MCID: FML035
MIFTS: 55

Familial Hyperlipidemia malady

Genetic diseases, Metabolic diseases, Rare diseases, Endocrine diseases categories

Summaries for Familial Hyperlipidemia

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MalaCards based summary: 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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Familial Hyperlipidemia, Aliases & Descriptions:

Name: Familial Hyperlipidemia 9 11 61
Familial Hyperlipoproteinemia 9 61
 
Hyperlipidemia 61
Hyperlipemia 9


Classifications:



External Ids:

Disease Ontology9 DOID:1168

Related Diseases for Familial Hyperlipidemia

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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 v30.4LPL, APOC2, APOE
2cholestasis30.1LIPC, CETP, LCAT
3familial combined hyperlipidemia29.9APOE, APOA1, APOB, HMGCR
4familial hypercholesterolemia29.9HMGCR, PCSK9, CETP, LDLR, APOB
5xanthomatosis29.7APOE, APOB, LDLR, LPL
6nephrotic syndrome29.0HMGCR, LCAT, LPL, LPA, CETP, APOB
7hyperlipidemia type 328.5APOA5, APOA1, APOE, APOB, LIPC, LDLR
8diabetes mellitus27.6APOB, APOC2, APOA2, APOA5, APOC3, APOA1
9hypercholesterolemia27.1APOC3, APOA1, APOE, INS, APOA2, APOC2
10hypertriglyceridemia27.0APOA1, APOE, INS, APOC3, APOA5, APOA2
11cerebral atherosclerosis10.4APOA1
12chylomicron retention disease10.4APOB
13hepatic lipase deficiency10.4LIPC
14lipoprotein glomerulopathy10.4APOE
15familial lipoprotein lipase deficiency10.3
16amyloidosis, renal10.3APOA2, APOA1
17stroke, ischemic10.3COG2, LPA, APOA2
18peripheral vascular disease10.3INS
19sitosterolemia10.2HMGCR
20fish-eye disease10.2APOA1, APOA2, LCAT
21hypothyroidism10.2APOB, CETP, LPA
22arcus senilis10.2APOA1, APOB, LCAT
23amyloidosis, secondary10.2APOA1, LPA, LCAT
24alagille syndrome10.2LCAT, LPA, APOA1
25age related macular degeneration10.2APOE, APOB
26stroke, hemorrhagic10.2APOE, HMGCR
27panhypopituitarism10.1
28venous thrombosis10.1HMGCR, CETP, APOB
29complete lcat deficiency10.1APOA1, APOA2, LPA, LCAT
30alzheimer disease type 210.1CETP, APOE
31lipase deficiency combined10.1LIPC, LPL
32hyperlipoproteinemia type iv10.1
33hyperlipoproteinemia type iii10.1
34hyperlipoproteinemia type 210.1
35glycogen storage disease10.0
36supravalvular aortic stenosis10.0
37pyloric stenosis10.0
38pancreatitis, chronic10.0APOC2, APOB, LPL
39extrahepatic cholestasis10.0
40hyperphosphatemia10.0
41hyperglobulinemic purpura10.0
42shwartzman phenomenon10.0
43lactic acidosis10.0
44myeloma10.0
45purpura10.0
46adrenocortical insufficiency10.0
47endotheliitis10.0
48hyperthyroidism9.9INS, APOA2, LDLR
49acute myocardial infarction9.9APOA1, APOB, LPA, LCAT, HMGCR
50hepatoblastoma9.9APOA1, 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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Drug clinical trials:

Search ClinicalTrials for Familial Hyperlipidemia

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Familial Hyperlipidemia

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Anatomical Context for Familial Hyperlipidemia

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MalaCards organs/tissues related to Familial Hyperlipidemia:

32
Heart

Animal Models for Familial Hyperlipidemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperlipidemia:

36
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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Articles related to Familial Hyperlipidemia:

(show all 24)
idTitleAuthorsYear
1
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. (24955251)
2014
2
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. (24426212)
2013
3
Novel pharmacotherapies of familial hyperlipidemia. (23639874)
2013
4
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. (23896536)
2013
5
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. (22531366)
2013
6
Diffuse involvement of aorta in patient with familial hyperlipidemia. (22347657)
2011
7
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. (21918328)
2011
8
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. (21073119)
2010
9
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. (17097797)
2008
10
Association between physical activity, adiposity, and lipid abnormalities in children with familial hyperlipidemia. (17301628)
2007
11
Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. (15854507)
2005
12
Micro- and macrocirculatory effects of apheresis in patients with familial hyperlipidemia. (12921126)
2003
13
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. (12032266)
2002
14
Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. (9547191)
1997
15
Atypical pyloric stenosis in an infant with familial hyperlipidemia. (8657477)
1996
16
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. (7839978)
1995
17
Adult cardiologists or hyperlipidemia experts have advocated no screening and no treatment for children with familial hyperlipidemia. (8435922)
1993
18
Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. (2375785)
1990
19
Familial hyperlipidemia in stroke in the young. (3810712)
1986
20
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
21
Familial hyperlipidemia in coronary atherosclerotic heart disease. (6619068)
1983
22
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. (578151)
1977
23
Glycogen storage disease previously reported as familial hyperlipidemia. (5215216)
1965
24
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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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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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)37
8.9APOA1, APOA5, APOA2, LPL, APOC3
3
Show member pathways
thioredoxin pathway37
8.8APOB, LDLR, APOA1, INS
4
Show member pathways
8.8APOA1, APOA5, HMGCR, APOA2, LPL
5
Show member pathways
Vitamin B12 Metabolism37
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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Compounds related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show top 50)    (show all 450)
idCompoundScoreTop Affiliating Genes
1psyllium449.1LCAT, CETP, LDLR, HMGCR, APOB
2fenofibric acid44 299.9APOC3, APOA1, HMGCR, LPL, APOB
3colestipol448.9APOB, COG2, HMGCR, APOA1
4mspi448.8APOA1, APOC3, LPA, CETP, LDLR, APOB
5ciprofibrate44 299.6APOA1, APOB, LDLR, LPL, HMGCR
6acipimox44 299.6APOA1, INS, HMGCR, CETP, APOB
7lathosterol44 259.5CETP, LDLR, HMGCR, APOE, APOB
8sele448.4LDLR, APOE, CETP, APOC3, LPL
9dimyristoylphosphatidylcholine448.3LPA, LDLR, APOA2, APOA5, APOA1, APOE
10xbai448.2CETP, APOC3, LDLR, APOE, APOB, LPL
11ezetimibe44 129.0APOA1, INS, APOB, LDLR, CETP, HMGCR
12retinyl palmitate44 259.0APOA1, APOB, APOE, COG2, LPL, LCAT
13sodium dodecylsulfate447.8APOC2, CETP, LIPC, LPA, LPL, APOE
14homocysteine44 258.8LPA, CETP, APOB, APOC2, APOC3, APOA1
15ritonavir44 50 129.7LPL, APOC3, HMGCR, INS, APOE, LDLR
16cholestyramine447.6HMGCR, COG2, LPA, CETP, LDLR, APOB
17alpha tocopherol447.5LCAT, HMGCR, CETP, LDLR, APOB, LPL
18aspirin44 50 29 2510.4COG2, HMGCR, APOE, APOB, LPA, CETP
19fluvastatin44 50 29 1210.3CETP, LDLR, APOB, APOA1, APOE, LPL
20rosiglitazone29 44 50 25 1211.3COG2, INS, LPA, APOC3, APOE, LPL
21niacin44 128.2INS, APOA1, HMGCR, COG2, LPL, LPA
22fibrinogen447.2INS, APOA1, APOC3, APOA2, LIPC, COG2
23probucol44 128.1CETP, LDLR, LIPC, APOB, APOA1, APOE
24carbohydrates447.0CETP, LDLR, LPL, LIPC, APOC3, APOE
25rosuvastatin44 50 29 1210.0COG2, CETP, LDLR, APOB, APOC3, APOA1
26phosphatidylcholine446.9LIPC, APOB, APOA2, APOA1, APOE, LDLR
27palmitate446.8INS, APOE, APOA1, COG2, LCAT, LPL
28intralipid446.8LCAT, LPL, CETP, LIPC, APOB, APOA2
29creatinine446.7INS, APOA1, APOC3, HMGCR, COG2, LPA
30vitamin a44 25 128.7LCAT, LPL, LPA, CETP, LDLR, LIPC
31sterol446.7HMGCR, PCSK9, COG2, LCAT, CETP, LDLR
32glucose446.6APOA5, COG2, APOA2, APOB, APOC3, APOA1
33pravastatin44 50 29 25 1210.5LCAT, LPL, LPA, CETP, LDLR, APOB
34simvastatin44 50 60 29 25 1211.5APOE, HMGCR, COG2, LCAT, LPL, LPA
35phospholipid446.2LPL, COG2, LCAT, CETP, LDLR, LIPC
36lovastatin44 50 60 29 1210.1APOA5, APOC3, APOA1, APOE, APOB, HMGCR
37testosterone44 60 25 129.0CETP, LIPC, APOE, APOA1, APOC3, COG2
38fatty acid446.0LCAT, LPL, LPA, CETP, COG2, LDLR
39serine446.0INS, APOE, APOA1, APOB, APOC2, APOA2
40thyroxine44 256.9APOB, APOA1, APOE, INS, LDLR, HMGCR
41cholesterol ester445.8APOE, APOA1, APOC3, APOA2, HMGCR, COG2
42atorvastatin44 50 29 25 129.8HMGCR, COG2, LCAT, LPL, LPA, CETP
43heparin44 29 25 128.6APOC3, APOE, APOA5, APOA2, LCAT, LPL
44triacylglycerol445.4LCAT, LPL, CETP, LDLR, LIPC, APOB
45estrogen445.3LDLR, COG2, LCAT, LPL, LPA, CETP
46gemfibrozil29 44 127.3HMGCR, COG2, INS, APOE, LPL, LPA
47fenofibrate44 50 127.2HMGCR, COG2, LPL, LPA, CETP, LDLR
48bezafibrate44 29 127.2APOC3, APOA1, APOE, INS, APOA2, APOB
49cholesterol44 29 25 127.3COG2, HMGCR, PCSK9, APOA1, APOC3, APOA2
50lipid444.2APOE, USF1, INS, APOA1, APOC3, APOA5

GO Terms for genes affiliated with Familial Hyperlipidemia

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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:03237510.3APOC2, APOA2
4negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.2APOC2, APOC3
5negative regulation of lipase activityGO:06019210.2APOA1, APOA2
6triglyceride-rich lipoprotein particle remodelingGO:03437010.2APOA5, APOA2, APOC2
7negative regulation of low-density lipoprotein particle clearanceGO:01098910.2PCSK9, APOC3
8regulation of intestinal cholesterol absorptionGO:03030010.2APOA1, APOA2
9negative regulation of lipid metabolic processGO:04583310.2APOC2, APOC3
10negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA2, APOC3, APOA1
11lipoprotein transportGO:04295310.1APOC3, APOC2, APOB
12triglyceride mobilizationGO:00664210.0APOB, APOC3
13cholesterol importGO:07050810.0LDLR, APOA1
14chylomicron remodelingGO:03437110.0LPL, APOC2
15negative regulation of receptor-mediated endocytosisGO:04826110.0APOC3, APOC2
16positive regulation of lipid catabolic processGO:05099610.0APOA2, APOA5
17negative regulation of cytokine secretion involved in immune responseGO:00274010.0APOA2, APOA1
18phosphatidylcholine biosynthetic processGO:00665610.0LCAT, APOA2, APOA1
19organ regenerationGO:0311009.9APOA2, APOA5, APOA1
20lipid transportGO:0068699.9APOA5, CETP, LPA
21protein oxidationGO:0181589.8APOA1, APOA2
22negative regulation of lipid catabolic processGO:0509959.8APOA2, INS, APOC3
23negative regulation of vasodilationGO:0459089.7INS, HMGCR
24cellular lipid metabolic processGO:0442559.6APOA1, APOA5, APOA2, HMGCR
25high-density lipoprotein particle assemblyGO:0343809.5APOE, APOA1, APOA2
26positive regulation of cholesterol esterificationGO:0108739.5APOA1, APOE, APOA2
27regulation of Cdc42 protein signal transductionGO:0324899.5APOE, APOC3, APOA1
28lipoprotein catabolic processGO:0421599.3LDLR, APOE, APOB
29response to drugGO:0424939.3LPL, APOC2, APOA2, APOC3, APOA1
30high-density lipoprotein particle clearanceGO:0343849.3APOC2, APOA1, APOA2, APOE
31cholesterol transportGO:0303019.3LDLR, CETP, LCAT, APOA1, APOB
32chylomicron remnant clearanceGO:0343829.2APOC3, APOC2, APOE, LIPC
33lipoprotein biosynthetic processGO:0421589.1APOA1, APOB, LCAT, APOE
34triglyceride catabolic processGO:0194339.1APOC3, LPL, LIPC, APOB, APOA5
35phospholipid effluxGO:0337009.1APOE, APOC2, APOA2, APOC3, APOA1
36peripheral nervous system axon regenerationGO:0140129.0APOE, APOA1
37low-density lipoprotein particle remodelingGO:0343748.8APOE, APOA2, APOB, LIPC, CETP
38receptor-mediated endocytosisGO:0068988.7CETP, LPA, APOE, APOB, LDLR
39cholesterol effluxGO:0333448.7APOE, APOB, APOC2, APOA2, APOC3, APOA1
40triglyceride homeostasisGO:0703288.6APOA5, APOC2, LIPC, CETP, LPL, APOA1
41triglyceride metabolic processGO:0066418.4APOA5, APOC3, APOE, APOA2, CETP, LPL
42very-low-density lipoprotein particle remodelingGO:0343728.3LCAT, LPL, CETP, LIPC, APOC2, APOE
43high-density lipoprotein particle remodelingGO:0343758.3APOA1, APOC3, APOA2, LIPC, APOE, LCAT
44reverse cholesterol transportGO:0436918.1LCAT, APOE, APOA1, APOC3, APOA2, APOC2
45retinoid metabolic processGO:0015237.8LPL, LDLR, APOB, APOC2, APOA2, APOC3
46phototransduction, visible lightGO:0076037.8APOC3, APOA1, APOE, LPL, LDLR, APOB
47cholesterol metabolic processGO:0082037.3APOC3, APOA2, APOB, LIPC, LDLR, CETP
48cholesterol homeostasisGO:0426326.9APOC3, APOA5, APOA2, APOC2, APOB, LIPC
49lipoprotein metabolic processGO:0421576.5APOE, APOA1, PCSK9, LCAT, APOC3, APOA5
50small molecule metabolic processGO:0442815.7LPA, LPL, LCAT, HMGCR, INS, APOE

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein lipase activator activityGO:06023010.2APOC2, APOA5
2phosphatidylcholine bindingGO:03121010.0APOA5, CETP, APOA2
3high-density lipoprotein particle receptor bindingGO:07065310.0APOA1, APOC3, APOA2
4apolipoprotein receptor bindingGO:03419010.0APOA2, PCSK9, APOA1
5lipase bindingGO:03547310.0APOB, APOA5
6high-density lipoprotein particle bindingGO:0080359.9APOA2, APOA1
7triglyceride bindingGO:0171299.9LPL, CETP
8phospholipid transporter activityGO:0055489.9APOA1, CETP
9lipase inhibitor activityGO:0551029.8APOC2, APOA2, APOA1, APOC3
10cholesterol bindingGO:0154859.7APOA2, APOC3, APOA1, CETP
11low-density lipoprotein particle bindingGO:0301699.6PCSK9, LIPC, LDLR
12very-low-density lipoprotein particle receptor bindingGO:0703269.5APOE, PCSK9
13phospholipase activityGO:0046209.4LPL, LIPC
14lipid transporter activityGO:0053199.4APOE, APOA2, CETP
15phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.4APOE, APOA1, APOA2
16apolipoprotein bindingGO:0341859.3LPL, LPA, LIPC, PCSK9
17low-density lipoprotein particle receptor bindingGO:0507509.2PCSK9, APOA5, APOE, APOB
18lipid bindingGO:0082899.0CETP, APOE, APOA5, APOA2, APOC2
19cholesterol transporter activityGO:0171278.9APOA2, APOA1, APOE, APOB, CETP
20phospholipid bindingGO:0055438.6APOC3, APOA1, APOA2, APOA5, APOE, APOB
21protein homodimerization activityGO:0428038.3APOE, HMGCR, APOC2, USF1, APOA2
22heparin bindingGO:0082018.1LIPC, APOB, LPA, APOA5, LPL, APOE
23protein bindingGO:0055155.8APOB, LPL, LCAT, COG2, PCSK9, LDLR

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
29IUPHAR
30KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
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