MCID: FML035
MIFTS: 51

Familial Hyperlipidemia

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Familial Hyperlipidemia

MalaCards integrated aliases for Familial Hyperlipidemia:

Name: Familial Hyperlipidemia 12 15 73
Familial Hyperlipoproteinemia 12 76 55 73
Hyperlipoproteinemias 44 73
Hyperlipidaemia 12 15
Hyperlipidemias 44
Hyperlipidemia 73
Hyperlipemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1168
ICD10 33 E78.5
SNOMED-CT 68 3744001 55822004

Summaries for Familial Hyperlipidemia

MalaCards based summary : Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to hyperlipidemia, combined, 1 and apolipoprotein c-ii deficiency. An important gene associated with Familial Hyperlipidemia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include heart, liver and pancreas, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 76 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

Related Diseases for Familial Hyperlipidemia

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 341)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, combined, 1 33.6 APOB APOC3 LIPC LPL
2 apolipoprotein c-ii deficiency 33.3 APOC2 LPL
3 glycogen storage disease ia 32.3 APOC2 INS LPL
4 hypercholesterolemia, autosomal dominant, type b 32.0 APOB APOE LDLR
5 familial lipoprotein lipase deficiency 31.7 APOC2 APOC3 LIPC LPL
6 hyperlipoproteinemia, type iv 31.7 APOB APOC2 APOC3 LPL
7 hyperlipidemia, familial combined 31.5 APOA1 APOB APOC2 APOC3 COG2 LPA
8 hyperlipoproteinemia, type iii 31.5 APOA1 APOB APOE CETP COG2 HMGCR
9 hyperlipoproteinemia, type v 31.3 APOA1 APOB APOC2 APOE HMGCR INS
10 ischemic heart disease 30.3 APOA1 APOB APOE LPL
11 hepatic lipase deficiency 30.2 APOA1 APOE LIPC LPL
12 hyperinsulinism 30.2 APOB INS SERPINE1
13 fish-eye disease 30.1 APOA1 LCAT
14 lipoprotein glomerulopathy 30.0 APOB APOE LCAT LDLR LPA
15 fatty liver disease, nonalcoholic 1 30.0 INS PPARA PRMT7
16 xanthoma disseminatum 30.0 APOB APOE
17 recurrent acute pancreatitis 30.0 APOE LPL
18 gallbladder disease 30.0 APOA1 APOB APOE CETP INS
19 glucose intolerance 29.9 APOB INS LPL
20 xanthomatosis 29.9 APOB APOE HMGCR LDLR LPA LPL
21 cerebral atherosclerosis 29.7 APOA1 APOE
22 sea-blue histiocyte disease 29.7 APOB APOE LCAT LDLR
23 hypercholesterolemia, familial 29.7 APOA1 APOB APOC2 APOC3 APOE CETP
24 nonalcoholic fatty liver disease 29.7 APOB INS PPARA
25 uremia 29.6 APOC3 INS LPL
26 niemann-pick disease, type b 29.6 APOA1 LCAT LPA
27 microvascular complications of diabetes 5 29.6 INS PON1 SERPINE1
28 defective apolipoprotein b-100 29.5 APOB APOE HMGCR LCAT LDLR
29 diabetes mellitus, insulin-dependent 29.5 APOA1 APOB INS LPA
30 tangier disease 29.3 APOA1 APOB APOE CETP LCAT LPA
31 hyperalphalipoproteinemia 1 29.2 APOA1 APOB APOC3 APOE CETP LCAT
32 coronary stenosis 29.1 APOA1 APOB APOE CETP PON1 SERPINE1
33 chronic kidney failure 29.1 APOB HMGCR INS LPA PON1
34 kidney disease 29.0 APOC3 APOE HMGCR INS LCAT LPA
35 cerebrovascular disease 29.0 APOA1 APOB APOE INS LDLR PON1
36 hypertriglyceridemia, familial 28.9 APOA1 APOB APOC2 APOC3 APOE CETP
37 coronary artery anomaly 28.8 APOA1 APOB CETP COG2 HMGCR LPA
38 stroke, ischemic 28.8 APOB APOE COG2 HMGCR LPA PON1
39 hypertension, essential 28.8 APOA1 APOB GBA INS LPA LPL
40 heart disease 28.8 APOA1 APOB APOC3 APOE INS LDLR
41 arteries, anomalies of 28.7 APOA1 APOB APOE CETP COG2 INS
42 vascular disease 28.6 APOA1 APOB APOE CETP HMGCR INS
43 atherosclerosis susceptibility 28.6 APOA1 APOB APOE CETP INS LDLR
44 arteriosclerosis 28.4 APOA1 APOB APOE COG2 HMGCR INS
45 diabetes mellitus 28.3 APOA1 APOB COG2 HMGCR INS LIPC
46 myocardial infarction 27.9 APOA1 APOB APOC3 APOE CETP COG2
47 lipid metabolism disorder 27.8 APOA1 APOB APOC3 APOE CETP COG2
48 coronary heart disease 1 27.4 APOA1 APOB APOC3 APOE CETP COG2
49 body mass index quantitative trait locus 11 27.4 APOA1 APOB APOC3 APOE CETP COG2
50 diabetes mellitus, noninsulin-dependent 27.2 APOA1 APOB APOC2 APOC3 APOE CETP

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



Diseases related to Familial Hyperlipidemia

Symptoms & Phenotypes for Familial Hyperlipidemia

GenomeRNAi Phenotypes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.65 APOA1 APOB APOC3 APOE CETP HMGCR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Familial Hyperlipidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 APOA1 APOB APOE GBA INS LCAT
2 homeostasis/metabolism MP:0005376 10.06 APOA1 APOB APOC2 APOE COG2 GBA
3 growth/size/body region MP:0005378 10 APOB APOE COG2 GBA HMGCR INS
4 endocrine/exocrine gland MP:0005379 9.92 APOA1 APOE GBA INS LCAT LDLR
5 adipose tissue MP:0005375 9.88 APOE INS LDLR LPL PPARA SERPINE1
6 integument MP:0010771 9.56 APOA1 APOE GBA INS LDLR LPL
7 liver/biliary system MP:0005370 9.4 APOA1 APOB APOE GBA HMGCR INS

Drugs & Therapeutics for Familial Hyperlipidemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inflammatory Aspects of Glucose in Hyperlipidemia and Diabetes Completed NCT02130505 Not Applicable

Search NIH Clinical Center for Familial Hyperlipidemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hyperlipidemias

Genetic Tests for Familial Hyperlipidemia

Anatomical Context for Familial Hyperlipidemia

MalaCards organs/tissues related to Familial Hyperlipidemia:

41
Heart, Liver, Pancreas, Brain, Kidney, Prostate, T Cells

Publications for Familial Hyperlipidemia

Articles related to Familial Hyperlipidemia:

(show top 50) (show all 59)
# Title Authors Year
1
Familial Hyperlipidemia Type 2a ( 29489287 )
2018
2
Insulin resistance in children with familial hyperlipidemia. ( 30433876 )
2018
3
Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy. ( 29142480 )
2017
4
Comparison of carotid intima-media thickness in pediatric patients with metabolic syndrome, heterozygous familial hyperlipidemia and normals. ( 24955251 )
2014
5
Stress perfusion-fibrosis cardiac magnetic resonance detects early heart involvement in young asymptomatic, homozygous familial hyperlipidemia with normal routine non-invasive evaluation. ( 23896536 )
2013
6
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. ( 22531366 )
2013
7
Novel pharmacotherapies of familial hyperlipidemia. ( 23639874 )
2013
8
An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. ( 24426212 )
2013
9
Supravalvular aortic stenosis secondary to severe lipid accumulation in the ascending aorta in a patient with uncontrolled familial hyperlipidemia. ( 21918328 )
2011
10
Diffuse involvement of aorta in patient with familial hyperlipidemia. ( 22347657 )
2011
11
Antihyperlipidemic agents cause a decrease in von Willebrand factor levels in pediatric patients with familial hyperlipidemia. ( 21073119 )
2010
12
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. ( 17097797 )
2008
13
Association between physical activity, adiposity, and lipid abnormalities in children with familial hyperlipidemia. ( 17301628 )
2007
14
Safety and tolerability of long lasting LDL-apheresis in familial hyperlipoproteinemia. ( 17309569 )
2007
15
[Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. ( 15854507 )
2005
16
Apolipoprotein B as a marker of familial hyperlipoproteinemia. ( 15557711 )
2004
17
Micro- and macrocirculatory effects of apheresis in patients with familial hyperlipidemia. ( 12921126 )
2003
18
A randomized crossover trial of combination pharmacologic therapy in children with familial hyperlipidemia. ( 12032266 )
2002
19
[Favorable effect of treatment with statins on the intima of the common carotid artery in patients with familial hyperlipoproteinemia]. ( 9441006 )
1997
20
[Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. ( 9547191 )
1997
21
Atypical pyloric stenosis in an infant with familial hyperlipidemia. ( 8657477 )
1996
22
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. ( 7839978 )
1995
23
[Biochemical and functional study of the liver during treatment of familial hyperlipoproteinemia with Mevacor (lovastatin) and Vasosan S (cholestyramine)]. ( 7882060 )
1994
24
Adult cardiologists or hyperlipidemia experts have advocated no screening and no treatment for children with familial hyperlipidemia. ( 8435922 )
1993
25
LDL- and agonist-induced Ca(2+)-mobilization in platelets of healthy subjects and in patients with familial hyperlipoproteinemia type II. ( 2063348 )
1991
26
Frequency and role of apo E phenotype in familial hypercholesterolemia and non-familial hyperlipidemia in the Japanese. ( 2375785 )
1990
27
Familial hyperlipidemia in stroke in the young. ( 3810712 )
1986
28
Lipid storage myopathy in familial hyperlipoproteinemia. ( 6721723 )
1984
29
Familial hyperlipidemia in coronary atherosclerotic heart disease. ( 6619068 )
1983
30
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
31
Diabetes mellitus in familial hyperlipoproteinemia. ( 6393440 )
1983
32
Emotional implications of primary familial hyperlipoproteinemia in childhood and adolescence. ( 7360532 )
1980
33
Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3. ( 215348 )
1979
34
Familial hyperlipoproteinemia showing an interconversion between type III and V linked with a trait of xeroderma pigmentosum. ( 232901 )
1979
35
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. ( 578151 )
1977
36
Familial hyperlipoproteinemia in beagles. ( 66623 )
1977
37
Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism. ( 975887 )
1976
38
Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism. ( 1024622 )
1976
39
Familial hyperlipoproteinemia type III: deficiency of a specific apolipoprotein (apo E-III) in the very-low-density lipoproteins. ( 169165 )
1975
40
Familial hyperlipoproteinemia in a South Indian family. ( 172484 )
1975
41
Lipids and lipoproteins of serum and organ tissues in a case of familial hyperlipoproteinemia type II. ( 180310 )
1975
42
Familial hyperlipoproteinemia and gallstones. ( 803123 )
1975
43
Editorial: Familial hyperlipoproteinemia. ( 4405866 )
1974
44
Mediastinal xanthoma with familial hyperlipoproteinemia. ( 4352164 )
1973
45
Familial hyperlipoproteinemia and thyroid dysfunction of beagles. ( 4357899 )
1973
46
Familial hyperlipoproteinemia in an isolated part of Newfoundland. ( 4682640 )
1973
47
Familial hyperlipoproteinemia in an isolated part of Newfoundland. ( 4750306 )
1973
48
Evidence for the identity of the major apoprotein in low density and very low density lipoproteins in normal subjects and patients with familial hyperlipoproteinemia. ( 4336942 )
1972
49
Effects of oxandrolone on plasma triglycerides and postheparin lipolytic activity in patients with types 3, IV, and V familial hyperlipoproteinemia. ( 5090133 )
1971
50
Heterogeneity on familial hyperlipoproteinemia type II on the basis of fasting plasma triglyceride-cholesterol ratio and plasma cholesterol response to ethyl p-chlorophenoxyisobutyrate. ( 5135408 )
1971

Variations for Familial Hyperlipidemia

ClinVar genetic disease variations for Familial Hyperlipidemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 GRCh37 Chromosome 1, 155206167: 155206167
2 GBA NM_001005741.2(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 GRCh38 Chromosome 1, 155236376: 155236376
3 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh37 Chromosome 16, 68363008: 68363008
4 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh38 Chromosome 16, 68329105: 68329105
5 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68389688: 68389688
6 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68355785: 68355785

Expression for Familial Hyperlipidemia

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for Familial Hyperlipidemia

Pathways related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 APOA1 APOB APOC2 APOC3 APOE CETP
2
Show member pathways
12.52 APOA1 APOB APOC2 APOC3 APOE LDLR
3
Show member pathways
12.23 APOA1 APOB APOC2 APOC3 APOE CETP
4
Show member pathways
12.13 APOA1 APOB APOE INS LDLR SERPINE1
5
Show member pathways
12.03 APOA1 APOB APOC2 APOC3 APOE LDLR
6 11.92 INS LPL PPARA SERPINE1
7
Show member pathways
11.7 APOA1 APOB APOE
8 11.6 APOA1 APOC3 LPL PPARA
9 11.57 HMGCR INS LDLR LPL
10
Show member pathways
11.47 APOA1 APOB APOC2 APOC3 APOE CETP
11 11.07 APOA1 APOC3 PPARA
12 10.91 HMGCR LDLR PPARA

GO Terms for Familial Hyperlipidemia

Cellular components related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.93 APOA1 APOB APOC2 APOC3 APOE LDLR
2 endoplasmic reticulum lumen GO:0005788 9.89 APOA1 APOB APOE INS LIPC
3 collagen-containing extracellular matrix GO:0062023 9.85 APOA1 APOC3 APOE SERPINE1
4 very-low-density lipoprotein particle GO:0034361 9.73 APOA1 APOB APOC2 APOC3 APOE LPL
5 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
6 spherical high-density lipoprotein particle GO:0034366 9.71 APOA1 APOC2 APOC3 PON1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 endosome lumen GO:0031904 9.56 APOB INS
10 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
11 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
12 chylomicron GO:0042627 9.43 APOA1 APOB APOC2 APOC3 APOE LPL
13 high-density lipoprotein particle GO:0034364 9.17 APOA1 APOC2 APOE CETP LCAT LIPC
14 extracellular region GO:0005576 10.25 APOA1 APOB APOC2 APOC3 APOE CETP
15 extracellular exosome GO:0070062 10.19 APOA1 APOB APOC3 APOE CETP GBA
16 extracellular space GO:0005615 10.18 APOA1 APOB APOC2 APOC3 APOE CETP

Biological processes related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 cholesterol transport GO:0030301 9.99 APOA1 APOB CETP LCAT LDLR LIPC
2 cholesterol efflux GO:0033344 9.97 APOA1 APOB APOC2 APOC3 APOE
3 triglyceride catabolic process GO:0019433 9.97 APOA1 APOB APOC3 APOE LIPC LPL
4 low-density lipoprotein particle remodeling GO:0034374 9.95 APOB APOE CETP LIPC LPA
5 lipoprotein metabolic process GO:0042157 9.95 APOA1 APOB APOC3 APOE LDLR PPARA
6 negative regulation of inflammatory response GO:0050728 9.94 APOA1 APOE GBA PPARA
7 chylomicron assembly GO:0034378 9.93 APOA1 APOB APOC2 APOC3 APOE
8 triglyceride metabolic process GO:0006641 9.91 APOC3 APOE CETP LPL
9 regulation of lipid metabolic process GO:0019216 9.9 APOA1 HMGCR PPARA
10 positive regulation of inflammatory response GO:0050729 9.89 LDLR LPL SERPINE1
11 phospholipid efflux GO:0033700 9.89 APOA1 APOC2 APOC3 APOE
12 phospholipid metabolic process GO:0006644 9.88 APOA1 LCAT LPL
13 high-density lipoprotein particle clearance GO:0034384 9.88 APOA1 APOC2 APOE LDLR
14 lipoprotein biosynthetic process GO:0042158 9.88 APOA1 APOB APOE LCAT
15 high-density lipoprotein particle remodeling GO:0034375 9.87 APOA1 APOC2 APOC3 APOE CETP LCAT
16 negative regulation of neuron death GO:1901215 9.86 APOE GBA PPARA
17 phospholipid transport GO:0015914 9.85 APOA1 CETP LDLR
18 cholesterol biosynthetic process GO:0006695 9.83 APOA1 APOE HMGCR
19 negative regulation of MAP kinase activity GO:0043407 9.83 APOE GBA HMGCR
20 positive regulation of lipid biosynthetic process GO:0046889 9.81 APOA1 APOE INS
21 phosphatidylcholine metabolic process GO:0046470 9.81 CETP LCAT PON1
22 regulation of protein metabolic process GO:0051246 9.8 APOE GBA LDLR
23 reverse cholesterol transport GO:0043691 9.8 APOA1 APOC2 APOC3 APOE CETP LCAT
24 regulation of Cdc42 protein signal transduction GO:0032489 9.79 APOA1 APOC3 APOE
25 lipoprotein catabolic process GO:0042159 9.78 APOB APOE LDLR
26 positive regulation of nitric-oxide synthase activity GO:0051000 9.73 APOE INS
27 negative regulation of lipid catabolic process GO:0050995 9.73 APOC3 INS
28 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
29 fatty acid homeostasis GO:0055089 9.73 APOE INS
30 negative regulation of blood coagulation GO:0030195 9.73 APOE SERPINE1
31 positive regulation of cholesterol efflux GO:0010875 9.73 APOE PON1
32 negative regulation of wound healing GO:0061045 9.72 HMGCR SERPINE1
33 regulation of cholesterol metabolic process GO:0090181 9.72 APOE LDLR
34 high-density lipoprotein particle assembly GO:0034380 9.72 APOA1 APOE
35 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.72 CETP PPARA
36 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
37 negative regulation of blood vessel diameter GO:0097756 9.71 HMGCR INS
38 phospholipid homeostasis GO:0055091 9.71 APOA1 CETP
39 positive regulation of cholesterol esterification GO:0010873 9.7 APOA1 APOE
40 regulation of lipoprotein lipase activity GO:0051004 9.7 LIPC LPL
41 very-low-density lipoprotein particle remodeling GO:0034372 9.7 APOA1 APOC2 APOE CETP LCAT LIPC
42 positive regulation of cholesterol storage GO:0010886 9.69 APOB LPL
43 regulation of cholesterol transport GO:0032374 9.69 APOA1 APOE
44 cholesterol import GO:0070508 9.68 APOA1 LDLR
45 negative regulation of cellular protein metabolic process GO:0032269 9.68 APOE GBA
46 negative regulation of receptor-mediated endocytosis GO:0048261 9.68 APOC2 APOC3
47 very-low-density lipoprotein particle clearance GO:0034447 9.68 APOB APOE
48 negative regulation of lipid metabolic process GO:0045833 9.67 APOC2 APOC3
49 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.67 APOC2 APOC3
50 positive regulation of dendritic spine maintenance GO:1902952 9.66 APOE INS

Molecular functions related to Familial Hyperlipidemia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.8 APOB APOE LIPC LPA LPL
2 phospholipid binding GO:0005543 9.72 APOA1 APOB APOC3 APOE PON1
3 protease binding GO:0002020 9.71 INS LDLR SERPINE1
4 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
5 cholesterol binding GO:0015485 9.67 APOA1 APOC3 APOE CETP
6 apolipoprotein binding GO:0034185 9.61 LIPC LPA LPL
7 triglyceride lipase activity GO:0004806 9.58 LIPC LPL
8 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
9 phospholipid transporter activity GO:0005548 9.57 APOA1 CETP
10 low-density lipoprotein particle binding GO:0030169 9.56 LDLR LIPC
11 phospholipase activity GO:0004620 9.55 LIPC LPL
12 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
13 lipid binding GO:0008289 9.5 APOA1 APOB APOC2 APOC3 APOE CETP
14 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.49 APOA1 APOE
15 high-density lipoprotein particle receptor binding GO:0070653 9.48 APOA1 APOC3
16 triglyceride binding GO:0017129 9.46 CETP LPL
17 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
18 lipase inhibitor activity GO:0055102 9.43 APOA1 APOC2 APOC3
19 cholesterol transporter activity GO:0017127 8.92 APOA1 APOB APOE CETP

Sources for Familial Hyperlipidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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