HALP1
MCID: HYP732
MIFTS: 53

Hyperalphalipoproteinemia 1 (HALP1)

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

Aliases & Classifications for Hyperalphalipoproteinemia 1

MalaCards integrated aliases for Hyperalphalipoproteinemia 1:

Name: Hyperalphalipoproteinemia 1 57 75 29 6 73
Hyperalphalipoproteinemia 57 37 29 13 55 40
Cetp Deficiency 57 75 55
Cholesteryl Ester Transfer Protein Deficiency 75 73
Familial Hyperalphalipoproteinemia 59 73
Halp1 57 75
Cholesterol Ester Transfer Protein Deficiency 57
Cholesterol-Ester Transfer Protein Deficiency 59
Cept Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
cholesterol-ester transfer protein deficiency
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hyperalphalipoproteinemia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 143470
Orphanet 59 ORPHA79506
ICD10 via Orphanet 34 E78.4
UMLS via Orphanet 74 C0342883
MeSH 44 D006951
KEGG 37 H01199

Summaries for Hyperalphalipoproteinemia 1

UniProtKB/Swiss-Prot : 75 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 coronary artery anomaly and arteries, anomalies of. 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. Affiliated tissues include heart and eye, and related phenotypes are hyperlipidemia and hypercholesterolemia

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 coronary artery anomaly 29.8 LPL CETP APOB APOA1
2 arteries, anomalies of 29.4 ABCA1 APOA1 APOB APOE CETP LDLR
3 hyperlipidemia, familial combined 29.4 APOB APOC3 LPL APOA2 APOA1
4 heart disease 28.8 LPL LDLR APOE APOC3 APOB APOA1
5 hypercholesterolemia, familial 28.2 LPL LIPC LDLR LCAT CETP APOE
6 coronary heart disease 1 28.1 LPL LIPC LDLR LCAT CETP APOE
7 apolipoprotein c-iii deficiency 11.9
8 apo a-i deficiency 10.2 LCAT APOA1
9 amyloidosis aa 10.1 LCAT APOA1
10 generalized atherosclerosis 10.1 PLTP APOE
11 hereditary amyloidosis 10.1 APOA2 APOA1
12 cerebral atherosclerosis 10.1 APOE APOA1
13 lipomatosis, multiple symmetric 10.0
14 lipomatosis 10.0
15 fish-eye disease 10.0 LCAT APOA2 APOA1
16 dysbaric osteonecrosis 10.0 APOB APOA1
17 xanthoma disseminatum 10.0 APOE APOB
18 fetal macrosomia 10.0 LCAT APOB APOA1
19 lipase deficiency, combined 10.0 LPL LIPC
20 drug-induced lupus erythematosus 9.9 SCARB1 ABCA1
21 huntington disease-like 1 9.9 CETP APOE APOB
22 chylomicron retention disease 9.9 APOB APOA1
23 niemann-pick disease, type b 9.9 LCAT APOA1 ABCA1
24 familial lipoprotein lipase deficiency 9.9 LPL LIPC APOC3
25 carotid artery disease 9.9 APOE APOB APOA1
26 alzheimer disease 2 9.9 CETP APOE
27 schnyder corneal dystrophy 9.9 APOE APOB APOA2
28 bardet-biedl syndrome 2 9.9 LPL APOC3 APOA1
29 hypercholesterolemia, autosomal dominant, type b 9.9 LDLR APOE APOB
30 arteriosclerosis 9.9 APOE APOB APOA1
31 vitamin e, familial isolated deficiency of 9.9 APOB APOA1 ABCA1
32 recurrent acute pancreatitis 9.9 LPL APOE
33 familial lcat deficiency 9.9 APOA1 APOA2 APOE LCAT
34 coronary stenosis 9.8 CETP APOE APOB APOA1
35 gallbladder disease 9.8 CETP APOE APOB APOA1
36 smith-lemli-opitz syndrome 9.8 LDLR APOE ABCA1
37 leukodystrophy, hypomyelinating, 3 9.8 APOE APOB APOA2 APOA1
38 hepatitis c virus 9.8 SCARB1 LDLR APOE
39 homozygous familial hypercholesterolemia 9.8 LDLR APOE APOB LIPC
40 defective apolipoprotein b-100 9.8 LDLR LCAT APOE APOB
41 sea-blue histiocyte disease 9.8 LDLR LCAT APOE APOB
42 aortic atherosclerosis 9.7 LDLR CETP APOE ABCA1
43 cerebrovascular disease 9.7 LDLR APOE APOB APOA1
44 hyperlipidemia, combined, 1 9.7 LPL LIPC APOC3 APOB
45 hepatic lipase deficiency 9.7 LPL LIPC APOE APOA1
46 hyperlipoproteinemia, type iv 9.7 LPL APOC3 APOB APOA2
47 hyperlipoproteinemia, type v 9.6 LPL APOE APOB APOA1
48 ischemic heart disease 9.6 LPL APOE APOB APOA1
49 lipoprotein glomerulopathy 9.6 LDLR LCAT APOE APOB APOA2
50 macular degeneration, age-related, 1 9.6 LIPC CETP APOE APOB ABCA1

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:

57
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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlipidemia 59 32 obligate (100%) Obligate (100%) HP:0003077
2 hypercholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003124
3 hypotriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0012153
4 precocious atherosclerosis 59 Excluded (0%)
5 hyperalphalipoproteinemia 59 Obligate (100%)
6 hyperlipoproteinemia 59 Obligate (100%)
7 tendon xanthomatosis 59 Excluded (0%)
8 increased hdl cholesterol concentration 32 obligate (100%) HP:0012184

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ABCA1 APOA1 APOA2 APOB APOE LCAT
2 cardiovascular system MP:0005385 10.01 ABCA1 APOA1 APOB APOE LCAT LDLR
3 endocrine/exocrine gland MP:0005379 9.91 ABCA1 APOA1 APOE LCAT LDLR LIPC
4 liver/biliary system MP:0005370 9.86 ABCA1 APOA1 APOB APOE LCAT LDLR
5 muscle MP:0005369 9.63 ABCA1 APOB APOE LDLR LPL SCARB1
6 pigmentation MP:0001186 9.26 ABCA1 APOB APOE LDLR
7 vision/eye MP:0005391 9.1 ABCA1 APOB APOE LCAT LDLR PLTP

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 Not Applicable 58-61-7 60961
2 Pharmaceutical Solutions Not Applicable

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 Not Applicable 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 1 29 CETP
2 Hyperalphalipoproteinemia 29

Anatomical Context for Hyperalphalipoproteinemia 1

MalaCards organs/tissues related to Hyperalphalipoproteinemia 1:

41
Heart, Eye

Publications for Hyperalphalipoproteinemia 1

Articles related to Hyperalphalipoproteinemia 1:

(show all 14)
# Title Authors Year
1
Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection. ( 29198934 )
2018
2
eNOS activation by HDL is impaired in genetic CETP deficiency. ( 24830642 )
2014
3
High-density lipoprotein (HDL) particle subpopulations in heterozygous cholesteryl ester transfer protein (CETP) deficiency: maintenance of antioxidative activity. ( 23189141 )
2012
4
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency. ( 22339301 )
2012
5
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
6
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred. ( 19200546 )
2009
7
Decreased post-prandial triglyceride response and diminished remnant lipoprotein formation in cholesteryl ester transfer protein (CETP) deficiency. ( 17399717 )
2008
8
[CETP deficiency]. ( 17824055 )
2007
9
Is cholesteryl ester transfer protein (CETP) deficiency atherogenic in familial hypercholesterolemia. ( 9678678 )
1998
10
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
11
Cholesteryl ester transfer protein activity enhances plasma cholesteryl ester formation. Studies in CETP transgenic mice and human genetic CETP deficiency. ( 9194753 )
1997
12
Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency) and coronary heart disease. ( 7695176 )
1995
13
[Molecular genetics of cholesterol transport and cholesterol reverse transport disorders (familial hypercholesterolemia and CETP deficiency), and coronary heart disease]. ( 7739114 )
1995
14
Characterization of plasma lipoproteins in patients heterozygous for human plasma cholesteryl ester transfer protein (CETP) deficiency: plasma CETP regulates high-density lipoprotein concentration and composition. ( 1870431 )
1991

Variations for Hyperalphalipoproteinemia 1

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

75
# 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 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 CETP NM_000078.2(CETP): c.84C> T (p.Ile28=) single nucleotide variant Likely benign rs142117489 GRCh37 Chromosome 16, 56995975: 56995975
2 CETP NM_000078.2(CETP): c.84C> T (p.Ile28=) single nucleotide variant Likely benign rs142117489 GRCh38 Chromosome 16, 56962063: 56962063
3 CETP NM_000078.2(CETP): c.84C> T (p.Ile28=) single nucleotide variant Likely benign rs142117489 NCBI36 Chromosome 16, 55553476: 55553476
4 CETP NM_000078.2(CETP): c.534G> A (p.Gly178=) single nucleotide variant Likely benign rs34611098 GRCh37 Chromosome 16, 57004951: 57004951
5 CETP NM_000078.2(CETP): c.534G> A (p.Gly178=) single nucleotide variant Likely benign rs34611098 GRCh38 Chromosome 16, 56971039: 56971039
6 CETP NM_000078.2(CETP): c.658+8C> T single nucleotide variant Benign rs1532625 GRCh37 Chromosome 16, 57005301: 57005301
7 CETP NM_000078.2(CETP): c.658+8C> T single nucleotide variant Benign rs1532625 GRCh38 Chromosome 16, 56971389: 56971389
8 CETP NM_000078.2(CETP): c.991G> A (p.Gly331Ser) single nucleotide variant Likely benign rs5881 GRCh38 Chromosome 16, 56978100: 56978100
9 CETP NM_000078.2(CETP): c.991G> A (p.Gly331Ser) single nucleotide variant Likely benign rs5881 GRCh37 Chromosome 16, 57012012: 57012012
10 CETP NM_000078.2(CETP): c.1377C> T (p.Asp459=) single nucleotide variant Uncertain significance rs144375086 GRCh38 Chromosome 16, 56983381: 56983381
11 CETP NM_000078.2(CETP): c.1377C> T (p.Asp459=) single nucleotide variant Uncertain significance rs144375086 GRCh37 Chromosome 16, 57017293: 57017293
12 CETP NM_000078.2(CETP): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely benign rs577301331 GRCh38 Chromosome 16, 56983406: 56983406
13 CETP NM_000078.2(CETP): c.1402C> T (p.Arg468Ter) single nucleotide variant Likely benign rs577301331 GRCh37 Chromosome 16, 57017318: 57017318
14 CETP NM_000078.2(CETP): c.1403G> A (p.Arg468Gln) single nucleotide variant Benign rs1800777 GRCh38 Chromosome 16, 56983407: 56983407
15 CETP NM_000078.2(CETP): c.1403G> A (p.Arg468Gln) single nucleotide variant Benign rs1800777 GRCh37 Chromosome 16, 57017319: 57017319
16 CETP NM_000078.2(CETP): c.*84G> A single nucleotide variant Benign rs1801706 GRCh38 Chromosome 16, 56983750: 56983750
17 CETP NM_000078.2(CETP): c.*84G> A single nucleotide variant Benign rs1801706 GRCh37 Chromosome 16, 57017662: 57017662
18 CETP NM_000078.2(CETP): c.466G> A (p.Asp156Asn) single nucleotide variant Likely benign rs201778606 GRCh37 Chromosome 16, 57003852: 57003852
19 CETP NM_000078.2(CETP): c.466G> A (p.Asp156Asn) single nucleotide variant Likely benign rs201778606 GRCh38 Chromosome 16, 56969940: 56969940
20 CETP NM_000078.2(CETP): c.1046C> A (p.Ser349Tyr) single nucleotide variant Likely benign rs752298084 GRCh38 Chromosome 16, 56978155: 56978155
21 CETP NM_000078.2(CETP): c.1046C> A (p.Ser349Tyr) single nucleotide variant Likely benign rs752298084 GRCh37 Chromosome 16, 57012067: 57012067
22 CETP NM_000078.2(CETP): c.1168G> C (p.Ala390Pro) single nucleotide variant Benign rs5880 GRCh38 Chromosome 16, 56981179: 56981179
23 CETP NM_000078.2(CETP): c.1168G> C (p.Ala390Pro) single nucleotide variant Benign rs5880 GRCh37 Chromosome 16, 57015091: 57015091
24 CETP NM_000078.2(CETP): c.1215-14C> T single nucleotide variant Benign rs1800774 GRCh38 Chromosome 16, 56981633: 56981633
25 CETP NM_000078.2(CETP): c.1215-14C> T single nucleotide variant Benign rs1800774 GRCh37 Chromosome 16, 57015545: 57015545
26 CETP NM_000078.2(CETP): c.44C> G (p.Ala15Gly) single nucleotide variant Benign rs34065661 GRCh38 Chromosome 16, 56962023: 56962023
27 CETP NM_000078.2(CETP): c.44C> G (p.Ala15Gly) single nucleotide variant Benign rs34065661 GRCh37 Chromosome 16, 56995935: 56995935
28 CETP NM_000078.2(CETP): c.460C> T (p.Arg154Trp) single nucleotide variant Likely benign rs34716057 GRCh37 Chromosome 16, 57003846: 57003846
29 CETP NM_000078.2(CETP): c.460C> T (p.Arg154Trp) single nucleotide variant Likely benign rs34716057 GRCh38 Chromosome 16, 56969934: 56969934
30 CETP NM_000078.2(CETP): c.861C> T (p.Phe287=) single nucleotide variant Benign rs5883 GRCh38 Chromosome 16, 56973441: 56973441
31 CETP NM_000078.2(CETP): c.861C> T (p.Phe287=) single nucleotide variant Benign rs5883 GRCh37 Chromosome 16, 57007353: 57007353
32 CETP NM_000078.2(CETP): c.940G> A (p.Glu314Lys) single nucleotide variant Likely benign rs140547417 GRCh38 Chromosome 16, 56975110: 56975110
33 CETP NM_000078.2(CETP): c.940G> A (p.Glu314Lys) single nucleotide variant Likely benign rs140547417 GRCh37 Chromosome 16, 57009022: 57009022
34 CETP NM_000078.2(CETP): c.1017C> T (p.Thr339=) single nucleotide variant Likely benign rs138298866 GRCh38 Chromosome 16, 56978126: 56978126
35 CETP NM_000078.2(CETP): c.1017C> T (p.Thr339=) single nucleotide variant Likely benign rs138298866 GRCh37 Chromosome 16, 57012038: 57012038
36 CETP NM_000078.2(CETP): c.1146+7C> T single nucleotide variant Likely benign rs182237338 GRCh38 Chromosome 16, 56978262: 56978262
37 CETP NM_000078.2(CETP): c.1146+7C> T single nucleotide variant Likely benign rs182237338 GRCh37 Chromosome 16, 57012174: 57012174
38 CETP NM_000078.2(CETP): c.1153G> A (p.Val385Met) single nucleotide variant Likely benign rs34855278 GRCh38 Chromosome 16, 56981164: 56981164
39 CETP NM_000078.2(CETP): c.1153G> A (p.Val385Met) single nucleotide variant Likely benign rs34855278 GRCh37 Chromosome 16, 57015076: 57015076
40 CETP NM_000078.2(CETP): c.1161C> G (p.Thr387=) single nucleotide variant Benign rs7192120 GRCh38 Chromosome 16, 56981172: 56981172
41 CETP NM_000078.2(CETP): c.1161C> G (p.Thr387=) single nucleotide variant Benign rs7192120 GRCh37 Chromosome 16, 57015084: 57015084
42 CETP NM_000078.2(CETP): c.1215-15G> T single nucleotide variant Benign rs7196174 GRCh38 Chromosome 16, 56981632: 56981632
43 CETP NM_000078.2(CETP): c.1215-15G> T single nucleotide variant Benign rs7196174 GRCh37 Chromosome 16, 57015544: 57015544
44 CETP NM_000078.2(CETP): c.1299G> A (p.Val433=) single nucleotide variant Benign rs5886 GRCh38 Chromosome 16, 56982215: 56982215
45 CETP NM_000078.2(CETP): c.1299G> A (p.Val433=) single nucleotide variant Benign rs5886 GRCh37 Chromosome 16, 57016127: 57016127
46 CETP NM_000078.2(CETP): c.-65G> A single nucleotide variant Benign rs17231520 GRCh37 Chromosome 16, 56995827: 56995827
47 CETP NM_000078.2(CETP): c.-65G> A single nucleotide variant Benign rs17231520 GRCh38 Chromosome 16, 56961915: 56961915
48 CETP NM_000078.2(CETP): c.*184C> G single nucleotide variant Benign rs289742 GRCh37 Chromosome 16, 57017762: 57017762
49 CETP NM_000078.2(CETP): c.*184C> G single nucleotide variant Benign rs289742 GRCh38 Chromosome 16, 56983850: 56983850
50 CETP NM_000078.2(CETP): c.1321+2dupT duplication 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:

37
# 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 11.59 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 16)
# 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 blood microparticle GO:0072562 9.73 APOA1 APOA2 APOE
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
6 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
7 very-low-density lipoprotein particle GO:0034361 9.63 APOA1 APOA2 APOB APOC3 APOE LPL
8 low-density lipoprotein particle GO:0034362 9.62 APOA1 APOB APOE LDLR
9 spherical high-density lipoprotein particle GO:0034366 9.61 APOA1 APOA2 APOC3
10 intermediate-density lipoprotein particle GO:0034363 9.56 APOA1 APOB APOC3 APOE
11 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
12 high-density lipoprotein particle GO:0034364 9.5 APOA1 APOA2 APOE CETP LCAT LIPC
13 chylomicron GO:0042627 9.1 APOA1 APOA2 APOB APOC3 APOE LPL
14 extracellular region GO:0005576 10.16 APOA1 APOA2 APOB APOC3 APOE CETP
15 extracellular exosome GO:0070062 10.14 APOA1 APOA2 APOB APOC3 APOE CETP
16 extracellular space GO:0005615 10.07 APOA1 APOA2 APOB APOC3 APOE CETP

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.99 APOA1 APOA2 APOB APOE
2 low-density lipoprotein particle remodeling GO:0034374 9.99 APOA2 APOB APOE CETP LIPC
3 lipid catabolic process GO:0016042 9.97 APOB APOC3 LIPC LPL
4 phospholipid efflux GO:0033700 9.97 ABCA1 APOA1 APOA2 APOC3 APOE
5 chylomicron assembly GO:0034378 9.97 APOA1 APOA2 APOB APOC3 APOE
6 high-density lipoprotein particle clearance GO:0034384 9.96 APOA1 APOA2 APOE LDLR SCARB1
7 chylomicron remnant clearance GO:0034382 9.95 APOB APOC3 APOE LDLR LIPC
8 high-density lipoprotein particle assembly GO:0034380 9.92 ABCA1 APOA1 APOA2 APOE
9 lipoprotein biosynthetic process GO:0042158 9.92 ABCA1 APOA1 APOB APOE LCAT
10 regulation of Cdc42 protein signal transduction GO:0032489 9.91 ABCA1 APOA1 APOC3 APOE
11 regulation of lipid metabolic process GO:0019216 9.89 ABCA1 APOA1 APOA2
12 phospholipid metabolic process GO:0006644 9.88 APOA1 LCAT LPL
13 cholesterol efflux GO:0033344 9.87 ABCA1 APOA1 APOA2 APOB APOC3 APOE
14 phosphatidylcholine biosynthetic process GO:0006656 9.85 APOA1 APOA2 LCAT
15 low-density lipoprotein particle clearance GO:0034383 9.84 APOB LDLR SCARB1
16 positive regulation of cholesterol efflux GO:0010875 9.83 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 positive regulation of endocytosis GO:0045807 9.74 APOE LDLR
26 artery morphogenesis GO:0048844 9.74 APOB APOE
27 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 APOE SCARB1
28 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.74 ABCA1 LDLR
29 endothelial cell proliferation GO:0001935 9.74 APOA1 SCARB1
30 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
31 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
32 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
33 regulation of cholesterol metabolic process GO:0090181 9.73 APOE LDLR
34 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ABCA1 CETP
35 phosphatidylcholine metabolic process GO:0046470 9.72 CETP LCAT
36 cholesterol catabolic process GO:0006707 9.72 APOE SCARB1
37 positive regulation of triglyceride biosynthetic process GO:0010867 9.72 LDLR SCARB1
38 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
39 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOB APOC3
40 blood vessel endothelial cell migration GO:0043534 9.71 APOA1 SCARB1
41 regulation of lipoprotein lipase activity GO:0051004 9.71 LIPC LPL
42 regulation of cholesterol transport GO:0032374 9.7 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 triglyceride homeostasis GO:0070328 9.7 APOA1 APOC3 APOE CETP LIPC LPL
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 9.68 APOA1 APOA2
50 negative regulation of cholesterol import GO:0060621 9.68 APOA2 APOC3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.91 APOA1 APOA2 APOB APOC3 APOE CETP
2 heparin binding GO:0008201 9.88 APOB APOE LIPC LPL
3 amyloid-beta binding GO:0001540 9.83 APOA1 APOE LDLR SCARB1
4 phospholipid transporter activity GO:0005548 9.73 ABCA1 APOA1 CETP PLTP
5 phospholipid binding GO:0005543 9.73 ABCA1 APOA1 APOA2 APOB APOC3 APOE
6 phosphatidylcholine binding GO:0031210 9.72 APOA2 CETP PLTP
7 low-density lipoprotein particle binding GO:0030169 9.71 LDLR LIPC SCARB1
8 apolipoprotein binding GO:0034185 9.71 ABCA1 LIPC LPL 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 A-I binding GO:0034186 9.65 ABCA1 LCAT SCARB1
12 high-density lipoprotein particle receptor binding GO:0070653 9.63 APOA1 APOA2 APOC3
13 cholesterol binding GO:0015485 9.63 ABCA1 APOA1 APOA2 APOC3 APOE CETP
14 high-density lipoprotein particle binding GO:0008035 9.62 ABCA1 APOA1 APOA2 SCARB1
15 triglyceride lipase activity GO:0004806 9.61 LIPC LPL
16 low-density lipoprotein particle receptor binding GO:0050750 9.6 APOB APOE
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 cholesterol transporter activity GO:0017127 9.43 ABCA1 APOA1 APOA2 APOB APOE CETP
22 lipid transporter activity GO:0005319 9.17 ABCA1 APOA1 APOA2 APOB APOE CETP

Sources for Hyperalphalipoproteinemia 1

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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