MCID: HYP732
MIFTS: 52

Hyperalphalipoproteinemia 1

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperalphalipoproteinemia 1

MalaCards integrated aliases for Hyperalphalipoproteinemia 1:

Name: Hyperalphalipoproteinemia 1 53 71 69
Hyperalphalipoproteinemia 53 36 28 13 51
Cetp Deficiency 53 71 51
Cholesteryl Ester Transfer Protein Deficiency 71 69
Familial Hyperalphalipoproteinemia 55 69
Halp1 53 71
Cholesterol Ester Transfer Protein Deficiency 53
Cholesterol-Ester Transfer Protein Deficiency 55
Cept Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
cholesterol-ester transfer protein deficiency
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
heterozygous mutation present in 5-7% of the japanese population


HPO:

31
hyperalphalipoproteinemia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 143470
Orphanet 55 ORPHA79506
UMLS via Orphanet 70 C0342883
ICD10 via Orphanet 33 E78.4
MeSH 41 D006951
KEGG 36 H01199

Summaries for Hyperalphalipoproteinemia 1

UniProtKB/Swiss-Prot : 71 Hyperalphalipoproteinemia 1: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.

MalaCards based summary : Hyperalphalipoproteinemia 1, also known as hyperalphalipoproteinemia, is related to hyperlipidemia, familial combined and arteries, anomalies of, and has symptoms including hyperlipidemia, hypercholesterolemia and hypotriglyceridemia. An important gene associated with Hyperalphalipoproteinemia 1 is CETP (Cholesteryl Ester Transfer Protein), and among its related pathways/superpathways are PPAR signaling pathway and Metabolism. The drugs Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Related phenotypes are Decreased free cholesterol and Increased LDL uptake

Description from OMIM: 143470

Related Diseases for Hyperalphalipoproteinemia 1

Diseases related to Hyperalphalipoproteinemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 hyperlipidemia, familial combined 28.3 APOA1 APOB APOC3 APOE LPL
2 arteries, anomalies of 28.3 ABCA1 APOA1 APOB APOE CETP LDLR
3 hypertriglyceridemia, familial 27.7 APOA1 APOB APOC3 APOE CETP LIPC
4 coronary heart disease 1 26.5 APOA1 APOA2 APOB APOC3 APOE CETP
5 coronary artery anomaly 26.3 ABCA1 APOA1 APOA2 APOB APOC3 APOE
6 hypercholesterolemia, familial 26.0 ABCA1 APOA1 APOA2 APOB APOC3 APOE
7 hypoalphalipoproteinemia, primary 26.0 ABCA1 APOA1 APOA2 APOB APOC3 CETP
8 apolipoprotein c-iii deficiency 11.8
9 apo a-i deficiency 10.3 APOA1 LCAT
10 hepatitis 10.2
11 generalized atherosclerosis 10.2 APOE PLTP
12 sea-blue histiocyte disease 10.1 APOE LCAT
13 cerebral atherosclerosis 10.1 APOA1 APOE
14 hereditary amyloidosis 10.1 APOA1 APOA2
15 amyloidosis aa 10.1 APOA1 LCAT
16 dysbaric osteonecrosis 10.1 APOA1 APOB
17 fish-eye disease 10.1 APOA1 APOA2 LCAT
18 xanthoma disseminatum 10.0 APOB APOE
19 hypercholesterolemia, autosomal dominant, 3 10.0
20 lipase deficiency, combined 10.0 LIPC LPL
21 fetal macrosomia 10.0 APOA1 APOB LCAT
22 blood group, i system 9.9
23 heart disease 9.9
24 familial lipoprotein lipase deficiency 9.9 LIPC LPL
25 lipomatosis, multiple symmetric 9.8
26 aging 9.8
27 hypertriglyceridemia, transient infantile 9.8
28 multiple symmetrical lipomatosis 9.8
29 lipomatosis 9.8
30 carotid artery disease 9.8 APOA1 APOB APOE
31 schnyder corneal dystrophy 9.8 APOA2 APOB APOE
32 hyperlipoproteinemia, type v 9.8 APOE LPL
33 vitamin e, familial isolated deficiency of 9.8 ABCA1 APOA1 APOB
34 hypercholesterolemia, autosomal dominant, type b 9.7 APOB APOE LDLR
35 chylomicron retention disease 9.7 APOA1 APOB
36 arteriosclerosis 9.7 APOA1 APOB APOE
37 familial lcat deficiency 9.7 APOA1 APOA2 APOE LCAT
38 recurrent acute pancreatitis 9.7 APOE LPL
39 coronary stenosis 9.7 APOA1 APOB APOE CETP
40 gallbladder disease 9.7 APOA1 APOB APOE CETP
41 smith-lemli-opitz syndrome 9.6 ABCA1 APOE LDLR
42 leukodystrophy, hypomyelinating, 3 9.6 APOA1 APOA2 APOB APOE
43 defective apolipoprotein b-100 9.5 APOB APOE LCAT LDLR
44 hepatitis c virus 9.5 APOE LDLR SCARB1
45 aortic atherosclerosis 9.5 ABCA1 APOE CETP LDLR
46 cerebrovascular disease 9.5 APOA1 APOB APOE LDLR
47 hepatic lipase deficiency 9.4 APOA1 APOE LIPC LPL
48 macular degeneration, age-related, 1 9.4 ABCA1 APOB APOE LIPC
49 hypobetalipoproteinemia, familial, 1 9.3 APOA1 APOB APOE LCAT LDLR
50 ischemic heart disease 9.2 APOA1 APOB APOE LPL

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia 1:



Diseases related to Hyperalphalipoproteinemia 1

Symptoms & Phenotypes for Hyperalphalipoproteinemia 1

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
cholesteryl ester transfer protein deficiency
elevated hdl (2-6x normal) in homozygotes
mildly elevated hdl in heterozygotes
elevated apoa-i (1.8x normal) in homozygotes
normal apoa-ii levels in homozygotes


Clinical features from OMIM:

143470

Human phenotypes related to Hyperalphalipoproteinemia 1:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 55 31 obligate (100%) Obligate (100%) HP:0003077
2 hypercholesterolemia 55 31 obligate (100%) Obligate (100%) HP:0003124
3 hypotriglyceridemia 55 31 frequent (33%) Frequent (79-30%) HP:0012153
4 precocious atherosclerosis 55 Excluded (0%)
5 hyperalphalipoproteinemia 55 Obligate (100%)
6 hyperlipoproteinemia 55 Obligate (100%)
7 tendon xanthomatosis 55 Excluded (0%)
8 increased circulating high-density lipoprotein levels 31 obligate (100%) HP:0012184

GenomeRNAi Phenotypes related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.65 ABCA1 APOA1 APOB APOC3 APOE CETP
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hyperalphalipoproteinemia 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCA1 LDLR APOA1 LIPC APOA2 LPL
2 cardiovascular system MP:0005385 10.01 LCAT ABCA1 LDLR APOA1 LPL APOB
3 endocrine/exocrine gland MP:0005379 9.91 LCAT ABCA1 LDLR LIPC APOA1 SCARB1
4 liver/biliary system MP:0005370 9.86 ABCA1 LDLR APOA1 LPL APOB SCARB1
5 muscle MP:0005369 9.63 ABCA1 LDLR LPL APOB SCARB1 APOE
6 pigmentation MP:0001186 9.26 ABCA1 LDLR APOB APOE
7 vision/eye MP:0005391 9.1 LCAT ABCA1 LDLR PLTP APOB APOE

Drugs & Therapeutics for Hyperalphalipoproteinemia 1

Drugs for Hyperalphalipoproteinemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relationship Between CETP Deficiency and Atherosclerosis in Patients With Hyperalphalipoproteinemia Unknown status NCT01916512
2 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Hyperalphalipoproteinemia 1

Genetic Tests for Hyperalphalipoproteinemia 1

Genetic tests related to Hyperalphalipoproteinemia 1:

# Genetic test Affiliating Genes
1 Hyperalphalipoproteinemia 28 CETP

Anatomical Context for Hyperalphalipoproteinemia 1

Publications for Hyperalphalipoproteinemia 1

Articles related to Hyperalphalipoproteinemia 1:

(show top 50) (show all 82)
# Title Authors Year
1
Paradoxical coronary artery disease in humans with hyperalphalipoproteinemia is associated with distinct differences in the high-density lipoprotein phosphosphingolipidome. ( 28826666 )
2017
2
Defective triglyceride biosynthesis in CETP-deficient SW872 cells. ( 26203075 )
2015
3
Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia. ( 24680225 )
2014
4
Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia. ( 24674903 )
2014
5
Disease-associated marked hyperalphalipoproteinemia. ( 27896098 )
2014
6
eNOS activation by HDL is impaired in genetic CETP deficiency. ( 24830642 )
2014
7
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. ( 23219720 )
2013
8
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. ( 22464213 )
2012
9
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency. ( 22339301 )
2012
10
High-density lipoprotein (HDL) particle subpopulations in heterozygous cholesteryl ester transfer protein (CETP) deficiency: maintenance of antioxidative activity. ( 23189141 )
2012
11
CETP deficiency due to a novel mutation in the CETP gene promoter and its effect on cholesterol efflux and selective uptake into hepatocytes. ( 21354572 )
2011
12
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. ( 18926541 )
2009
13
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. ( 19428034 )
2009
14
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred. ( 19200546 )
2009
15
Cholesterol efflux from J774 macrophages and Fu5AH hepatoma cells to serum is preserved in CETP-deficient patients. ( 19135042 )
2009
16
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. ( 19158204 )
2009
17
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. ( 18160998 )
2008
18
Decreased post-prandial triglyceride response and diminished remnant lipoprotein formation in cholesteryl ester transfer protein (CETP) deficiency. ( 17399717 )
2008
19
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. ( 19013296 )
2008
20
[CETP deficiency]. ( 17824055 )
2007
21
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. ( 17192423 )
2007
22
Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor. ( 16384559 )
2006
23
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. ( 16650090 )
2006
24
HDL from CETP-deficient subjects shows enhanced ability to promote cholesterol efflux from macrophages in an apoE- and ABCG1-dependent pathway. ( 16670775 )
2006
25
The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. ( 16855848 )
2006
26
Antioxidative activity of HDL particle subspecies is impaired in hyperalphalipoproteinemia: relevance of enzymatic and physicochemical properties. ( 14739123 )
2004
27
Plasma C-reactive protein in subjects with hypo/hyperalphalipoproteinemias. ( 12701054 )
2003
28
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. ( 12482565 )
2003
29
Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia. ( 12177167 )
2002
30
A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia. ( 11887180 )
2002
31
ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice. ( 11457883 )
2001
32
Elevated hepatic apolipoprotein A-I transcription is associated with diet-induced hyperalphalipoproteinemia in rabbits. ( 10809165 )
2000
33
Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia. ( 10998455 )
2000
34
The Arg123-Tyr166 central domain of human ApoAI is critical for lecithin:cholesterol acyltransferase-induced hyperalphalipoproteinemia and HDL remodeling in transgenic mice. ( 10669644 )
2000
35
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. ( 10606208 )
1999
36
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. ( 9555865 )
1998
37
Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a Caucasian subject from North America. ( 9508004 )
1998
38
Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia. ( 9751249 )
1998
39
Is cholesteryl ester transfer protein (CETP) deficiency atherogenic in familial hypercholesterolemia. ( 9678678 )
1998
40
Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity. ( 9711993 )
1998
41
Cholesteryl ester transfer protein activity enhances plasma cholesteryl ester formation. Studies in CETP transgenic mice and human genetic CETP deficiency. ( 9194753 )
1997
42
Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. ( 9194754 )
1997
43
Hyperalphalipoproteinemia and prostaglandin I2 stability. ( 9336872 )
1997
44
[Serum apolipoprotein E-rich HDL-C levels in the subjects with hyperalphalipoproteinemia]. ( 9311266 )
1997
45
Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner. ( 8621767 )
1996
46
[Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. ( 8847813 )
1996
47
[Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency), and coronary heart disease]. ( 7739114 )
1995
48
Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency) and coronary heart disease. ( 7695176 )
1995
49
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. ( 7583564 )
1995
50
Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. ( 7744879 )
1995

Variations for Hyperalphalipoproteinemia 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia 1:

71
# Symbol AA change Variation ID SNP ID
1 CETP p.Asp459Gly VAR_004172 rs2303790
2 CETP p.Leu168Pro VAR_033099
3 CETP p.Arg299Cys VAR_033100 rs142459781

ClinVar genetic disease variations for Hyperalphalipoproteinemia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CETP CETP, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
2 CETP CETP, 1-BP INS, T, IVS14, +3 insertion Pathogenic

Expression for Hyperalphalipoproteinemia 1

Search GEO for disease gene expression data for Hyperalphalipoproteinemia 1.

Pathways for Hyperalphalipoproteinemia 1

Pathways related to Hyperalphalipoproteinemia 1 according to KEGG:

36
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320

Pathways related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ABCA1 APOA1 APOA2 APOB APOC3 APOE
2
Show member pathways
12.52 APOA1 APOA2 APOB APOC3 APOE LDLR
3
Show member pathways
12.3 ABCA1 APOA1 APOA2 APOB APOC3 APOE
4
Show member pathways
12.22 ABCA1 APOA1 APOB APOE LDLR SCARB1
5
Show member pathways
12.03 APOA1 APOA2 APOB APOC3 APOE LDLR
6
Show member pathways
11.81 APOA1 APOB APOE SCARB1
7 11.58 APOA1 APOA2 APOC3 LPL PLTP
8 11.56 LDLR LPL SCARB1
9
Show member pathways
11.51 ABCA1 APOA1 APOA2 APOB APOC3 APOE
10
Show member pathways
11.4 ABCA1 APOA1 APOB SCARB1
11 11.15 APOA1 APOA2 APOC3 PLTP
12 11.07 APOA1 APOB SCARB1
13 11.06 APOE LDLR
14 10.93 ABCA1 CETP
15 10.93 ABCA1 APOA1 APOA2
16 10.82 ABCA1 LDLR

GO Terms for Hyperalphalipoproteinemia 1

Cellular components related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.95 ABCA1 APOA1 LDLR LPL SCARB1
2 endoplasmic reticulum lumen GO:0005788 9.89 APOA1 APOA2 APOB APOE LIPC
3 early endosome GO:0005769 9.88 APOA1 APOA2 APOB APOC3 APOE LDLR
4 extracellular matrix GO:0031012 9.86 APOA1 APOC3 APOE LPL
5 blood microparticle GO:0072562 9.74 APOA1 APOA2 APOE
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.7 APOB APOE LDLR
7 low-density lipoprotein particle GO:0034362 9.67 APOA1 APOB APOE LDLR
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA2 APOB APOC3 APOE LPL
10 spherical high-density lipoprotein particle GO:0034366 9.61 APOA1 APOA2 APOC3
11 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC3 APOE
12 discoidal high-density lipoprotein particle GO:0034365 9.51 APOA1 APOE
13 chylomicron GO:0042627 9.43 APOA1 APOA2 APOB APOC3 APOE LPL
14 high-density lipoprotein particle GO:0034364 9.23 ABCA1 APOA1 APOA2 APOE CETP LCAT
15 extracellular exosome GO:0070062 10.19 APOA1 APOA2 APOB APOC3 APOE CETP
16 extracellular region GO:0005576 10.16 APOA1 APOA2 APOB APOC3 APOE CETP
17 extracellular space GO:0005615 10.06 APOA1 APOA2 APOB APOC3 APOE CETP

Biological processes related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 low-density lipoprotein particle remodeling GO:0034374 9.98 APOA2 APOB APOE CETP LIPC
2 lipid catabolic process GO:0016042 9.97 APOB APOC3 LIPC LPL
3 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOC3 APOE
4 high-density lipoprotein particle remodeling GO:0034375 9.97 APOA1 APOA2 APOC3 APOE CETP LCAT
5 chylomicron assembly GO:0034378 9.96 APOA1 APOA2 APOB APOC3 APOE
6 chylomicron remnant clearance GO:0034382 9.95 APOB APOC3 APOE LDLR LIPC
7 very-low-density lipoprotein particle remodeling GO:0034372 9.93 APOE CETP LCAT LIPC LPL
8 high-density lipoprotein particle assembly GO:0034380 9.92 ABCA1 APOA1 APOA2 APOE
9 high-density lipoprotein particle clearance GO:0034384 9.91 APOA1 APOA2 APOE SCARB1
10 regulation of Cdc42 protein signal transduction GO:0032489 9.91 ABCA1 APOA1 APOC3 APOE
11 lipoprotein biosynthetic process GO:0042158 9.91 ABCA1 APOA1 APOB APOE LCAT
12 regulation of lipid metabolic process GO:0019216 9.89 ABCA1 APOA1 APOA2
13 phospholipid metabolic process GO:0006644 9.88 APOA1 LCAT LPL
14 phosphatidylcholine biosynthetic process GO:0006656 9.86 APOA1 APOA2 LCAT
15 low-density lipoprotein particle clearance GO:0034383 9.84 APOB LDLR SCARB1
16 positive regulation of cholesterol efflux GO:0010875 9.84 ABCA1 APOE PLTP
17 phospholipid homeostasis GO:0055091 9.83 ABCA1 APOA1 CETP
18 positive regulation of cholesterol esterification GO:0010873 9.82 APOA1 APOA2 APOE
19 positive regulation of cholesterol storage GO:0010886 9.82 APOB LPL SCARB1
20 cholesterol import GO:0070508 9.81 APOA1 LDLR SCARB1
21 lipoprotein catabolic process GO:0042159 9.81 APOB APOE LDLR
22 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.8 APOA1 APOA2 APOC3
23 lipoprotein metabolic process GO:0042157 9.8 ABCA1 APOA1 APOA2 APOB APOC3 APOE
24 long-term memory GO:0007616 9.74 APOE LDLR
25 lipid homeostasis GO:0055088 9.74 APOE CETP
26 artery morphogenesis GO:0048844 9.74 APOB APOE
27 positive regulation of endocytosis GO:0045807 9.74 APOE LDLR
28 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 ABCA1 LDLR
29 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 APOE SCARB1
30 negative regulation of lipid catabolic process GO:0050995 9.74 APOA2 APOC3
31 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
32 endothelial cell proliferation GO:0001935 9.73 APOA1 SCARB1
33 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
34 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
35 regulation of cholesterol metabolic process GO:0090181 9.72 APOE LDLR
36 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
37 cholesterol catabolic process GO:0006707 9.72 APOE SCARB1
38 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
39 positive regulation of triglyceride biosynthetic process GO:0010867 9.72 LDLR SCARB1
40 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
41 blood vessel endothelial cell migration GO:0043534 9.71 APOA1 SCARB1
42 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
43 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
44 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
45 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
46 cholesterol efflux GO:0033344 9.7 ABCA1 APOA1 APOA2 APOB APOC3 APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
48 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
49 protein oxidation GO:0018158 9.69 APOA1 APOA2
50 regulation of high-density lipoprotein particle assembly GO:0090107 9.68 ABCA1 LCAT

Molecular functions related to Hyperalphalipoproteinemia 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.88 APOB APOE LIPC LPL
2 lipid binding GO:0008289 9.87 APOA1 APOA2 APOB APOC3 APOE CETP
3 amyloid-beta binding GO:0001540 9.84 APOA1 APOE LDLR SCARB1
4 phosphatidylcholine binding GO:0031210 9.76 APOA1 APOA2 CETP PLTP
5 phospholipid binding GO:0005543 9.73 ABCA1 APOA1 APOA2 APOB APOC3 APOE
6 low-density lipoprotein particle binding GO:0030169 9.72 LDLR LIPC SCARB1
7 phospholipid transporter activity GO:0005548 9.71 ABCA1 APOA1 CETP PLTP
8 high-density lipoprotein particle binding GO:0008035 9.7 APOA1 APOA2 SCARB1
9 lipase inhibitor activity GO:0055102 9.69 APOA1 APOA2 APOC3
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.67 APOA1 APOA2 APOE
11 apolipoprotein binding GO:0034185 9.67 ABCA1 LIPC LPL SCARB1
12 apolipoprotein A-I binding GO:0034186 9.65 ABCA1 LCAT SCARB1
13 cholesterol binding GO:0015485 9.63 ABCA1 APOA1 APOA2 APOC3 APOE CETP
14 low-density lipoprotein particle receptor binding GO:0050750 9.61 APOB APOE
15 high-density lipoprotein particle receptor binding GO:0070653 9.61 APOA1 APOA2 APOC3
16 triglyceride lipase activity GO:0004806 9.6 LIPC LPL
17 phospholipase activity GO:0004620 9.59 LIPC LPL
18 lipoprotein particle binding GO:0071813 9.58 APOA1 APOE
19 apolipoprotein receptor binding GO:0034190 9.57 APOA1 APOA2
20 triglyceride binding GO:0017129 9.56 CETP LPL
21 lipid transporter activity GO:0005319 9.43 APOA1 APOA2 APOB APOE CETP PLTP
22 cholesterol transporter activity GO:0017127 9.1 ABCA1 APOA1 APOA2 APOB APOE CETP

Sources for Hyperalphalipoproteinemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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