MCID: FML035
MIFTS: 48

Familial Hyperlipidemia malady

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

Aliases & Classifications for Familial Hyperlipidemia

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Familial Hyperlipidemia, Aliases & Descriptions:

Name: Familial Hyperlipidemia 9 11
Familial Hyperlipoproteinemia 9 60
Familial Hyperlipemia 60
 
Hyperlipidemia 60
Hyperlipemia 9


Classifications:



External Ids:

Disease Ontology9 DOID:1168

Summaries for Familial Hyperlipidemia

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MalaCards based summary: Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to hyperchylomicronemia, late-onset and hyperlipidemia, familial combined. 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.

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 Suite gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1hyperchylomicronemia, late-onset30.2LPL, APOC2, APOE
2hyperlipidemia, familial combined30.2APOE, APOA1, APOB, HMGCR
3cholestasis30.1LIPC, CETP, LCAT
4hypercholesterolemia, familial29.9HMGCR, 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
8hypertriglyceridemia27.0APOA1, APOE, INS, APOC3, APOA5, APOA2
9cerebral atherosclerosis10.4APOA1
10hepatic lipase deficiency10.4LIPC
11chylomicron retention disease10.4APOB
12lipoprotein glomerulopathy10.4APOE
13hypercholesterolemia, familial, autosomal recessive10.3LDLR, PCSK9
14amyloidosis, familial visceral10.3APOA2, APOA1
15stroke, ischemic10.3COG2, LPA, APOA2
16peripheral vascular disease10.3INS
17norum disease10.2APOA1, APOA2, LCAT
18fish-eye disease10.2APOA1, APOA2, LCAT
19sitosterolemia10.2HMGCR
20hyperlipoproteinemia type iii10.2
21familial lipoprotein lipase deficiency10.2
22hypothyroidism10.2APOB, CETP, LPA
23arcus senilis10.2APOA1, APOB, LCAT
24secondary amyloidosis10.2APOA1, LPA, LCAT
25alagille syndrome10.2LCAT, LPA, APOA1
26macular degeneration, age-related, 110.2APOE, APOB
27hemorrhage, intracerebral10.1APOE, HMGCR
28thrombophilia due to thrombin defect10.1HMGCR, CETP, APOB
29alzheimer disease-210.1CETP, APOE
30lipase deficiency, combined10.1LIPC, LPL
31hypercholesterolemia, due to ligand-defective apo b10.1APOE, APOB, LDLR
32glycogen storage disease10.0
33pyloric stenosis10.0
34lipoprotein lipase deficiency10.0
35hyperlipoproteinemia type iv10.0
36extrahepatic cholestasis10.0
37hyperglobulinemic purpura10.0
38hyperphosphatemia10.0
39shwartzman phenomenon10.0
40lactic acidosis10.0
41myeloma10.0
42purpura10.0
43endotheliitis10.0
44pancreatitis, hereditary10.0APOC2, APOB, LPL
45nicotine dependence, protection against10.0APOA1, APOB, LDLR, LPA
46hyperthyroidism9.9INS, APOA2, LDLR
47acute myocardial infarction9.9APOA1, APOB, LPA, LCAT, HMGCR
48hepatoblastoma9.8APOA1, APOA2, APOB, LDLR, HMGCR
49coronary stenosis9.8APOA1, APOB, LIPC, CETP, LPA
50dementia9.8LPL, LPA, CETP, 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 UMLS60/NDF-RT39:

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:

31
Heart

Animal Models for Familial Hyperlipidemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperlipidemia:

35
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 Suite gene sharing:

(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)36
8.9APOA1, APOC3, APOA5, APOA2, LPL
3
Show member pathways
thioredoxin pathway36
8.8LDLR, APOB, APOA1, INS
4
Show member pathways
8.8APOA1, APOA5, APOA2, LPL, HMGCR
5
Show member pathways
Vitamin B12 Metabolism36
8.7APOA1, APOE, INS
6
Show member pathways
8.5INS, LDLR, LPL, HMGCR
7
Show member pathways
7.4APOE, APOA1, APOC3, APOA2, APOC2, APOB
86.8INS, APOE, APOA1, APOC3, APOA2, APOC2
9
Show member pathways
6.8INS, APOE, APOA1, APOC3, APOA2, APOC2
10
Show member pathways
5.8APOE, APOA1, APOC3, APOA5, APOA2, APOC2
11
Show member pathways
5.8APOC2, APOB, LIPC, LDLR, CETP, LPL
12
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 Suite gene sharing:

(show top 50)    (show all 450)
idCompoundScoreTop Affiliating Genes
1psyllium439.1LCAT, CETP, LDLR, HMGCR, APOB
2fenofibric acid43 289.9APOC3, APOA1, HMGCR, LPL, APOB
3colestipol438.9APOB, COG2, HMGCR, APOA1
4mspi438.8APOA1, APOC3, LPA, CETP, LDLR, APOB
5ciprofibrate43 289.6APOA1, APOB, LDLR, LPL, HMGCR
6acipimox43 289.6APOA1, INS, HMGCR, CETP, APOB
7lathosterol43 249.5CETP, LDLR, HMGCR, APOE, APOB
8sele438.4LDLR, APOE, CETP, APOC3, LPL
9dimyristoylphosphatidylcholine438.3LPA, LDLR, APOA2, APOA5, APOA1, APOE
10xbai438.2CETP, APOC3, LDLR, APOE, APOB, LPL
11ezetimibe43 129.0APOA1, INS, APOB, LDLR, CETP, HMGCR
12retinyl palmitate43 249.0APOA1, APOB, APOE, COG2, LPL, LCAT
13sodium dodecylsulfate437.8APOC2, CETP, LIPC, LPA, LPL, APOE
14homocysteine43 248.8LPA, CETP, APOB, APOC2, APOC3, APOA1
15ritonavir43 49 129.7LPL, APOC3, HMGCR, INS, APOE, LDLR
16cholestyramine437.6HMGCR, COG2, LPA, CETP, LDLR, APOB
17alpha tocopherol437.5LCAT, HMGCR, CETP, LDLR, APOB, LPL
18aspirin43 49 28 2410.4COG2, HMGCR, APOE, APOB, LPA, CETP
19fluvastatin43 49 28 1210.3CETP, LDLR, APOB, APOA1, APOE, LPL
20rosiglitazone28 43 49 24 1211.3COG2, INS, LPA, APOC3, APOE, LPL
21niacin43 128.2INS, APOA1, HMGCR, COG2, LPL, LPA
22fibrinogen437.2INS, APOA1, APOC3, APOA2, LIPC, COG2
23probucol43 128.1CETP, LDLR, LIPC, APOB, APOA1, APOE
24carbohydrates437.0CETP, LDLR, LPL, LIPC, APOC3, APOE
25rosuvastatin43 49 28 1210.0COG2, CETP, LDLR, APOB, APOC3, APOA1
26phosphatidylcholine436.9LIPC, APOB, APOA2, APOA1, APOE, LDLR
27palmitate436.8INS, APOE, APOA1, COG2, LCAT, LPL
28intralipid436.8LCAT, LPL, CETP, LIPC, APOB, APOA2
29creatinine436.7INS, APOA1, APOC3, HMGCR, COG2, LPA
30vitamin a43 24 128.7LCAT, LPL, LPA, CETP, LDLR, LIPC
31sterol436.7HMGCR, PCSK9, COG2, LCAT, CETP, LDLR
32glucose436.6APOA5, COG2, APOA2, APOB, APOC3, APOA1
33pravastatin43 49 28 24 1210.5LCAT, LPL, LPA, CETP, LDLR, APOB
34simvastatin43 49 59 28 24 1211.5APOE, HMGCR, COG2, LCAT, LPL, LPA
35phospholipid436.2LPL, COG2, LCAT, CETP, LDLR, LIPC
36lovastatin43 49 59 28 1210.1APOA5, APOC3, APOA1, APOE, APOB, HMGCR
37testosterone43 59 24 129.0CETP, LIPC, APOE, APOA1, APOC3, COG2
38fatty acid436.0LCAT, LPL, LPA, CETP, COG2, LDLR
39serine436.0INS, APOE, APOA1, APOB, APOC2, APOA2
40thyroxine43 246.9APOB, APOA1, APOE, INS, LDLR, HMGCR
41cholesterol ester435.8APOE, APOA1, APOC3, APOA2, HMGCR, COG2
42atorvastatin43 49 28 24 129.8HMGCR, COG2, LCAT, LPL, LPA, CETP
43heparin43 28 24 128.6APOC3, APOE, APOA5, APOA2, LCAT, LPL
44triacylglycerol435.4LCAT, LPL, CETP, LDLR, LIPC, APOB
45estrogen435.3LDLR, COG2, LCAT, LPL, LPA, CETP
46gemfibrozil28 43 127.3HMGCR, COG2, INS, APOE, LPL, LPA
47fenofibrate43 49 127.2HMGCR, COG2, LPL, LPA, CETP, LDLR
48bezafibrate43 28 127.2APOC3, APOA1, APOE, INS, APOA2, APOB
49cholesterol43 28 24 127.3COG2, HMGCR, PCSK9, APOA1, APOC3, APOA2
50lipid434.2APOE, 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 Suite gene sharing:

(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 Suite gene sharing:

(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 Suite gene sharing:

(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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
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50PubMed
51QIAGEN
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60UMLS
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