MCID: FML035
MIFTS: 55

Familial Hyperlipidemia malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Familial Hyperlipidemia

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34MalaCards
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MalaCards: Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to hyperlipoproteinemia type v and cholestasis. An important gene associated with Familial Hyperlipidemia is USF1 (upstream transcription factor 1), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and PPAR signaling pathway. The drugs fish oils and coenzyme q10 and the compounds psyllium and fenofibric acid have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are adipose tissue and liver/biliary system.

Aliases & Classifications for Familial Hyperlipidemia

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9Disease Ontology, 11DISEASES, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:

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


Aliases & Descriptions:

familial hyperlipidemia 9 11
familial hyperlipoproteinemia 9 63
hyperlipidemia 63
hyperlipemia 9


External Ids:

Disease Ontology9 DOID:1168

Related Diseases for Familial Hyperlipidemia

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18GeneCards, 19GeneDecks
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Diseases in the Hyperlipidemia Type 3 family:

familial hyperlipidemia

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

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1hyperlipoproteinemia type v30.3LPL, APOC2, APOE
2cholestasis30.0LIPC, CETP, LCAT
3familial combined hyperlipidemia30.0APOE, APOA1, APOB, HMGCR
4familial hypercholesterolemia30.0HMGCR, PCSK9, CETP, LDLR, APOB
5xanthomatosis29.9APOE, APOB, LDLR, LPL
6nephrotic syndrome29.8HMGCR, LCAT, LPL, LPA, CETP, APOB
7hyperlipidemia type 329.6APOA5, APOA1, APOE, APOB, LIPC, LDLR
8diabetes mellitus29.4APOB, APOC2, APOA2, APOA5, APOC3, APOA1
9hypercholesterolemia29.3APOC3, APOA1, APOE, INS, APOA2, APOC2
10hypertriglyceridemia29.3APOA1, APOE, INS, APOC3, APOA5, APOA2
11familial lipoprotein lipase deficiency10.4
12panhypopituitarism10.1
13cerebral atherosclerosis10.1APOA1
14chylomicron retention disease10.1APOB
15hepatic lipase deficiency10.1LIPC
16lipoprotein glomerulopathy10.1APOE
17amyloidosis, renal10.1APOA2, APOA1
18stroke, ischemic10.1COG2, LPA, APOA2
19peripheral vascular disease10.1INS
20sitosterolemia10.1HMGCR
21fish-eye disease10.1APOA1, APOA2, LCAT
22hyperlipoproteinemia type iv10.0
23hyperlipoproteinemia type iii10.0
24hyperlipoproteinemia type 210.0
25hypothyroidism10.0APOB, CETP, LPA
26arcus senilis10.0APOA1, APOB, LCAT
27amyloidosis, secondary10.0APOA1, LPA, LCAT
28alagille syndrome10.0LCAT, LPA, APOA1
29age related macular degeneration10.0APOE, APOB
30stroke, hemorrhagic10.0APOE, HMGCR
31venous thrombosis10.0HMGCR, CETP, APOB
32complete lcat deficiency10.0APOA1, APOA2, LPA, LCAT
33alzheimer disease type 210.0CETP, APOE
34lipase deficiency combined10.0LIPC, LPL
35supravalvular aortic stenosis10.0
36glycogen storage disease10.0
37pyloric stenosis10.0
38pancreatitis, chronic10.0APOC2, APOB, LPL
39hyperthyroidism10.0INS, APOA2, LDLR
40extrahepatic cholestasis10.0
41hyperglobulinemic purpura10.0
42hyperphosphatemia10.0
43shwartzman phenomenon10.0
44lactic acidosis10.0
45myeloma10.0
46purpura10.0
47adrenocortical insufficiency10.0
48endotheliitis10.0
49acute myocardial infarction10.0APOA1, APOB, LPA, LCAT, HMGCR
50hepatoblastoma10.0APOA1, APOA2, APOB, LDLR, HMGCR

Graphical network of the top 20 diseases related to Familial Hyperlipidemia:



Diseases related to familial hyperlipidemia

Symptoms for Familial Hyperlipidemia

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Drugs & Therapeutics for Familial Hyperlipidemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Familial Hyperlipidemia

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Anatomical Context for Familial Hyperlipidemia

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34MalaCards
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MalaCards organs/tissues related to Familial Hyperlipidemia:

34
Heart

Animal Models for Familial Hyperlipidemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Hyperlipidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053757.9LPL, LDLR, APOC3, APOE, INS
2MP:00053706.8INS, APOE, APOA1, APOB, LDLR, LPL
3MP:00053856.6INS, APOE, APOA1, APOC3, APOB, LDLR
4MP:00053765.8PCSK9, INS, APOE, APOA1, APOC3, APOA5

Publications for Familial Hyperlipidemia

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53PubMed
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Articles related to Familial Hyperlipidemia:

(show all 23)
idTitleAuthorsYear
1
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. (24426212)
2013
2
Novel pharmacotherapies of familial hyperlipidemia. (23639874)
2013
3
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. (23896536)
2013
4
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. (22531366)
2013
5
Diffuse involvement of aorta in patient with familial hyperlipidemia. (22347657)
2011
6
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. (21918328)
2011
7
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. (21073119)
2010
8
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. (17097797)
2008
9
Association between physical activity, adiposity, and lipid abnormalities in children with familial hyperlipidemia. (17301628)
2007
10
Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. (15854507)
2005
11
Micro- and macrocirculatory effects of apheresis in patients with familial hyperlipidemia. (12921126)
2003
12
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. (12032266)
2002
13
Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. (9547191)
1997
14
Atypical pyloric stenosis in an infant with familial hyperlipidemia. (8657477)
1996
15
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. (7839978)
1995
16
Adult cardiologists or hyperlipidemia experts have advocated no screening and no treatment for children with familial hyperlipidemia. (8435922)
1993
17
Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. (2375785)
1990
18
Familial hyperlipidemia in stroke in the young. (3810712)
1986
19
Changes of serum total cholesterol and triglyceride levels in normal subjects in Japan in the past twenty years. Research committee on familial hyperlipidemia in Japan. (6655789)
1983
20
Familial hyperlipidemia in coronary atherosclerotic heart disease. (6619068)
1983
21
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. (578151)
1977
22
Glycogen storage disease previously reported as familial hyperlipidemia. (5215216)
1965
23
THIN-LAYER CHROMATOGRAPHIC ANALYSIS OF PLASMA PHOSPHOLIPIDS IN ESSENTIAL FAMILIAL HYPERLIPIDEMIA. (14226394)
1964

Variations for Familial Hyperlipidemia

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Expression for genes affiliated with Familial Hyperlipidemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hyperlipidemia

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for genes affiliated with Familial Hyperlipidemia

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 13EMD Millipore, 52PharmGKB
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Pathways related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0APOA1, APOB, APOE
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
8.9APOA1, APOA5, APOA2, LPL, APOC3
3
Show member pathways
thioredoxin pathway39
8.8APOB, LDLR, APOA1, INS
4
Show member pathways
8.8APOA1, APOA5, HMGCR, APOA2, LPL
5
Show member pathways
Vitamin B12 Metabolism39
8.7INS, APOE, APOA1
68.7APOB, APOA2, APOA1, LPA, INS
7
Show member pathways
8.5LPL, LDLR, INS, HMGCR
8
Show member pathways
7.4APOA1, APOE, APOC3, APOA2, APOC2, APOB
9
Show member pathways
6.8APOC3, APOA2, APOC2, LDLR, LPL, APOA1
106.8APOE, INS, APOB, APOA1, APOC3, APOA2
11
Show member pathways
5.8APOC2, APOB, LIPC, LDLR, CETP, LPA
12
Show member pathways
5.8APOB, CETP, APOC2, LIPC, LDLR, APOA2
13
Show member pathways
4.8APOC3, HMGCR, LCAT, LPL, LPA, CETP

Compounds for genes affiliated with Familial Hyperlipidemia

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show top 50)    (show all 450)
idCompoundScoreTop Affiliating Genes
1psyllium469.1LCAT, CETP, LDLR, HMGCR, APOB
2fenofibric acid46 309.9APOC3, APOA1, HMGCR, LPL, APOB
3colestipol468.9APOB, COG2, HMGCR, APOA1
4mspi468.8APOA1, APOC3, LPA, CETP, LDLR, APOB
5ciprofibrate46 309.6APOA1, APOB, LDLR, LPL, HMGCR
6acipimox46 309.6APOA1, INS, HMGCR, CETP, APOB
7lathosterol46 259.5CETP, LDLR, HMGCR, APOE, APOB
8sele468.4LDLR, APOE, CETP, APOC3, LPL
9dimyristoylphosphatidylcholine468.3LPA, LDLR, APOA2, APOA5, APOA1, APOE
10xbai468.2CETP, APOC3, LDLR, APOE, APOB, LPL
11ezetimibe46 129.0APOA1, INS, APOB, LDLR, CETP, HMGCR
12retinyl palmitate46 259.0APOA1, APOB, APOE, COG2, LPL, LCAT
13sodium dodecylsulfate467.8APOC2, CETP, LIPC, LPA, LPL, APOE
14homocysteine46 258.8LPA, CETP, APOB, APOC2, APOC3, APOA1
15ritonavir46 52 129.7LPL, APOC3, HMGCR, INS, APOE, LDLR
16cholestyramine467.6HMGCR, COG2, LPA, CETP, LDLR, APOB
17alpha tocopherol467.5LCAT, HMGCR, CETP, LDLR, APOB, LPL
18aspirin46 52 30 2510.4COG2, HMGCR, APOE, APOB, LPA, CETP
19fluvastatin46 52 30 1210.3CETP, LDLR, APOB, APOA1, APOE, LPL
20rosiglitazone30 46 52 25 1211.3COG2, INS, LPA, APOC3, APOE, LPL
21niacin46 128.2INS, APOA1, HMGCR, COG2, LPL, LPA
22fibrinogen467.2INS, APOA1, APOC3, APOA2, LIPC, COG2
23probucol46 128.1CETP, LDLR, LIPC, APOB, APOA1, APOE
24carbohydrates467.0CETP, LDLR, LPL, LIPC, APOC3, APOE
25rosuvastatin46 52 30 1210.0COG2, CETP, LDLR, APOB, APOC3, APOA1
26phosphatidylcholine466.9LIPC, APOB, APOA2, APOA1, APOE, LDLR
27palmitate466.8INS, APOE, APOA1, COG2, LCAT, LPL
28intralipid466.8LCAT, LPL, CETP, LIPC, APOB, APOA2
29creatinine466.7INS, APOA1, APOC3, HMGCR, COG2, LPA
30vitamin a46 25 128.7LCAT, LPL, LPA, CETP, LDLR, LIPC
31sterol466.7HMGCR, PCSK9, COG2, LCAT, CETP, LDLR
32glucose466.6APOA5, COG2, APOA2, APOB, APOC3, APOA1
33pravastatin46 52 30 25 1210.5LCAT, LPL, LPA, CETP, LDLR, APOB
34simvastatin46 52 62 30 25 1211.5APOE, HMGCR, COG2, LCAT, LPL, LPA
35phospholipid466.2LPL, COG2, LCAT, CETP, LDLR, LIPC
36lovastatin46 52 62 30 1210.1APOA5, APOC3, APOA1, APOE, APOB, HMGCR
37testosterone46 62 25 129.0CETP, LIPC, APOE, APOA1, APOC3, COG2
38fatty acid466.0LCAT, LPL, LPA, CETP, COG2, LDLR
39serine466.0INS, APOE, APOA1, APOB, APOC2, APOA2
40thyroxine46 256.9APOB, APOA1, APOE, INS, LDLR, HMGCR
41cholesterol ester465.8APOE, APOA1, APOC3, APOA2, HMGCR, COG2
42atorvastatin46 52 30 25 129.8HMGCR, COG2, LCAT, LPL, LPA, CETP
43heparin46 30 25 128.6APOC3, APOE, APOA5, APOA2, LCAT, LPL
44triacylglycerol465.4LCAT, LPL, CETP, LDLR, LIPC, APOB
45estrogen465.3LDLR, COG2, LCAT, LPL, LPA, CETP
46gemfibrozil30 46 127.3HMGCR, COG2, INS, APOE, LPL, LPA
47fenofibrate46 52 127.2HMGCR, COG2, LPL, LPA, CETP, LDLR
48bezafibrate46 30 127.2APOC3, APOA1, APOE, INS, APOA2, APOB
49cholesterol46 30 25 127.3COG2, HMGCR, PCSK9, APOA1, APOC3, APOA2
50lipid464.2APOE, USF1, INS, APOA1, APOC3, APOA5

GO Terms for genes affiliated with Familial Hyperlipidemia

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17Gene Ontology
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Cellular components related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:0343669.6APOA1, APOC3, APOA2, APOC2
2endosome lumenGO:0319049.5APOB, INS
3secretory granule lumenGO:0347749.5APOA1, INS
4extrinsic component of external side of plasma membraneGO:0312329.3APOE, PCSK9
5endocytic vesicle lumenGO:0716829.1APOB, APOA1, APOE
6intermediate-density lipoprotein particleGO:0343639.1APOE, APOC3, APOC2, APOB
7endoplasmic reticulum lumenGO:0057889.0INS, APOA1, APOA2, APOB
8late endosomeGO:0057708.7PCSK9, LDLR, APOE
9low-density lipoprotein particleGO:0343628.7APOE, APOA5, APOC2, APOB, LDLR
10chylomicronGO:0426278.2LPL, APOB, APOC2, APOA2, APOA5, APOC3
11high-density lipoprotein particleGO:0343648.1APOA1, APOE, APOA5, APOA2, LIPC, LCAT
12early endosomeGO:0057697.9APOE, APOA1, APOC3, APOA2, APOC2, APOB
13very-low-density lipoprotein particleGO:0343617.8LPL, APOB, APOC2, APOA2, APOA5, APOC3
14extracellular regionGO:0055766.3INS, APOE, APOA1, APOC3, APOA5, APOA2
15extracellular spaceGO:0056156.1APOA5, APOC3, APOA1, APOE, INS, APOC2

Biological processes related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol importGO:06062110.4APOC3, APOA2
2positive regulation of very-low-density lipoprotein particle remodelingGO:01090210.3APOA5, APOC2
3negative regulation of cholesterol transportGO:03237510.3APOA2, APOC2
4negative regulation of lipid metabolic processGO:04583310.3APOC2, APOC3
5negative regulation of lipase activityGO:06019210.2APOA1, APOA2
6negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.2APOC2, APOC3
7triglyceride-rich lipoprotein particle remodelingGO:03437010.2APOA5, APOA2, APOC2
8negative regulation of low-density lipoprotein particle clearanceGO:01098910.2PCSK9, APOC3
9positive regulation of lipid catabolic processGO:05099610.1APOA5, APOA2
10regulation of intestinal cholesterol absorptionGO:03030010.1APOA1, APOA2
11negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA1, APOC3, APOA2
12lipoprotein transportGO:04295310.1APOC3, APOC2, APOB
13cholesterol importGO:07050810.0APOA1, LDLR
14chylomicron remodelingGO:03437110.0APOC2, LPL
15positive regulation of triglyceride catabolic processGO:01089810.0APOC2, APOA5
16protein oxidationGO:01815810.0APOA1, APOA2
17phosphatidylcholine biosynthetic processGO:00665610.0LCAT, APOA2, APOA1
18organ regenerationGO:0311009.9APOA1, APOA5, APOA2
19lipid transportGO:0068699.9LPA, CETP, APOA5
20triglyceride mobilizationGO:0066429.8APOC3, APOB
21negative regulation of lipid catabolic processGO:0509959.8INS, APOC3, APOA2
22negative regulation of vasodilationGO:0459089.7HMGCR, INS
23negative regulation of cytokine secretion involved in immune responseGO:0027409.6APOA1, APOA2
24cellular lipid metabolic processGO:0442559.6HMGCR, APOA2, APOA5, APOA1
25high-density lipoprotein particle assemblyGO:0343809.5APOA2, APOA1, APOE
26positive regulation of cholesterol esterificationGO:0108739.5APOE, APOA1, APOA2
27regulation of Cdc42 protein signal transductionGO:0324899.5APOE, APOA1, APOC3
28peripheral nervous system axon regenerationGO:0140129.3APOE, APOA1
29lipoprotein catabolic processGO:0421599.3APOE, APOB, LDLR
30response to drugGO:0424939.3APOA1, APOC3, APOA2, APOC2, LPL
31high-density lipoprotein particle clearanceGO:0343849.3APOE, APOA1, APOA2, APOC2
32cholesterol transportGO:0303019.3APOA1, APOB, LDLR, CETP, LCAT
33chylomicron remnant clearanceGO:0343829.1APOE, APOC3, APOC2, LIPC
34lipoprotein biosynthetic processGO:0421589.1APOE, APOA1, APOB, LCAT
35triglyceride catabolic processGO:0194339.1APOC3, APOA5, APOB, LIPC, LPL
36phospholipid effluxGO:0337009.1APOE, APOA1, APOC3, APOA2, APOC2
37low-density lipoprotein particle remodelingGO:0343748.8CETP, LIPC, APOB, APOA2, APOE
38receptor-mediated endocytosisGO:0068988.7APOE, APOB, LDLR, CETP, LPA
39cholesterol effluxGO:0333448.7APOE, APOA1, APOC3, APOA2, APOC2, APOB
40triglyceride homeostasisGO:0703288.6LIPC, APOC2, APOA5, APOC3, APOA1, CETP
41triglyceride metabolic processGO:0066418.4PCSK9, LPL, CETP, APOA2, APOA5, APOC3
42very-low-density lipoprotein particle remodelingGO:0343728.3LCAT, LPL, CETP, LIPC, APOC2, APOE
43high-density lipoprotein particle remodelingGO:0343758.3APOE, LCAT, CETP, LIPC, APOA2, APOC3
44reverse cholesterol transportGO:0436918.1LCAT, CETP, LIPC, APOC2, APOA2, APOC3
45retinoid metabolic processGO:0015237.8LDLR, APOB, APOC2, APOA2, APOC3, APOA1
46phototransduction, visible lightGO:0076037.8APOE, APOA1, APOC3, APOA2, LPL, LDLR
47cholesterol metabolic processGO:0082037.3PCSK9, LCAT, CETP, LDLR, LIPC, APOB
48cholesterol homeostasisGO:0426326.8APOE, APOA1, PCSK9, LCAT, CETP, LDLR
49lipoprotein metabolic processGO:0421576.5PCSK9, LCAT, LPL, LPA, CETP, LDLR
50small molecule metabolic processGO:0442815.7HMGCR, INS, APOE, APOA1, LCAT, LPL

Molecular functions related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein lipase activator activityGO:06023010.2APOC2, APOA5
2high-density lipoprotein particle receptor bindingGO:07065310.0APOA1, APOC3, APOA2
3phosphatidylcholine bindingGO:03121010.0CETP, APOA2, APOA5
4apolipoprotein receptor bindingGO:03419010.0APOA1, APOA2, PCSK9
5lipase bindingGO:03547310.0APOA5, APOB
6high-density lipoprotein particle bindingGO:0080359.9APOA2, APOA1
7triglyceride bindingGO:0171299.9LPL, CETP
8phospholipid transporter activityGO:0055489.9CETP, APOA1
9lipase inhibitor activityGO:0551029.8APOA1, APOC3, APOA2, APOC2
10cholesterol bindingGO:0154859.7APOA1, APOC3, APOA2, CETP
11low-density lipoprotein particle bindingGO:0301699.6LIPC, LDLR, PCSK9
12very-low-density lipoprotein particle receptor bindingGO:0703269.5PCSK9, APOE
13phospholipase activityGO:0046209.4LPL, LIPC
14lipid transporter activityGO:0053199.4APOE, APOA2, CETP
15phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.4APOA2, APOA1, APOE
16apolipoprotein bindingGO:0341859.3PCSK9, LPL, LPA, LIPC
17low-density lipoprotein particle receptor bindingGO:0507509.2APOE, APOA5, APOB, PCSK9
18lipid bindingGO:0082899.0APOE, APOA5, APOA2, APOC2, CETP
19cholesterol transporter activityGO:0171278.9CETP, APOB, APOA2, APOA1, APOE
20phospholipid bindingGO:0055438.6APOE, APOA1, APOC3, APOA5, APOA2, APOB
21protein homodimerization activityGO:0428038.3USF1, APOE, APOA2, APOC2, HMGCR
22heparin bindingGO:0082018.1APOE, APOA5, APOB, LIPC, LPA, LPL
23protein bindingGO:0055155.8APOA2, APOA1, APOE, USF1, INS, APOB

Products for genes affiliated with Familial Hyperlipidemia

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Sources for Familial Hyperlipidemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet