MCID: FML035
MIFTS: 55

Familial Hyperlipidemia malady

Genetic diseases, Rare diseases, Metabolic 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 hyperlipidemia type 3 and hyperchylomicronemia, late-onset. 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 10 12 62
Familial Hyperlipoproteinemia 10 62
 
Hyperlipidemia 62
Hyperlipemia 10


Classifications:



External Ids:

Disease Ontology10 DOID:1168

Related Diseases for Familial Hyperlipidemia

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Diseases in the Familial Hyperlipidemia family:

Hyperlipidemia Type 3

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1hyperlipidemia type 330.2LPA, LPL, COG2, HMGCR, APOE, APOA1
2hyperchylomicronemia, late-onset30.1APOE, APOC2, LPL
3hypertriglyceridemia30.0LPL, APOB, APOC3, USF1
4hypercholesterolemia, familial30.0HMGCR, PCSK9, CETP, LDLR, APOB
5cholestasis30.0CETP, LIPC, LCAT
6xanthomatosis30.0LPL, APOB, APOE, LDLR
7nephrotic syndrome29.9HMGCR, LCAT, LPL, LPA, CETP, APOB
8familial lipoprotein lipase deficiency10.3
9hyperlipoproteinemia type iii10.2
10hyperlipoproteinemia type iv10.1
11cerebral atherosclerosis10.0APOA1
12hepatic lipase deficiency10.0LIPC
13chylomicron retention disease10.0APOB
14lipoprotein glomerulopathy10.0APOE
15hypercholesterolemia, familial, autosomal recessive10.0LDLR, PCSK9
16amyloidosis, familial visceral10.0APOA1, APOA2
17stroke, ischemic10.0COG2, LPA, APOA2
18glycogen storage disease10.0
19pyloric stenosis10.0
20peripheral vascular disease10.0INS
21norum disease10.0APOA1, APOA2, LCAT
22fish-eye disease10.0APOA1, APOA2, LCAT
23sitosterolemia10.0HMGCR
24hypothyroidism10.0APOB, LPA, CETP
25arcus senilis10.0LCAT, APOB, APOA1
26secondary amyloidosis10.0LPA, APOA1, LCAT
27alagille syndrome10.0LCAT, LPA, APOA1
28macular degeneration, age-related, 110.0APOB, APOE
29hemorrhage, intracerebral10.0HMGCR, APOE
30thrombophilia due to thrombin defect10.0APOB, CETP, HMGCR
31alzheimer disease-210.0APOE, CETP
32lipase deficiency, combined10.0LPL, LIPC
33lipoprotein lipase deficiency10.0
34extrahepatic cholestasis10.0
35hyperglobulinemic purpura10.0
36hyperphosphatemia10.0
37shwartzman phenomenon10.0
38lactic acidosis10.0
39myeloma10.0
40purpura10.0
41endotheliitis10.0
42hypercholesterolemia, due to ligand-defective apo b10.0APOB, LDLR, APOE
43pancreatitis, hereditary10.0APOC2, APOB, LPL
44nicotine dependence, protection against10.0APOA1, APOB, LDLR, LPA
45hyperlipidemia, familial combined10.0HMGCR, APOB, APOA1, APOE
46hyperthyroidism10.0LDLR, APOA2, INS
47acute myocardial infarction10.0APOA1, APOB, LPA, LCAT, HMGCR
48hepatoblastoma10.0APOA1, APOA2, APOB, LDLR, HMGCR
49coronary stenosis10.0APOA1, LIPC, CETP, APOB, LPA
50dementia10.0CETP, LPA, LPL, APOE

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 UMLS62/NDF-RT41:

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:

33
Heart

Animal Models for Familial Hyperlipidemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperlipidemia:

37
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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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
9.0APOB, APOA1, APOE
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
8.9APOA1, APOC3, APOA5, APOA2, LPL
3
Show member pathways
thioredoxin pathway38
8.8LDLR, APOB, APOA1, INS
4
Show member pathways
8.8APOA1, APOA5, APOA2, LPL, HMGCR
5
Show member pathways
Vitamin B12 Metabolism38
8.7APOA1, APOE, INS
68.7INS, APOA1, APOA2, APOB, LPA
7
Show member pathways
8.5INS, LDLR, LPL, HMGCR
8
Show member pathways
7.4APOE, APOA1, APOC3, APOA2, APOC2, APOB
96.8INS, APOE, APOA1, APOC3, APOA2, APOC2
10
Show member pathways
6.8INS, APOE, APOA1, APOC3, APOA2, APOC2
11
Show member pathways
5.8APOE, APOA1, APOC3, APOA5, APOA2, APOC2
12
Show member pathways
5.8APOC2, APOB, LIPC, LDLR, CETP, LPL
13
Show member pathways
4.8APOA2, APOC2, APOB, LIPC, LDLR, 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
1psyllium459.1LCAT, CETP, LDLR, HMGCR, APOB
2fenofibric acid45 309.9APOC3, APOA1, HMGCR, LPL, APOB
3colestipol458.9APOB, COG2, HMGCR, APOA1
4mspi458.8APOA1, APOC3, LPA, CETP, LDLR, APOB
5ciprofibrate45 309.6APOA1, APOB, LDLR, LPL, HMGCR
6acipimox45 309.6APOA1, INS, HMGCR, CETP, APOB
7lathosterol45 269.5CETP, LDLR, HMGCR, APOE, APOB
8sele458.4LDLR, APOE, CETP, APOC3, LPL
9dimyristoylphosphatidylcholine458.3LPA, LDLR, APOA2, APOA5, APOA1, APOE
10xbai458.2CETP, APOC3, LDLR, APOE, APOB, LPL
11ezetimibe45 139.0APOA1, INS, APOB, LDLR, CETP, HMGCR
12retinyl palmitate45 269.0APOA1, APOB, APOE, COG2, LPL, LCAT
13sodium dodecylsulfate457.8APOC2, CETP, LIPC, LPA, LPL, APOE
14homocysteine45 268.8LPA, CETP, APOB, APOC2, APOC3, APOA1
15ritonavir45 51 139.7LPL, APOC3, HMGCR, INS, APOE, LDLR
16cholestyramine457.6HMGCR, COG2, LPA, CETP, LDLR, APOB
17alpha tocopherol457.5LCAT, HMGCR, CETP, LDLR, APOB, LPL
18aspirin45 51 30 2610.4COG2, HMGCR, APOE, APOB, LPA, CETP
19fluvastatin45 51 30 1310.3CETP, LDLR, APOB, APOA1, APOE, LPL
20rosiglitazone30 45 51 26 1311.3COG2, INS, LPA, APOC3, APOE, LPL
21niacin45 138.2INS, APOA1, HMGCR, COG2, LPL, LPA
22fibrinogen457.2INS, APOA1, APOC3, APOA2, LIPC, COG2
23probucol45 138.1CETP, LDLR, LIPC, APOB, APOA1, APOE
24carbohydrates457.0CETP, LDLR, LPL, LIPC, APOC3, APOE
25rosuvastatin45 51 30 1310.0COG2, CETP, LDLR, APOB, APOC3, APOA1
26phosphatidylcholine456.9LIPC, APOB, APOA2, APOA1, APOE, LDLR
27palmitate456.8INS, APOE, APOA1, COG2, LCAT, LPL
28intralipid456.8LCAT, LPL, CETP, LIPC, APOB, APOA2
29creatinine456.7INS, APOA1, APOC3, HMGCR, COG2, LPA
30vitamin a45 26 138.7LCAT, LPL, LPA, CETP, LDLR, LIPC
31sterol456.7HMGCR, PCSK9, COG2, LCAT, CETP, LDLR
32glucose456.6APOA5, COG2, APOA2, APOB, APOC3, APOA1
33pravastatin45 51 30 26 1310.5LCAT, LPL, LPA, CETP, LDLR, APOB
34simvastatin45 51 61 30 26 1311.5APOE, HMGCR, COG2, LCAT, LPL, LPA
35phospholipid456.2LPL, COG2, LCAT, CETP, LDLR, LIPC
36lovastatin45 51 61 30 1310.1APOA5, APOC3, APOA1, APOE, APOB, HMGCR
37testosterone45 61 26 139.0CETP, LIPC, APOE, APOA1, APOC3, COG2
38fatty acid456.0LCAT, LPL, LPA, CETP, COG2, LDLR
39serine456.0INS, APOE, APOA1, APOB, APOC2, APOA2
40thyroxine45 266.9APOB, APOA1, APOE, INS, LDLR, HMGCR
41cholesterol ester455.8APOE, APOA1, APOC3, APOA2, HMGCR, COG2
42atorvastatin45 51 30 26 139.8HMGCR, COG2, LCAT, LPL, LPA, CETP
43heparin45 30 26 138.6APOC3, APOE, APOA5, APOA2, LCAT, LPL
44triacylglycerol455.4LCAT, LPL, CETP, LDLR, LIPC, APOB
45estrogen455.3LDLR, COG2, LCAT, LPL, LPA, CETP
46gemfibrozil30 45 137.3HMGCR, COG2, INS, APOE, LPL, LPA
47fenofibrate45 51 137.2HMGCR, COG2, LPL, LPA, CETP, LDLR
48bezafibrate45 30 137.2APOC3, APOA1, APOE, INS, APOA2, APOB
49cholesterol45 30 26 137.3COG2, HMGCR, PCSK9, APOA1, APOC3, APOA2
50lipid454.2APOE, 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:00343669.6APOA1, APOC3, APOA2, APOC2
2endosome lumenGO:00319049.5APOB, INS
3secretory granule lumenGO:00347749.5APOA1, INS
4extrinsic component of external side of plasma membraneGO:00312329.3APOE, PCSK9
5endocytic vesicle lumenGO:00716829.1APOB, APOA1, APOE
6intermediate-density lipoprotein particleGO:00343639.1APOE, APOC3, APOC2, APOB
7endoplasmic reticulum lumenGO:00057889.0INS, APOA1, APOA2, APOB
8late endosomeGO:00057708.7PCSK9, LDLR, APOE
9low-density lipoprotein particleGO:00343628.7APOE, APOA5, APOC2, APOB, LDLR
10chylomicronGO:00426278.2LPL, APOB, APOC2, APOA2, APOA5, APOC3
11high-density lipoprotein particleGO:00343648.1APOA1, APOE, APOA5, APOA2, LIPC, LCAT
12early endosomeGO:00057697.9APOE, APOA1, APOC3, APOA2, APOC2, APOB
13very-low-density lipoprotein particleGO:00343617.8LPL, APOB, APOC2, APOA2, APOA5, APOC3
14extracellular regionGO:00055766.3INS, APOE, APOA1, APOC3, APOA5, APOA2
15extracellular spaceGO:00056156.1APOA5, 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:006062110.4APOC3, APOA2
2positive regulation of very-low-density lipoprotein particle remodelingGO:001090210.3APOA5, APOC2
3negative regulation of cholesterol transportGO:003237510.3APOA2, APOC2
4negative regulation of lipid metabolic processGO:004583310.3APOC2, APOC3
5negative regulation of lipase activityGO:006019210.2APOA1, APOA2
6negative regulation of very-low-density lipoprotein particle clearanceGO:001091610.2APOC2, APOC3
7triglyceride-rich lipoprotein particle remodelingGO:003437010.2APOA5, APOA2, APOC2
8negative regulation of low-density lipoprotein particle clearanceGO:001098910.2PCSK9, APOC3
9positive regulation of lipid catabolic processGO:005099610.1APOA5, APOA2
10regulation of intestinal cholesterol absorptionGO:003030010.1APOA1, APOA2
11negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.1APOA1, APOC3, APOA2
12lipoprotein transportGO:004295310.1APOC3, APOC2, APOB
13cholesterol importGO:007050810.0APOA1, LDLR
14chylomicron remodelingGO:003437110.0APOC2, LPL
15negative regulation of receptor-mediated endocytosisGO:004826110.0APOC2, APOC3
16protein oxidationGO:001815810.0APOA1, APOA2
17phosphatidylcholine biosynthetic processGO:000665610.0LCAT, APOA2, APOA1
18organ regenerationGO:00311009.9APOA1, APOA5, APOA2
19lipid transportGO:00068699.9LPA, CETP, APOA5
20triglyceride mobilizationGO:00066429.8APOC3, APOB
21negative regulation of lipid catabolic processGO:00509959.8INS, APOC3, APOA2
22negative regulation of vasodilationGO:00459089.7HMGCR, INS
23negative regulation of cytokine secretion involved in immune responseGO:00027409.6APOA1, APOA2
24cellular lipid metabolic processGO:00442559.6HMGCR, APOA2, APOA5, APOA1
25high-density lipoprotein particle assemblyGO:00343809.5APOA2, APOA1, APOE
26positive regulation of cholesterol esterificationGO:00108739.5APOE, APOA1, APOA2
27regulation of Cdc42 protein signal transductionGO:00324899.5APOE, APOA1, APOC3
28peripheral nervous system axon regenerationGO:00140129.3APOE, APOA1
29lipoprotein catabolic processGO:00421599.3APOE, APOB, LDLR
30response to drugGO:00424939.3APOA1, APOC3, APOA2, APOC2, LPL
31high-density lipoprotein particle clearanceGO:00343849.3APOE, APOA1, APOA2, APOC2
32cholesterol transportGO:00303019.3APOA1, APOB, LDLR, CETP, LCAT
33chylomicron remnant clearanceGO:00343829.1APOE, APOC3, APOC2, LIPC
34lipoprotein biosynthetic processGO:00421589.1APOE, APOA1, APOB, LCAT
35triglyceride catabolic processGO:00194339.1APOC3, APOA5, APOB, LIPC, LPL
36phospholipid effluxGO:00337009.1APOE, APOA1, APOC3, APOA2, APOC2
37low-density lipoprotein particle remodelingGO:00343748.8CETP, LIPC, APOB, APOA2, APOE
38receptor-mediated endocytosisGO:00068988.7APOE, APOB, LDLR, CETP, LPA
39cholesterol effluxGO:00333448.7APOE, APOA1, APOC3, APOA2, APOC2, APOB
40triglyceride homeostasisGO:00703288.6LIPC, APOC2, APOA5, APOC3, APOA1, CETP
41triglyceride metabolic processGO:00066418.4PCSK9, LPL, CETP, APOA2, APOA5, APOC3
42very-low-density lipoprotein particle remodelingGO:00343728.3LCAT, LPL, CETP, LIPC, APOC2, APOE
43high-density lipoprotein particle remodelingGO:00343758.3APOE, LCAT, CETP, LIPC, APOA2, APOC3
44reverse cholesterol transportGO:00436918.1LCAT, CETP, LIPC, APOC2, APOA2, APOC3
45retinoid metabolic processGO:00015237.8LDLR, APOB, APOC2, APOA2, APOC3, APOA1
46phototransduction, visible lightGO:00076037.8APOE, APOA1, APOC3, APOA2, LPL, LDLR
47cholesterol metabolic processGO:00082037.3PCSK9, LCAT, CETP, LDLR, LIPC, APOB
48cholesterol homeostasisGO:00426326.8APOE, APOA1, PCSK9, LCAT, CETP, LDLR
49lipoprotein metabolic processGO:00421576.5PCSK9, LCAT, LPL, LPA, CETP, LDLR
50small molecule metabolic processGO:00442815.7HMGCR, 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:006023010.2APOC2, APOA5
2high-density lipoprotein particle receptor bindingGO:007065310.0APOA1, APOC3, APOA2
3phosphatidylcholine bindingGO:003121010.0CETP, APOA2, APOA5
4apolipoprotein receptor bindingGO:003419010.0APOA1, APOA2, PCSK9
5lipase bindingGO:003547310.0APOA5, APOB
6high-density lipoprotein particle bindingGO:00080359.9APOA2, APOA1
7triglyceride bindingGO:00171299.9LPL, CETP
8phospholipid transporter activityGO:00055489.9CETP, APOA1
9lipase inhibitor activityGO:00551029.8APOA1, APOC3, APOA2, APOC2
10cholesterol bindingGO:00154859.7APOA1, APOC3, APOA2, CETP
11low-density lipoprotein particle bindingGO:00301699.6LIPC, LDLR, PCSK9
12very-low-density lipoprotein particle receptor bindingGO:00703269.5PCSK9, APOE
13phospholipase activityGO:00046209.4LPL, LIPC
14lipid transporter activityGO:00053199.4APOE, APOA2, CETP
15phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.4APOA2, APOA1, APOE
16apolipoprotein bindingGO:00341859.3PCSK9, LPL, LPA, LIPC
17low-density lipoprotein particle receptor bindingGO:00507509.2APOE, APOA5, APOB, PCSK9
18lipid bindingGO:00082899.0APOE, APOA5, APOA2, APOC2, CETP
19cholesterol transporter activityGO:00171278.9CETP, APOB, APOA2, APOA1, APOE
20phospholipid bindingGO:00055438.6APOE, APOA1, APOC3, APOA5, APOA2, APOB
21protein homodimerization activityGO:00428038.3USF1, APOE, APOA2, APOC2, HMGCR
22heparin bindingGO:00082018.1APOE, APOA5, APOB, LIPC, LPA, LPL
23protein bindingGO:00055155.8APOA2, 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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet