MCID: HYP117
MIFTS: 54

Hypertriglyceridemia malady

Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Hypertriglyceridemia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hypertriglyceridemia denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant... more...

MalaCards: Hypertriglyceridemia, also known as hyperlipoproteinemia type 4, is related to pancreatitis and familial hypertriglyceridemia. An important gene associated with Hypertriglyceridemia is APOA5 (apolipoprotein A-V), and among its related pathways are Metabolism and Statin Pathway, Pharmacodynamics. The compounds lipid and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

Description from OMIM:46 144600,145750

Aliases & Classifications for Hypertriglyceridemia

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46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Genetic diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
hyperlipoproteinemia type 4:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

hypertriglyceridemia 46 44
hyperlipoproteinemia type 4 48 46
familial hypertriglyceridemia 48


External Ids:

MESH via Orphanet35 D006953
ICD10 via Orphanet26 E78.1
SNOMED-CT via Orphanet57 238085009, 267433009, 34528009
UMLS via Orphanet61 C0020480

Related Diseases for Hypertriglyceridemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hypertriglyceridemia family:

Familial Hypertriglyceridemia

Diseases related to Hypertriglyceridemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.1LPL, APOC2
2familial hypertriglyceridemia31.1APOC2, APOA2, APOC3, APOA5, APOE, APOA1
3acute pancreatitis30.9LPL, APOC2
4obesity30.9CETP, LDLR, APOA1, APOA2, APOB, LPA
5hepatitis30.7LDLR
6diabetes mellitus30.6APOC2, APOE, APOA1, APOA5, APOA2, APOC3
7familial combined hyperlipidemia30.6APOE, APOA1, APOB
8familial hyperlipidemia30.5APOA1, APOE, APOA5, LDLR, CETP, PON1
9atherosclerosis30.4LDLR, CETP, SLC10A2, PON1, LIPC, LPL
10type 2 diabetes mellitus30.3APOC2, APOA2, APOC3, APOE, APOA1, APOB
11hypertension30.3APOA1, APOE, APOB, LPA, LPL
12hyperglycemia30.3APOB, LPA, LIPC, PON1, CETP, LPL
13coronary artery disease30.2LPL, LPA, APOB, APOA2, APOC3, APOA5
14familial lipoprotein lipase deficiency30.2LPL
15hyperlipidemia type 330.1LPL, LPA, APOA1, APOE, APOA5, APOB
16lipodystrophy30.1LPL, APOB, APOC3, LDLR
17hypothyroidism30.1PON1, CETP, APOB, LPA
18glucose intolerance30.1LPL, APOB
19vascular disease29.9LDLR, CETP, PON1, LIPC, LPL, LPA
20familial hypercholesterolemia29.9CETP, APOB, LDLR
21fish-eye disease29.9APOA1, APOA2
22myocardial infarction29.7APOB, LDLR, CETP, PON1, LIPC, LPA
23tangier disease29.7APOB, LPA, LPL, CETP, APOA2, APOA1
24nephrotic syndrome29.7APOA1, APOE, APOB, LPA, LPL, PON1
25uremia29.7LDLR, PON1, LIPC, LPL, LPA, APOC3
26proteinuria29.7APOC2, APOB, APOA2, CETP, APOC3, APOA1
27fatty liver disease29.7APOB, CETP, LIPC, LPL, APOA1, APOC3
28diabetic nephropathy29.7PON1, APOE, LIPC, APOA1, LPA, APOB
29hyperlipoproteinemia type v29.7LPL, APOC2, APOE
30hyperhomocysteinemia29.7APOE, LPA, PON1
31stroke, ischemic29.7APOA1, APOE, APOB, LPA
32polyneuropathy29.7APOA2
33hyperinsulinism29.7LPL, APOB
34hyperuricemia29.7APOB
35acute leukemia10.3
36leukemia10.3
37lymphoblastic leukemia10.2
38hypertriglyceridemia, transient infantile10.2
39diabetic ketoacidosis10.1
40hepatitis a10.1
41coronary heart disease10.0CETP, PON1, LIPC, LPL, LPA, APOB
42hypercholesterolemia10.0APOC2, LPA, LPL, LIPC, PON1, SLC10A2
43insulin resistance10.0PON1, LIPC, LPL, LPA, APOB, APOA2
44hypoalphalipoproteinemia10.0APOA1, APOC3, APOB, LPL, LIPC, CETP
45hyperalphalipoproteinemia10.0APOA1, LDLR, CETP, APOC3, APOA2, APOB
46chronic kidney failure10.0CETP, LPA, LPL, APOC2, LIPC, APOB
47ischemic heart disease10.0LPL, PON1, CETP, LDLR, LPA, APOB
48galactosemia10.0CETP, LDLR, SLC10A2, LIPC, LPA, APOC3
49cadasil10.0LPL, LIPC, LDLR, APOB, CETP, APOE
50cerebrovascular disease10.0APOA1, CETP, APOB, LPL, PON1, LDLR

Graphical network of the top 20 diseases related to Hypertriglyceridemia:



Diseases related to hypertriglyceridemia

Clinical Features for Hypertriglyceridemia

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Sources:
46OMIM
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Clinical features from OMIM:

144600,145750

Clinical synopsis from OMIM:

144600

Drugs & Therapeutics for Hypertriglyceridemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hypertriglyceridemia

Drug clinical trials:

Search ClinicalTrials for Hypertriglyceridemia

Search NIH Clinical Center for Hypertriglyceridemia

Search CenterWatch for Hypertriglyceridemia

Genetic Tests for Hypertriglyceridemia

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Anatomical Context for Hypertriglyceridemia

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32MalaCards
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MalaCards organs/tissues related to Hypertriglyceridemia:

32
Heart, Skin

Animal Models for Hypertriglyceridemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypertriglyceridemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.8LPL, APOC3, APOA2, APOB, APOE, LIPC
2MP:000538510.7RP1, APOA1, APOE, APOC3, APOB, LPL
3MP:000537010.4LDLR, SLC10A2, LIPI, LPL, APOB, APOE

Publications for Hypertriglyceridemia

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Genetic Variations for Hypertriglyceridemia

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Expression for genes affiliated with Hypertriglyceridemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypertriglyceridemia

Search GEO for disease gene expression data for Hypertriglyceridemia.

Pathways for genes affiliated with Hypertriglyceridemia

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Sources:
53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.9LIPC, PON1, APOB, APOA1, APOE, APOA5
2
Hide members
10.8APOA1, LPL, APOE, APOA2, APOC2, APOB
3
Hide members
10.8APOC2, APOA1, APOE, LPA, APOC3, LDLR
410.7APOC3, APOA2, APOE, APOA1, APOB, LPL
5
Hide members
10.7LPL, APOC2, APOE, APOA1, LDLR, APOC3
6
Hide members
10.7APOE, APOC3, APOA2, APOC2, APOB, LPL
7
Hide members
10.7LPIN3, GPD1, APOA2, APOA1, APOA5, LPIN2
810.6LPL, APOA5, APOC3, APOA2, APOA1
910.6LIPC, LPIN3, LPL, LPIN2
1010.6APOA1, APOA2, APOB, LPA
1110.6APOB, LPA, CETP, LDLR
12
Hide members
10.6LPIN3, LPIN2, GPD1
13
Hide members
10.6LIPC, GPD1, LPL
14
Hide members
10.6APOA1, APOE, APOB
1510.6APOE, APOA1, APOB
1610.6LDLR, APOA1, APOB
1710.5APOB, APOA1

Compounds for genes affiliated with Hypertriglyceridemia

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Hypertriglyceridemia according to GeneCards/GeneDecks:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1lipid4411.3APOB, APOA2, APOC3, APOA5, APOE, APOA1
2cholesterol44 28 11 2414.3APOA1, APOE, APOA5, APOC3, APOA2, APOC2
3triacylglycerol4411.3APOA5, APOC3, APOA2, APOC2, APOB, LPL
4phospholipid4411.2LPL, LIPC, PON1, CETP, LDLR, APOB
5heparin44 28 11 2414.2APOE, APOA5, APOC3, APOA2, APOC2, APOB
6gemfibrozil44 28 1113.2APOC2, APOA2, APOC3, APOE, APOA1, PON1
7cholesterol ester4411.2PON1, APOA1, LIPC, LPL, LPA, APOB
8atorvastatin44 49 28 11 2415.2PON1, SLC10A2, CETP, LDLR, LIPC, LPL
9fenofibrate44 49 1113.2APOA2, APOB, LPA, LPL, LIPC, PON1
10vitamin a44 11 2413.2APOA1, APOC2, APOE, APOC3, APOB, LPA
11lovastatin44 49 59 28 1115.2LDLR, CETP, PON1, LIPC, LPL, LPA
12fatty acid4411.2GPD1, LIPC, LPL, CETP, LDLR, APOC3
13phosphatidylcholine4411.2APOA1, APOE, APOA2, APOB, LPA, LPL
14bezafibrate44 28 1113.2APOA1, APOE, APOC3, APOA2, APOB, LPA
15pravastatin44 49 28 11 2415.2APOE, APOA1, LDLR, CETP, SLC10A2, PON1
16thyroxine44 2412.1APOA1, LDLR, CETP, LIPC, LPL, LPA
17intralipid4411.1APOE, APOA1, APOC3, APOA2, CETP, LIPC
18probucol44 1112.1CETP, LIPC, LPL, APOB, APOE, APOA1
19estrogen4411.1APOA1, LPL, APOB, APOA2, APOC3, PON1
20testosterone44 59 11 2414.1LIPC, APOA1, APOE, APOC3, APOB, LDLR
21homocysteine44 2412.1PON1, APOB, APOC2, APOE, APOA1, LPA
22mspi4411.1LDLR, CETP, APOA1, APOC3, APOA2, APOB
23simvastatin44 49 59 28 11 2416.1APOA1, APOE, APOB, LPA, LPL, PON1
24cholestyramine4411.1LDLR, CETP, LPA, APOB, APOC3, APOE
25fluvastatin44 49 28 1114.0APOB, PON1, CETP, LDLR, APOA1, APOE
26sele4411.0APOE, APOC3, LPL, CETP, LDLR, PON1
27dimyristoylphosphatidylcholine4411.0APOA5, APOA2, APOE, APOA1, LPA, LDLR
28oleic acid44 28 11 2414.0LPA, LIPC, GPD1, CETP, LDLR, APOB
29niacin44 1112.0LPA, LPL, CETP, LDLR, APOA1, APOB
30glucose4411.0APOA1, APOA5, APOC3, APOA2, APOC2, LPA
31xbai4411.0APOE, APOC3, LPL, LDLR
32sterol4411.0APOA1, APOE, LDLR, CETP, SLC10A2, LIPC
33ciprofibrate44 2812.0PON1, LPL, APOB, LDLR, APOA1
34aspirin44 49 28 2413.9APOB, LPA, PON1, LDLR, APOE, APOA1
35trioleoylglycerol4410.9APOA1, APOC2, LIPC, LPL
36rosuvastatin44 49 28 1113.9APOC3, APOB, CETP, APOA1, LDLR
37sodium dodecylsulfate4410.9LIPC, APOE, LPL, APOC2, LPA, CETP
38taurocholate4410.9SLC10A2, APOA1, LPL, APOB, APOC3
39alpha tocopherol4410.9LPL, LDLR
40rosiglitazone44 49 28 11 2414.8GPD1
41fenofibric acid44 2811.8APOC3, APOB, APOA1, LPL
42dextran sulfate4410.8APOB, APOA1, CETP, LDLR, LPL
43lathosterol44 2411.8CETP, LDLR, APOE, APOB
44palmitate4410.8LDLR, CETP
45carbohydrates4410.7LPL, APOE, APOC3, LIPC, CETP, LDLR
46retinyl palmitate44 2411.7LPL, APOB, APOE, APOA1
47fibrinogen4410.7APOB, LPA, APOA2, APOC3, APOA1, LIPC
48betacarotene4410.6CETP, PON1, LPL, APOB, APOE
497-ketocholesterol44 2411.5APOA1, APOB, PON1, APOE
50vitamin b124410.3APOA1, APOE, APOB, LPA, PON1

GO Terms for genes affiliated with Hypertriglyceridemia

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16Gene Ontology
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Cellular components related to Hypertriglyceridemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:04262710.9APOE, APOA5, APOC3, APOA2, APOC2, LPL
2very-low-density lipoprotein particleGO:03436110.9APOA1, APOE, APOA5, APOC3, APOA2, APOC2
3high-density lipoprotein particleGO:03436410.9APOA2, LIPC, PON1, CETP, APOA5, APOE
4extracellular spaceGO:00561510.9LIPC, APOB, APOC3, APOA5, APOE, APOA1
5spherical high-density lipoprotein particleGO:03436610.8PON1, APOC2, APOA2, APOC3, APOA1
6low-density lipoprotein particleGO:03436210.7APOA5, APOE, APOC2, LDLR, APOB
7intermediate-density lipoprotein particleGO:03436310.6APOE, APOC3, APOC2, APOB
8early endosomeGO:00576910.6APOA1, APOA2, APOC3, APOC2, APOB, LDLR
9endocytic vesicle lumenGO:07168210.6APOB, APOE, APOA1
10extracellular regionGO:00557610.5PON1, LIPI, LPL, LPA, APOC3, APOB

Biological processes related to Hypertriglyceridemia according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428111.4APOE, LPA, LDLR, CETP, SLC10A2, APOB
2lipoprotein metabolic processGO:04215711.3LDLR, CETP, LPL, LPA, APOB, APOC2
3cholesterol homeostasisGO:04263211.2APOA1, APOE, APOA5, LDLR, CETP, LIPC
4phototransduction, visible lightGO:00760311.2RP1, APOA1, APOE, APOC3, APOA2, LPL
5cholesterol metabolic processGO:00820311.2APOA1, APOE, APOC3, APOA2, APOB, LIPC
6retinoid metabolic processGO:00152311.2LDLR, APOA1, APOE, APOC3, APOC2, APOB
7reverse cholesterol transportGO:04369111.1CETP, LIPC, APOC2, APOA1, APOE, APOC3
8triglyceride homeostasisGO:07032811.1CETP, LIPC, LPL, APOC2, APOC3, APOA5
9cholesterol effluxGO:03334411.1APOC2, APOB, APOC3, APOE, APOA1, APOA2
10triglyceride metabolic processGO:00664111.1APOA5, LPL, CETP, APOC3, APOA2, APOE
11high-density lipoprotein particle remodelingGO:03437511.1CETP, LIPC, APOA2, APOC3, APOE, APOA1
12phospholipid effluxGO:03370011.0APOC3, APOE, APOA2, APOC2, APOA1
13very-low-density lipoprotein particle remodelingGO:03437211.0LIPC, LPL, APOC2, APOE, CETP
14triglyceride catabolic processGO:01943311.0LPL, APOA5, LIPC, APOB, APOC3
15low-density lipoprotein particle remodelingGO:03437411.0APOA2, APOB, CETP, APOE, LIPC
16receptor-mediated endocytosisGO:00689811.0APOB, LDLR, LPA, APOE, CETP
17chylomicron remnant clearanceGO:03438211.0APOC2, LIPC, APOC3, APOE
18high-density lipoprotein particle clearanceGO:03438411.0APOC2, APOA2, APOE, APOA1
19cellular lipid metabolic processGO:04425511.0APOA1, APOA5, GPD1, LPIN2, APOA2
20cholesterol transportGO:03030111.0APOA1, LDLR, CETP, APOB
21phosphatidylcholine biosynthetic processGO:00665611.0APOA1, APOA2, LPIN2, LPIN3
22response to drugGO:04249311.0APOC2, LPL, APOA2, APOC3, APOA1
23triglyceride-rich lipoprotein particle remodelingGO:03437011.0APOC2, APOA5, APOA2
24negative regulation of very-low-density lipoprotein particle remodelingGO:01090311.0APOC3, APOA1, APOA2
25regulation of Cdc42 protein signal transductionGO:03248911.0APOC3, APOE, APOA1
26lipoprotein catabolic processGO:04215910.9LDLR, APOE, APOB
27lipoprotein biosynthetic processGO:04215810.9APOA1, APOE, APOB
28high-density lipoprotein particle assemblyGO:03438010.9APOA1, APOA2, APOE
29positive regulation of cholesterol esterificationGO:01087310.9APOA2, APOA1, APOE
30lipoprotein transportGO:04295310.9APOC3, APOC2, APOB
31positive regulation of very-low-density lipoprotein particle remodelingGO:01090210.9APOC2, APOA5
32negative regulation of cholesterol importGO:06062110.9APOA2, APOC3
33phospholipid metabolic processGO:00664410.9GPD1, LPIN3, LPL, LPIN2
34organ regenerationGO:03110010.9APOA1, APOA2, APOA5
35negative regulation of lipase activityGO:06019210.9APOA2, APOA1
36triglyceride biosynthetic processGO:01943210.9LPL, GPD1, LPIN2
37chylomicron remodelingGO:03437110.8LPL, APOC2
38cholesterol importGO:07050810.8APOA1, LDLR
39regulation of intestinal cholesterol absorptionGO:03030010.8APOA1, APOA2
40negative regulation of cholesterol transportGO:03237510.8APOA2, APOC2
41negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.8APOC3, APOC2
42negative regulation of lipid metabolic processGO:04583310.7APOC3, APOC2
43peripheral nervous system axon regenerationGO:01401210.7APOA1, APOE
44protein oxidationGO:01815810.7APOA2, APOA1
45negative regulation of cytokine secretion involved in immune responseGO:00274010.6APOA1, APOA2
46positive regulation of lipid catabolic processGO:05099610.6APOA5, APOA2
47negative regulation of receptor-mediated endocytosisGO:04826110.5APOC2, APOC3
48triglyceride mobilizationGO:00664210.5APOC3, APOB
49lipid transportGO:00686910.5LPA, CETP, APOA5
50peptidyl-methionine modificationGO:01820610.2APOA2, APOA1

Molecular functions related to Hypertriglyceridemia according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00820111.0APOE, APOA5, APOB, LPA, LPL, LIPC
2phospholipid bindingGO:00554311.0APOA1, APOE, APOA5, APOC3, APOA2, APOB
3cholesterol transporter activityGO:01712711.0CETP, APOB, APOA2, APOE, APOA1
4lipase inhibitor activityGO:05510210.9APOA1, APOC3, APOA2, APOC2
5lipid bindingGO:00828910.9APOE, APOA5, APOA2, APOC2, CETP
6cholesterol bindingGO:01548510.9CETP, APOA2, APOC3, APOA1
7high-density lipoprotein particle receptor bindingGO:07065310.9APOA2, APOC3, APOA1
8phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.9APOA1, APOE, APOA2
9phospholipase activityGO:00462010.8LIPI, LIPC, LPL
10phosphatidylcholine bindingGO:03121010.8CETP, APOA2, APOA5
11low-density lipoprotein particle receptor bindingGO:05075010.8APOE, APOA5, APOB
12apolipoprotein bindingGO:03418510.8LPA, LPL, LIPC
13lipid transporter activityGO:00531910.8APOE, APOA2, CETP
14triglyceride bindingGO:01712910.7CETP, LPL
15lipoprotein lipase activator activityGO:06023010.7APOA5, APOC2
16apolipoprotein receptor bindingGO:03419010.7APOA1, APOA2
17phospholipid transporter activityGO:00554810.6CETP, APOA1
18high-density lipoprotein particle bindingGO:00803510.6APOA1, APOA2
19phosphatidate phosphatase activityGO:00819510.5LPIN3, LPIN2
20triglyceride lipase activityGO:00480610.5LIPC, LPL
21protein homodimerization activityGO:04280310.5APOE, APOA2, APOC2, PON1, GPD1
22low-density lipoprotein particle bindingGO:03016910.2LDLR, LIPC

Products for genes affiliated with Hypertriglyceridemia

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  • Antibodies
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  • Antibodies

Sources for Hypertriglyceridemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet