrome  |  37
C0030305  |  pancreatitis  |  31
C0011847  |  diabetes  |  21
C0001339  |  acute pancreatitis  |  20
C0028754  |  obesity  |  17
C0011860  |  type 2 diabetes  |  12
C0011849  |  diabetes mellitus  |  7
C0011860  |  type 2 diabetes mellitus  |  6
C0020443  |  hypercholesterolemia  |  5
C0020538  |  hypertension  |  5
C0011880  |  diabetic ketoacidosis  |  5
C0007222  |  cardiovascular disease  |  4
C0020459  |  hyperinsulinemia  |  4
C0042373  |  vascular disease  |  4
C0020456  |  hyperglycemia  |  4
C0018099  |  gout  |  3
C0023787  |  lipodystrophy  |  3
C0004153  |  atherosclerosis  |  3
C0740394  |  hyperuricemia  |  3
C0022661  |  end-stage renal disease  |  2
C0020456  |  hyperglycaemia  |  2
C0030312  |  pancytopenia  |  2
C0159069  |  impaired glucose tolerance  |  2
C0027726  |  nephrotic syndrome  |  2
C0022661  |  chronic kidney disease  |  2
C0022658  |  kidney disease  |  2
C0027051  |  myocardial infarct  |  2
C0028754  |  adiposity  |  2
C0027051  |  myocardial infarction  |  2
C0042373  |  vascular diseases  |  1
C0013295  |  duodenal ulcer  |  1
C0442874  |  neuropathy  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0035078  |  renal failure  |  1
C0022658  |  renal disease  |  1
C0018799  |  heart disease  |  1
C0221032  |  generalized lipodystrophy  |  1
C0018995  |  hemochromatosis  |  1
C0006142  |  breast cancer  |  1
C0740394  |  hyperuricaemia  |  1
C0022104  |  irritable bowel  |  1
C0023418  |  leukaemia  |  1
C0149521  |  recurrent pancreatitis  |  1
C0022661  |  chronic renal failure  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0023418  |  leukemia  |  1
C0023817  |  lipoprotein lipase deficiency  |  1
C0878544  |  cardiomyopathy  |  1
C0033687  |  proteinuria  |  1
C0023449  |  acute lymphoblastic leukaemia  |  1
C0010068  |  coronary artery disease  |  1
C0039730  |  thalassemia  |  1
C0033860  |  psoriasis  |  1
C0013537  |  eclampsia  |  1
C0040034  |  thrombocytopenia  |  1
C0029456  |  osteoporosis  |  1
C0271650  |  glucose intolerance  |  1
C0221032  |  congenital lipodystrophy  |  1
C0221032  |  congenital generalized lipodystrophy  |  1
C0018799  |  heart diseases  |  1
C0023364  |  leptospirosis  |  1
C1561644  |  chronic kidney disease (ckd)  |  1
C0010068  |  coronary heart disease  |  1
C0020443  |  hypercholesterolaemia  |  1
C0271650  |  prediabetes  |  1
C0259749  |  autonomic neuropathy  |  1
C0541760  |  liver adenoma  |  1
C0003972  |  atherosclerotic cardiovascular disease  |  1
C0086543  |  cataract  |  1
C0022104  |  irritable bowel syndrome  |  1
C0007222  |  cardiovascular diseases  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:14)
338  |  APOB  |  CTD_human
3630  |  INS  |  CTD_human
3440  |  IFNA2  |  CTD_human
1401  |  CRP  |  CTD_human
590  |  BCHE  |  CTD_human
116519  |  APOA5  |  CTD_human
8882  |  ZPR1  |  GWASCAT
4023  |  LPL  |  CTD_human
5465  |  PPARA  |  CTD_human
1071  |  CETP  |  CTD_human
64788  |  LMF1  |  CTD_human
2646  |  GCKR  |  CTD_human;GWASCAT
85019  |  TMEM241  |  GWASCAT
5360  |  PLTP  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:32)
38  |  ACAT1  |  CIPHER
154  |  ADRB2  |  CIPHER
27329  |  ANGPTL3  |  CIPHER
335  |  APOA1  |  CIPHER
336  |  APOA2  |  CIPHER
337  |  APOA4  |  CIPHER
116519  |  APOA5  |  CIPHER;CTD_human
338  |  APOB  |  CIPHER;CTD_human
345  |  APOC3  |  CIPHER
348  |  APOE  |  CIPHER
8542  |  APOL1  |  CIPHER
9031  |  BAZ1B  |  CIPHER
1071  |  CETP  |  CIPHER;CTD_human
1581  |  CYP7A1  |  CIPHER
5167  |  ENPP1  |  CIPHER
2169  |  FABP2  |  CIPHER
2590  |  GALNT2  |  CIPHER
2646  |  GCKR  |  CIPHER;CTD_human
9388  |  LIPG  |  CIPHER
4023  |  LPL  |  CIPHER;CTD_human
51085  |  MLXIPL  |  CIPHER
5465  |  PPARA  |  CIPHER;CTD_human
5468  |  PPARG  |  CIPHER
6101  |  RP1  |  CIPHER
26608  |  TBL2  |  CIPHER
10221  |  TRIB1  |  CIPHER
590  |  BCHE  |  CTD_human
1401  |  CRP  |  CTD_human
64788  |  LMF1  |  CTD_human
3630  |  INS  |  CTD_human
5360  |  PLTP  |  CTD_human
3440  |  IFNA2  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1894
Disease hypertriglyceridemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:69)
HP:0001733  |  Pancreatic inflammation  |  34
HP:0001735  |  Acute pancreatitis  |  19
HP:0000855  |  Insulin resistance  |  19
HP:0001513  |  Obesity  |  18
HP:0000819  |  Diabetes mellitus  |  7
HP:0012743  |  Central obesity  |  7
HP:0003124  |  Elevated serum cholesterol  |  6
HP:0001397  |  Hepatic steatosis  |  5
HP:0001953  |  Diabetic ketosis  |  5
HP:0003074  |  High blood glucose  |  5
HP:0000822  |  Hypertension  |  5
HP:0002149  |  Hyperuricemia  |  4
HP:0000842  |  Elevated insulin level  |  4
HP:0002621  |  Atherosclerosis  |  4
HP:0003233  |  Low HDL-cholesterol  |  4
HP:0001993  |  Ketoacidosis  |  3
HP:0001997  |  Gout  |  3
HP:0001945  |  Fever  |  3
HP:0003774  |  End-stage renal failure  |  3
HP:0001013  |  Eruptive xanthomas  |  3
HP:0000833  |  Glucose intolerance  |  3
HP:0009125  |  Lipodystrophy  |  3
HP:0001297  |  Cerebral vascular events  |  2
HP:0000100  |  Nephrosis  |  2
HP:0010980  |  Hyperlipoproteinemia  |  2
HP:0003077  |  Hyperlipidemia  |  2
HP:0002027  |  Abdominal pain  |  2
HP:0012622  |  Chronic kidney disease  |  2
HP:0001658  |  Myocardial infarction  |  2
HP:0001433  |  Enlarged liver and spleen  |  2
HP:0001876  |  Low blood cell count  |  2
HP:0002155  |  Increased triglycerides  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0002588  |  Duodenal ulcer  |  1
HP:0001909  |  Leukemia  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0000159  |  Lip abnormality  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0001744  |  Splenomegaly  |  1
HP:0003146  |  Decreased circulating cholesterol level  |  1
HP:0100578  |  Lipoatrophy  |  1
HP:0001873  |  Low platelet count  |  1
HP:0002910  |  Elevated transaminases  |  1
HP:0002917  |  Low blood magnesium levels  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0000518  |  Cataract  |  1
HP:0002634  |  Arteriosclerosis  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0000093  |  Proteinuria  |  1
HP:0003765  |  Psoriasis  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0040216  |  Hypoinsulinemia  |  1
HP:0100027  |  Recurring pancreatitis  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0001414  |  Microvesicular hepatic steatosis  |  1
HP:0100033  |  Tic disorder  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0002020  |  Heartburn  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0009064  |  Generalized lipodystrophy  |  1
HP:0100601  |  Eclampsia  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0000716  |  Depression  |  1
HP:0009059  |  Congenital generalized lipodystrophy  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0100602  |  Pre-eclampsia  |  1
Disease ID 1894
Disease hypertriglyceridemia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:10)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1260326235053232646GCKRumls:C0020557GWASCATGenomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.0.2494681282013GCKR227508073TC
rs1260326206575962646GCKRumls:C0020557GAD[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.]0.2494681282010GCKR227508073TC
rs1260326206575962646GCKRumls:C0020557GWASCATExcess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.0.2494681282010GCKR227508073TC
rs463555420657596338APOBumls:C0020557GAD[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.]0.1294681282010NA221166787TG
rs7016880206575964023LPLumls:C0020557GAD[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.]0.2711451552010NA820019235GC
rs714052206575969031BAZ1Bumls:C0020557GAD[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.]0.0023670322010BAZ1B773450539AG
rs964184206575968882ZPR1umls:C0020557GWASCATExcess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.0.1223670322010ZPR111116778201GC
rs964184206575968882ZPR1umls:C0020557GAD[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.]0.1223670322010ZPR111116778201GC
rs964184235053238882ZPR1umls:C0020557GWASCATGenomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.0.1223670322013ZPR111116778201GC
rs99496172350532385019TMEM241umls:C0020557GWASCATGenomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.0.122013TMEM2411823299253CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1894
Disease hypertriglyceridemia
Case(Waiting for update.)