MCID: FML035
MIFTS: 53

Familial Hyperlipidemia malady

Summaries for Familial Hyperlipidemia

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33MalaCards
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MalaCards: Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to insulin resistance and atherosclerosis. An important gene associated with Familial Hyperlipidemia is APOC2 (apolipoprotein C-II), and among its related pathways are Scavenging by Class B Receptors and triacylglycerol degradation. The drugs fish oils and niacin and the compounds alpha tocopherol and xbai have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and liver/biliary system.

Aliases & Classifications for Familial Hyperlipidemia

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
See all sources

Aliases & Descriptions:

familial hyperlipidemia 8 10
familial hyperlipoproteinemia 8 61
hyperlipidemia 61
hyperlipemia 8


External Ids:

Disease Ontology8 DOID:1168

Related Diseases for Familial Hyperlipidemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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 210)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance30.7LCAT, COG2, APOA1, APOC3, APOA2, LDLR
2atherosclerosis30.7LDLR, CETP, HMGCR, PCSK9, USF1, LPL
3familial lipoprotein lipase deficiency30.5LPL
4coronary artery disease,30.4APOA5, APOA1, LCAT, COG2, LDLR, CETP
5glucose intolerance30.2APOA1, APOC2, APOB, LPL, CETP
6hyperhomocysteinemia30.2LPA
7familial combined hyperlipidemia30.2APOA1, APOB, HMGCR
8coronary heart disease30.1APOC2, APOA2, APOC3, APOA5, APOA1, LCAT
9acute pancreatitis30.1PNLIP, LPL, APOC2
10stroke, ischemic30.0COG2, APOA1, APOB, LPA, HMGCR
11hyperlipoproteinemia type v30.0APOC2, LPL
12fatty liver disease29.9PPARA
13familial hypercholesterolemia29.9APOB, PCSK9, HMGCR, CETP, LDLR
14fish-eye disease29.9LCAT, APOA1, APOA2
15familial hypertriglyceridemia29.9LPL, APOB, APOC2, APOA2, APOC3, APOA5
16lipoprotein lipase deficiency29.9LPL
17xanthomatosis29.9APOB, LPL, LDLR
18diabetic nephropathy29.9APOA1, APOB, PPARA, LPA, HMGCR
19hyperalphalipoproteinemia29.9LDLR, CETP, APOB, APOA2, APOC3, APOA1
20vascular disease29.9LDLR, CETP, HMGCR, LPL, LPA, PPARA
21hypercholesterolemia29.9LDLR, CETP, HMGCR, PCSK9, LPL, LPA
22hypertriglyceridemia29.9HMGCR, LPL, LPA, PPARA, APOB, APOC2
23hyperlipidemia type 329.9COG2, APOA1, APOA5, APOB, LDLR, CETP
24gout29.7LCAT
25polycystic ovary syndrome29.7PPARA, APOA1
26osteoarthritis29.7PPARA
27uremia29.7LCAT, APOC3, LPA, LPL, LDLR
28nephrosis10.2
29hyperlipidemia, combined, 210.1
30panhypopituitarism10.1
31apo a-i deficiency10.1
32familial hypertension10.1
33glycogen storage disease type 1a10.1
34hyperlipoproteinemia type iv10.0
35hyperlipoproteinemia type 210.0
36familial nephrotic syndrome10.0
37supravalvular aortic stenosis10.0
38n syndrome10.0
39lip disease10.0
40lung cancer10.0PCSK9
41steatorrhea10.0PNLIP
42hepatitis10.0LDLR
43acromegaly10.0LPA
44chylomicron retention disease10.0APOB
45thromboembolism10.0APOA1
46cholesterol ester storage disease10.0PNLIP
47alcohol abuse10.0COG2, LCAT
48pancreatic steatorrhea10.0PNLIP
49cholestasis10.0LCAT, CETP
50hyperthyroidism10.0APOA2, LDLR

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



Diseases related to familial hyperlipidemia

Clinical Features for Familial Hyperlipidemia

Drugs & Therapeutics for Familial Hyperlipidemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Familial Hyperlipidemia

Drug clinical trials:

Search ClinicalTrials for Familial Hyperlipidemia

Search NIH Clinical Center for Familial Hyperlipidemia

Search CenterWatch for Familial Hyperlipidemia

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Familial Hyperlipidemia

Anatomical Context for Familial Hyperlipidemia

Animal Models for Familial Hyperlipidemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LDLR, PNLIP, LPL, PPARA, APOC3
2MP:00053708.3PNLIP, LDLR, PCSK9, LPL, PPARA, APOB
3MP:00053767.5LDLR, LCAT, APOA1, PNLIP, PCSK9, LPL

Publications for Familial Hyperlipidemia

Sources:
51PubMed
See all sources

Articles related to Familial Hyperlipidemia:

(show top 50)    (show all 300)
idTitleAuthorsYear
1
Pathway analysis detect potential mechanism for familial combined hyperlipidemia. (23877856)
2013
2
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis. (24222859)
2013
3
Novel pharmacotherapies of familial hyperlipidemia. (23639874)
2013
4
Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. (22481068)
2012
5
Arterial endothelial function and wall thickness in familial hypercholesterolemia and familial combined hyperlipidemia and the effect of statins. A systematic review and meta-analysis. (21074770)
2011
6
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. (21918328)
2011
7
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene. (19335919)
2009
8
Small dense LDL-cholesterol determined by a simple precipitation assay for screening familial combined hyperlipidemia. (19201411)
2009
9
Endothelial haemostatic markers in members of families with familial combined hyperlipidemia. (18417194)
2009
10
Relationship between familial combined hyperlipidemia and insulin resistance. (19069677)
2008
11
Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia. (17157483)
2007
12
Pulse wave velocity in familial combined hyperlipidemia. (17324737)
2007
13
Familial combined hyperlipidemia: upstream transcription factor 1 and beyond. (16531745)
2006
14
Longitudinal differences in familial combined hyperlipidemia quantitative trait loci. (16709947)
2006
15
Up-regulation of CD36/FAT in preadipocytes in familial combined hyperlipidemia. (16219805)
2005
16
Elevated leptin levels in subjects with familial combined hyperlipidemia are associated with the increased risk for CVD. (16285998)
2005
17
Detection of early atherosclerosis using the ultrasound parameter of the intima-media thickness of the common carotid artery in families with familial combined hyperlipidemia. (15765037)
2004
18
Treatment of type IIb familial combined hyperlipidemia with the combination pravastatin-piperazine sultosilate. (15288592)
2004
19
An association of apolipoprotein B with pulse pressure in Chinese pedigrees with familial combined hyperlipidemia]. (15061989)
2004
20
Diagnostic criteria in relation to the pathogenesis of familial combined hyperlipidemia. (15630632)
2004
21
Differential gene expression of blood-derived cell lines in familial combined hyperlipidemia. (15388524)
2004
22
Lipoprotein distribution in the metabolic syndrome, type 2 diabetes mellitus, and familial combined hyperlipidemia. (12957324)
2003
23
Identification of differentially expressed genes in subcutaneous adipose tissue from subjects with familial combined hyperlipidemia. (12032168)
2002
24
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. (12032266)
2002
25
Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia. (12370850)
2002
26
In vivo modulation of plasma free fatty acids in patients with familial combined hyperlipidemia using lipid-lowering medication. (11932285)
2002
27
Association between carotid intima-media thickness and low-density lipoprotein size and susceptibility of low-density lipoprotein to oxidation in asymptomatic members of familial combined hyperlipidemia families. (11988600)
2002
28
The hormone sensitive lipase gene in familial combined hyperlipidemia and insulin resistance. (11298776)
2001
29
Familial combined hyperlipidemia and insulin resistance. (11742892)
2001
30
New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia. (11181747)
2001
31
In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. (10884291)
2000
32
The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia. (10924736)
2000
33
Comparison of the measurement of lipids and lipoproteins versus assay of apolipoprotein B for estimation of coronary heart disease risk: a study in familial combined hyperlipidemia. (11164438)
2000
34
Lipoprotein (a) concentrations in patients with familial combined hyperlipidemia and hypertension. (10431554)
1999
35
Vitamin A is linked to the expression of the AI-CIII-AIV gene cluster in familial combined hyperlipidemia. (10064730)
1999
36
A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. (10417282)
1999
37
Randomized crossover study of gemfibrozil versus lovastatin in familial combined hyperlipidemia: additive effects of combination treatment on lipid regulation. (9920144)
1999
38
Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. (9683614)
1998
39
In vitro lipolysis of human VLDL: effect of different VLDL compositions in normolipidemia, familial combined hyperlipidemia and familial hypertriglyceridemia. (8678926)
1996
40
Atypical pyloric stenosis in an infant with familial hyperlipidemia. (8657477)
1996
41
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. (8541837)
1995
42
Impaired chylomicron remnant clearance in familial combined hyperlipidemia. (8499400)
1993
43
A case of glomerular lipidosis accompanied by familial combined hyperlipidemia and panhypopituitarism. (1568042)
1992
44
Lipoprotein lipase modulates net secretory output of apolipoprotein B in vitro. A possible pathophysiologic explanation for familial combined hyperlipidemia. (1918380)
1991
45
Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia. (2369363)
1990
46
Apolipoprotein, low density lipoprotein subfraction, and insulin associations with familial combined hyperlipidemia. Study of Utah patients with familial dyslipidemic hypertension. (2497719)
1989
47
The effects of omega 3 and omega 6 fatty acid-enriched diets on plasma lipoproteins and apoproteins in familial combined hyperlipidemia. (3185285)
1988
48
Low density lipoprotein metabolism in familial combined hyperlipidemia and familial hypercholesterolemia: kinetic analysis using an integrated model. (3736410)
1986
49
A study of familial combined hyperlipidemia in 11 families. (6671713)
1983
50
Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. (6403642)
1983

Genetic Variations for Familial Hyperlipidemia

Expression for genes affiliated with Familial Hyperlipidemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 50PharmGKB
See all sources

Pathways related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9APOA1, APOB
29.8ABHD6, PNLIP
3
Hide members
9.6LPL, HMGCR, LDLR
49.6APOA1, APOB, LDLR
59.6LDLR, HMGCR, PPARA
69.5PNLIP, APOA1, APOB
79.5PNLIP, APOB, APOA1
89.5LPA, LDLR, APOB, CETP
99.5APOA1, LPA, APOB, APOA2
10
Hide members
9.2HMGCR, APOA1, PPARA, APOA2, APOA5
119.0APOA5, APOC3, APOA2, PPARA, LPL, APOA1
12
Hide members
8.4APOA2, APOC2, APOC3, APOB, APOA1, LDLR
13
Hide members
8.4APOC3, APOB, APOA1, APOA2, APOC2, LPL
148.4APOC2, APOA1, APOC3, APOA2, LPL, PNLIP
15
Hide members
8.2APOC2, LPL, LCAT, APOA1, APOA5, LPA
16
Hide members
7.9APOA1, APOA5, APOC3, APOA2, APOC2, LDLR
17
Hide members
7.8APOB, LPA, LPL, APOA2, PNLIP, APOC2

Compounds for genes affiliated with Familial Hyperlipidemia

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4510.1LCAT, LPL, LDLR
2xbai459.9LPL, LDLR, APOC3
3rosiglitazone45 50 29 11 2413.8PPARA, COG2
4psyllium459.6LDLR, CETP, HMGCR, APOB, LCAT
5trioleoylglycerol459.6APOA1, PNLIP, LPL, APOC2
6dimyristoylphosphatidylcholine459.4APOA1, APOA5, APOA2, LPA, LCAT, LDLR
7colestipol459.4HMGCR, APOB, APOA1, COG2
8palmitate459.4COG2, LDLR, CETP, PPARA, LCAT
9fenofibric acid45 2910.3APOA1, APOC3, APOB, PPARA, HMGCR, LPL
10intralipid459.2APOA2, APOB, LPL, CETP, APOC3, APOA1
11p-opc459.2CETP, APOA2, LCAT, APOA1
12tocopherol459.2LPL, APOB, LDLR, APOA1, HMGCR
13ciprofibrate45 2910.2APOA1, APOB, PPARA, LPL, HMGCR, LDLR
14mspi459.1APOA1, APOC3, APOA2, APOB, LPA, CETP
15taurocholate459.1APOA1, APOC3, APOB, LPL, PNLIP, HMGCR
16retinyl palmitate45 2410.0COG2, LPL, APOB, APOA1, LCAT, PNLIP
17cholestyramine458.9LDLR, CETP, HMGCR, LPA, APOB, APOC3
18oleic acid45 29 11 2411.9CETP, PNLIP, LPL, PPARA, LDLR, LPA
19cerivastatin45 50 29 1111.9COG2, APOA1, PPARA, APOB, HMGCR
20homocysteine45 249.9APOB, APOC3, CETP, LPA, APOC2, APOA1
21probucol45 119.8CETP, HMGCR, LPL, PPARA, APOB, APOA1
22stearic acid45 11 2410.8PNLIP, LPL, PPARA, CETP, COG2, LDLR
23ezetimibe45 119.8COG2, PPARA, HMGCR, CETP, LDLR, APOB
24metformin45 50 1110.7COG2, APOA1, APOB, PPARA, PNLIP, LPL
25rosuvastatin45 50 29 1111.6LDLR, CETP, HMGCR, PPARA, APOB, APOC3
26fluvastatin45 50 29 1111.5APOB, COG2, LDLR, CETP, HMGCR, LPL
27phosphatidylcholine458.5LCAT, LDLR, PNLIP, LPL, LPA, CETP
28vitamin a45 11 2410.5LDLR, CETP, LCAT, APOA1, APOC3, APOC2
29thyroxine45 249.5APOB, CETP, COG2, LDLR, APOA1, HMGCR
30aspirin45 50 29 2411.4HMGCR, LDLR, PPARA, APOB, APOA1, COG2
31lovastatin45 50 60 29 1112.4LDLR, CETP, HMGCR, LPL, LPA, APOB
32niacin45 119.4HMGCR, APOB, APOA1, COG2, PPARA, LPL
33sterol458.3LCAT, APOA1, APOB, PPARA, COG2, USF1
34pravastatin45 50 29 11 2412.2COG2, LCAT, APOA1, APOC3, APOB, PPARA
35simvastatin45 50 60 29 11 2413.1CETP, LDLR, HMGCR, LPL, COG2, LCAT
36phospholipid458.0COG2, LCAT, APOA1, APOC3, APOA2, APOC2
37testosterone45 60 11 2410.9COG2, LCAT, APOA1, APOC3, APOB, PPARA
38atorvastatin45 50 29 11 2411.9COG2, LCAT, APOA1, APOC3, APOB, PPARA
39fenofibrate45 50 119.7LDLR, CETP, HMGCR, COG2, APOA1, APOA5
40cholesterol ester457.7COG2, LCAT, APOA1, LDLR, CETP, HMGCR
41gemfibrozil45 29 119.7CETP, HMGCR, LPL, LPA, PPARA, APOB
42estrogen457.7CETP, APOA2, LPL, LPA, PPARA, APOB
43bezafibrate45 29 119.7COG2, LCAT, APOA1, APOC3, APOA2, APOB
44glucose457.7PPARA, USF1, PNLIP, APOC2, LPA, APOA2
45heparin45 29 11 2410.6LDLR, CETP, COG2, LCAT, APOA5, APOC3
46serine457.6LCAT, APOA1, APOC3, APOA2, APOC2, PNLIP
47triacylglycerol457.6LDLR, COG2, LCAT, APOA1, APOA5, APOC3
48fatty acid457.4LPA, LPL, USF1, PNLIP, CETP, LDLR
49cholesterol45 29 11 249.7COG2, LCAT, APOA1, APOA5, APOC3, APOA2
50lipid456.6PPARA, LPA, LPL, USF1, PCSK9, HMGCR

GO Terms for genes affiliated with Familial Hyperlipidemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Hyperlipidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.9APOB, APOA1
2spherical high-density lipoprotein particleGO:0343669.7APOC2, APOA2, APOC3, APOA1
3low-density lipoprotein particleGO:0343629.7APOA5, APOC2, APOB, LDLR
4intermediate-density lipoprotein particleGO:0343639.6APOC3, APOC2, APOB
5high-density lipoprotein particleGO:0343649.5APOA5, LCAT, APOA1, CETP, APOA2
6chylomicronGO:0426279.4APOA5, LPL, APOC3, APOA2, APOC2, APOB
7very-low-density lipoprotein particleGO:0343619.1APOC2, LPL, APOB, APOA2, APOC3, APOA5
8early endosomeGO:0057699.0APOA1, APOC3, APOA2, APOC2, APOB, PCSK9
9extracellular spaceGO:0056158.4CETP, LCAT, APOA1, APOA5, APOC3, APOB
10extracellular regionGO:0055767.9APOA1, APOA5, APOA2, APOC2, APOC3, APOB

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

(show top 50)    (show all 63)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of very-low-density lipoprotein particle remodelingGO:01090210.5APOA5, APOC2
2negative regulation of lipid metabolic processGO:04583310.4APOC3, APOC2
3negative regulation of cholesterol importGO:06062110.4APOC3, APOA2
4chylomicron remodelingGO:03437110.4LPL, APOC2
5negative regulation of cholesterol transportGO:03237510.4APOA2, APOC2
6negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.4APOC2, APOC3
7negative regulation of low-density lipoprotein particle clearanceGO:01098910.4PCSK9, APOC3
8positive regulation of lipid catabolic processGO:05099610.4APOA5, APOA2
9triglyceride-rich lipoprotein particle remodelingGO:03437010.4APOA5, APOA2, APOC2
10negative regulation of lipase activityGO:06019210.3APOA2, APOA1
11lipoprotein catabolic processGO:04215910.3APOB, LDLR
12regulation of Cdc42 protein signal transductionGO:03248910.3APOA1, APOC3
13lipoprotein transportGO:04295310.2APOC3, APOC2, APOB
14triglyceride mobilizationGO:00664210.2APOC3, APOB
15regulation of intestinal cholesterol absorptionGO:03030010.2APOA2, APOA1
16negative regulation of receptor-mediated endocytosisGO:04826110.2APOC3, APOC2
17cholesterol importGO:07050810.2LDLR, APOA1
18low-density lipoprotein particle remodelingGO:03437410.2CETP, APOB, APOA2
19high-density lipoprotein particle assemblyGO:03438010.2APOA1, APOA2
20high-density lipoprotein particle clearanceGO:03438410.2APOC2, APOA2, APOA1
21protein oxidationGO:01815810.2APOA1, APOA2
22chylomicron remnant clearanceGO:03438210.2APOC3, APOC2
23negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA1, APOC3, APOA2
24phosphatidylcholine biosynthetic processGO:00665610.1APOA2, APOA1, LCAT
25negative regulation of cytokine secretion involved in immune responseGO:00274010.1APOA1, APOA2
26lipoprotein biosynthetic processGO:04215810.1LCAT, APOA1, APOB
27organ regenerationGO:03110010.1APOA1, APOA5, APOA2
28very-low-density lipoprotein particle remodelingGO:03437210.1LCAT, APOC2, LPL, CETP
29positive regulation of triglyceride catabolic processGO:01089810.0APOA5, APOC2
30triglyceride catabolic processGO:01943310.0APOA5, APOC3, APOB, LPL
31lipid transportGO:00686910.0APOA5, LPA, CETP
32phospholipid effluxGO:03370010.0APOC2, APOA2, APOC3, APOA1
33positive regulation of cholesterol storageGO:01088610.0LPL, APOB
34peptidyl-methionine modificationGO:01820610.0APOA1, APOA2
35receptor-mediated endocytosisGO:0068989.9APOB, LPA, CETP, LDLR
36cholesterol effluxGO:0333449.8APOA1, APOC3, APOA2, APOC2, APOB
37high-density lipoprotein particle remodelingGO:0343759.8LCAT, APOA1, APOC3, APOA2, CETP
38response to drugGO:0424939.7APOA1, APOC3, APOA2, APOC2, LPL
39triglyceride metabolic processGO:0066419.7APOA5, APOC3, APOA2, LPL, PCSK9, CETP
40positive regulation of cholesterol esterificationGO:0108739.7APOA2, APOA1
41cholesterol transportGO:0303019.6LCAT, APOA1, APOB, CETP, LDLR
42reverse cholesterol transportGO:0436919.6LCAT, APOA1, APOC3, APOA2, APOC2, CETP
43cellular lipid metabolic processGO:0442559.6APOA1, APOA5, APOA2, PPARA, HMGCR
44triglyceride homeostasisGO:0703289.6APOA1, APOA5, APOC3, APOC2, LPL, CETP
45cholesterol metabolic processGO:0082039.1LCAT, LDLR, CETP, PCSK9, APOB, APOA2
46retinoid metabolic processGO:0015238.9LDLR, PNLIP, LPL, APOB, APOC2, APOA2
47phototransduction, visible lightGO:0076038.9APOA1, APOC3, APOA2, APOC2, APOB, LPL
48cholesterol homeostasisGO:0426328.7APOA1, LCAT, APOA5, APOC3, APOA2, APOC2
49lipoprotein metabolic processGO:0421578.0APOC2, APOB, PPARA, LPA, LPL, PCSK9
50small molecule metabolic processGO:0442817.5APOC2, APOA2, APOC3, APOA5, APOA1, LCAT

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein lipase activator activityGO:06023010.3APOC2, APOA5
2triglyceride bindingGO:01712910.3CETP, LPL
3phosphatidylcholine bindingGO:03121010.2CETP, APOA2, APOA5
4low-density lipoprotein particle receptor bindingGO:05075010.2APOA5, APOB, PCSK9
5phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.1APOA1, APOA2
6apolipoprotein receptor bindingGO:03419010.1APOA1, APOA2, PCSK9
7phospholipid transporter activityGO:00554810.1CETP, APOA1
8apolipoprotein bindingGO:03418510.1PCSK9, LPL, LPA
9high-density lipoprotein particle receptor bindingGO:07065310.1APOA1, APOC3, APOA2
10high-density lipoprotein particle bindingGO:00803510.0APOA2, APOA1
11lipid transporter activityGO:00531910.0CETP, APOA2
12lipase inhibitor activityGO:0551029.9APOC2, APOA2, APOC3, APOA1
13triglyceride lipase activityGO:0048069.8PNLIP, LPL
14cholesterol bindingGO:0154859.8CETP, APOA2, APOC3, APOA1
15cholesterol transporter activityGO:0171279.8APOA1, APOA2, APOB, CETP
16heparin bindingGO:0082019.8LPL, LPA, APOB, APOA5
17lipid bindingGO:0082899.8APOA5, APOA2, APOC2, PPARA, CETP
18low-density lipoprotein particle bindingGO:0301699.7LDLR, PCSK9
19phospholipid bindingGO:0055439.6APOA1, APOA5, APOC3, APOA2, APOB
20enzyme bindingGO:0198999.6APOA1, APOA5, APOB, USF1
21protein bindingGO:0055157.1COG2, LCAT, APOA1, APOA5, APOA2, APOB

Products for genes affiliated with Familial Hyperlipidemia

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Sources for Familial Hyperlipidemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet