MCID: HYP734
MIFTS: 43

Hypercholesterolemia, Autosomal Dominant, Type B

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Autosomal Dominant, Type B

MalaCards integrated aliases for Hypercholesterolemia, Autosomal Dominant, Type B:

Name: Hypercholesterolemia, Autosomal Dominant, Type B 57 29 6 40
Hypercholesterolemia, Due to Ligand-Defective Apo B 57 13
Familial Ligand-Defective Apolipoprotein B-100 53 75
Apolipoprotein B-100, Familial Defective 57 55
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 57
Familial Hypercholesterolemia Due to Ligand-Defective 53
Apolipoprotein B-100, Familial Ligand-Defective 57
Autosomal Dominant Type B Hypercholesterolemia 53
Familial Defective Apolipoprotein B-100 53
Hyperlipoproteinemia, Type 2 a 53
Hyperlipoproteinemia Type Iib 73
Fdb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypercholesterolemia, autosomal dominant, type b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot : 75 Familial ligand-defective apolipoprotein B-100: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.

MalaCards based summary : Hypercholesterolemia, Autosomal Dominant, Type B, also known as hypercholesterolemia, due to ligand-defective apo b, is related to defective apolipoprotein b-100 and xanthoma disseminatum. An important gene associated with Hypercholesterolemia, Autosomal Dominant, Type B is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Related phenotypes are corneal arcus and xanthelasma

Description from OMIM: 144010

Related Diseases for Hypercholesterolemia, Autosomal Dominant, Type B

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive

Diseases related to Hypercholesterolemia, Autosomal Dominant, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 defective apolipoprotein b-100 28.8 APOB APOE LDLR
2 xanthoma disseminatum 10.0 APOB APOE
3 leukodystrophy, hypomyelinating, 3 10.0 APOB APOE
4 schnyder corneal dystrophy 10.0 APOB APOE
5 hyperlipidemia, familial combined 10.0 APOB APOE
6 hyperlipoproteinemia, type iv 10.0 APOB APOE
7 ischemic heart disease 10.0 APOB APOE
8 hypolipoproteinemia 9.9 APOB APOE
9 abetalipoproteinemia 9.9 APOB APOE
10 coronary stenosis 9.8 APOB APOE
11 carotid artery disease 9.8 APOB APOE
12 gallbladder disease 9.8 APOB APOE
13 tangier disease 9.7 APOB APOE
14 aortic atherosclerosis 9.7 APOE LDLR
15 smith-lemli-opitz syndrome 9.7 APOE LDLR
16 arteriosclerosis 9.7 APOB APOE
17 hypoalphalipoproteinemia, primary 9.6 APOB LDLR
18 hypertriglyceridemia, familial 9.6 APOB LDLR
19 macular degeneration, age-related, 1 9.5 APOB APOE
20 hepatitis c virus 9.3 APOE LDLR
21 stroke, ischemic 9.2 APOB APOE
22 lipoprotein glomerulopathy 9.1 APOB APOE LDLR
23 hypobetalipoproteinemia, familial, 1 9.1 APOB APOE LDLR
24 homozygous familial hypercholesterolemia 9.1 APOB APOE LDLR
25 xanthomatosis 9.1 APOB APOE LDLR
26 hyperlipoproteinemia, type iii 9.1 APOB APOE LDLR
27 arcus corneae 9.1 APOB APOE LDLR
28 hyperalphalipoproteinemia 1 9.1 APOB APOE LDLR
29 lecithin:cholesterol acyltransferase deficiency 9.1 APOB APOE LDLR
30 coronary heart disease 1 9.1 APOB APOE LDLR
31 familial hyperlipidemia 9.1 APOB APOE LDLR
32 lipid metabolism disorder 9.1 APOB APOE LDLR
33 arteries, anomalies of 9.1 APOB APOE LDLR
34 atherosclerosis susceptibility 9.1 APOB APOE LDLR
35 cerebrovascular disease 9.1 APOB APOE LDLR
36 hypercholesterolemia, familial 9.0 APOB APOE LDLR
37 vascular disease 9.0 APOB APOE LDLR
38 coronary artery anomaly 9.0 APOB APOE LDLR
39 heart disease 8.9 APOB APOE LDLR
40 myocardial infarction 8.9 APOB APOE LDLR

Graphical network of the top 20 diseases related to Hypercholesterolemia, Autosomal Dominant, Type B:



Diseases related to Hypercholesterolemia, Autosomal Dominant, Type B

Symptoms & Phenotypes for Hypercholesterolemia, Autosomal Dominant, Type B

Symptoms via clinical synopsis from OMIM:

57
Skin:
tendinous xanthomas
planar xanthomas in homozygotes

Cardiac:
coronary artery disease

Eyes:
corneal arcus
xanthelasma

Lab:
hypercholesterolemia
abnormal ldl


Clinical features from OMIM:

144010

Human phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

32
# Description HPO Frequency HPO Source Accession
1 corneal arcus 32 HP:0001084
2 xanthelasma 32 HP:0001114
3 coronary artery atherosclerosis 32 HP:0001677
4 hypercholesterolemia 32 HP:0003124

GenomeRNAi Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOB APOE LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 APOB APOE LDLR
2 muscle MP:0005369 9.33 APOB APOE LDLR
3 pigmentation MP:0001186 9.13 APOB APOE LDLR
4 vision/eye MP:0005391 8.8 APOB APOE LDLR

Drugs & Therapeutics for Hypercholesterolemia, Autosomal Dominant, Type B

Drugs for Hypercholesterolemia, Autosomal Dominant, Type B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticholesteremic Agents Phase 4,Phase 2
2 Antimetabolites Phase 4,Phase 2
3 Calcium, Dietary Phase 4,Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Rosuvastatin Calcium Phase 4 147098-20-2
8 Atorvastatin Calcium Phase 2 134523-03-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
2 Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM) Completed NCT01279590 Phase 2 PPD10558;Atorvastatin;Placebo

Search NIH Clinical Center for Hypercholesterolemia, Autosomal Dominant, Type B

Genetic Tests for Hypercholesterolemia, Autosomal Dominant, Type B

Genetic tests related to Hypercholesterolemia, Autosomal Dominant, Type B:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, Type B 29 APOB

Anatomical Context for Hypercholesterolemia, Autosomal Dominant, Type B

Publications for Hypercholesterolemia, Autosomal Dominant, Type B

Articles related to Hypercholesterolemia, Autosomal Dominant, Type B:

# Title Authors Year
1
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. ( 18325181 )
2008
2
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500-->Gln and Arg3531-->Cys mutations in a French population. ( 9259199 )
1997
3
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. ( 9105560 )
1997

Variations for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

75
# Symbol AA change Variation ID SNP ID
1 APOB p.Arg3527Gln VAR_005025 rs5742904
2 APOB p.Arg3558Cys VAR_005026 rs12713559

ClinVar genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

6
(show top 50) (show all 498)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh37 Chromosome 2, 21229446: 21229446
2 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh38 Chromosome 2, 21006574: 21006574
3 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh37 Chromosome 2, 21229553: 21229553
4 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh38 Chromosome 2, 21006681: 21006681
5 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh37 Chromosome 2, 21233099: 21233101
6 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh38 Chromosome 2, 21010227: 21010229
7 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh38 Chromosome 2, 21009172: 21009172
8 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh37 Chromosome 2, 21232044: 21232044
9 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh38 Chromosome 2, 21011802: 21011802
10 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh37 Chromosome 2, 21234674: 21234674
11 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh38 Chromosome 2, 21023544: 21023544
12 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh37 Chromosome 2, 21246416: 21246416
13 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh37 Chromosome 2, 21251367: 21251367
14 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh38 Chromosome 2, 21028495: 21028495
15 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh37 Chromosome 2, 21255280: 21255280
16 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh38 Chromosome 2, 21032408: 21032408
17 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh38 Chromosome 2, 21007033: 21007033
18 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh37 Chromosome 2, 21229905: 21229905
19 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh37 Chromosome 2, 21231278: 21231278
20 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh38 Chromosome 2, 21008406: 21008406
21 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh37 Chromosome 2, 21231387: 21231387
22 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh38 Chromosome 2, 21008515: 21008515
23 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh37 Chromosome 2, 21232455: 21232455
24 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh38 Chromosome 2, 21009583: 21009583
25 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh37 Chromosome 2, 21233999: 21233999
26 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh38 Chromosome 2, 21011127: 21011127
27 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh37 Chromosome 2, 21236070: 21236070
28 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh38 Chromosome 2, 21013198: 21013198
29 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh37 Chromosome 2, 21238007: 21238007
30 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh38 Chromosome 2, 21015135: 21015135
31 APOB NM_000384.2(APOB): c.3337G> C (p.Asp1113His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713844 GRCh37 Chromosome 2, 21238413: 21238413
32 APOB NM_000384.2(APOB): c.3337G> C (p.Asp1113His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713844 GRCh38 Chromosome 2, 21015541: 21015541
33 APOB NM_000384.2(APOB): c.2222C> A (p.Thr741Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12714192 GRCh37 Chromosome 2, 21249682: 21249682
34 APOB NM_000384.2(APOB): c.2222C> A (p.Thr741Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12714192 GRCh38 Chromosome 2, 21026810: 21026810
35 APOB NM_000384.2(APOB): c.606A> T (p.Glu202Asp) single nucleotide variant Benign/Likely benign rs61746672 GRCh37 Chromosome 2, 21260059: 21260059
36 APOB NM_000384.2(APOB): c.606A> T (p.Glu202Asp) single nucleotide variant Benign/Likely benign rs61746672 GRCh38 Chromosome 2, 21037187: 21037187
37 APOB NM_000384.2(APOB): c.13448C> T (p.Ala4483Val) single nucleotide variant Uncertain significance rs147416761 GRCh37 Chromosome 2, 21224846: 21224846
38 APOB NM_000384.2(APOB): c.13448C> T (p.Ala4483Val) single nucleotide variant Uncertain significance rs147416761 GRCh38 Chromosome 2, 21001974: 21001974
39 APOB NM_000384.2(APOB): c.12940A> G (p.Ile4314Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72654423 GRCh37 Chromosome 2, 21225354: 21225354
40 APOB NM_000384.2(APOB): c.12940A> G (p.Ile4314Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72654423 GRCh38 Chromosome 2, 21002482: 21002482
41 APOB NM_000384.2(APOB): c.12794T> C (p.Val4265Ala) single nucleotide variant Benign/Likely benign rs61743502 GRCh37 Chromosome 2, 21225500: 21225500
42 APOB NM_000384.2(APOB): c.12794T> C (p.Val4265Ala) single nucleotide variant Benign/Likely benign rs61743502 GRCh38 Chromosome 2, 21002628: 21002628
43 APOB NM_000384.2(APOB): c.12021C> A (p.Gly4007=) single nucleotide variant Likely benign rs145498491 GRCh37 Chromosome 2, 21227207: 21227207
44 APOB NM_000384.2(APOB): c.12021C> A (p.Gly4007=) single nucleotide variant Likely benign rs145498491 GRCh38 Chromosome 2, 21004335: 21004335
45 APOB NM_000384.2(APOB): c.11966G> A (p.Arg3989His) single nucleotide variant Uncertain significance rs148197354 GRCh37 Chromosome 2, 21227262: 21227262
46 APOB NM_000384.2(APOB): c.11966G> A (p.Arg3989His) single nucleotide variant Uncertain significance rs148197354 GRCh38 Chromosome 2, 21004390: 21004390
47 APOB NM_000384.2(APOB): c.11477C> T (p.Thr3826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61744153 GRCh37 Chromosome 2, 21228263: 21228263
48 APOB NM_000384.2(APOB): c.11477C> T (p.Thr3826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61744153 GRCh38 Chromosome 2, 21005391: 21005391
49 APOB NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12713540 GRCh37 Chromosome 2, 21228339: 21228339
50 APOB NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12713540 GRCh38 Chromosome 2, 21005467: 21005467

Expression for Hypercholesterolemia, Autosomal Dominant, Type B

Search GEO for disease gene expression data for Hypercholesterolemia, Autosomal Dominant, Type B.

Pathways for Hypercholesterolemia, Autosomal Dominant, Type B

Pathways related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 APOB APOE LDLR
2
Show member pathways
12.1 APOB APOE LDLR
3
Show member pathways
11.97 APOB APOE LDLR
4
Show member pathways
11.83 APOB LDLR
5
Show member pathways
11.66 APOB APOE LDLR
6
Show member pathways
11.46 APOB APOE LDLR
7
Show member pathways
11.42 APOB APOE
8 10.87 APOE LDLR
9
Show member pathways
10.87 APOB APOE LDLR

GO Terms for Hypercholesterolemia, Autosomal Dominant, Type B

Cellular components related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.5 APOB APOE LDLR
2 endosome membrane GO:0010008 9.43 APOB LDLR
3 very-low-density lipoprotein particle GO:0034361 9.4 APOB APOE
4 endocytic vesicle lumen GO:0071682 9.37 APOB APOE
5 chylomicron GO:0042627 9.26 APOB APOE
6 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
8 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

Biological processes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.79 APOB APOE LDLR
2 receptor-mediated endocytosis GO:0006898 9.7 APOB APOE LDLR
3 negative regulation of gene expression GO:0010629 9.64 APOE LDLR
4 cellular protein metabolic process GO:0044267 9.63 APOB APOE
5 membrane organization GO:0061024 9.63 APOB LDLR
6 retinoid metabolic process GO:0001523 9.62 APOB APOE
7 long-term memory GO:0007616 9.61 APOE LDLR
8 cholesterol transport GO:0030301 9.61 APOB LDLR
9 lipid transport GO:0006869 9.61 APOB APOE LDLR
10 triglyceride catabolic process GO:0019433 9.6 APOB APOE
11 cholesterol efflux GO:0033344 9.59 APOB APOE
12 low-density lipoprotein particle clearance GO:0034383 9.58 APOB LDLR
13 positive regulation of endocytosis GO:0045807 9.58 APOE LDLR
14 steroid metabolic process GO:0008202 9.58 APOB APOE LDLR
15 artery morphogenesis GO:0048844 9.57 APOB APOE
16 low-density lipoprotein particle remodeling GO:0034374 9.56 APOB APOE
17 regulation of protein metabolic process GO:0051246 9.55 APOE LDLR
18 regulation of cholesterol metabolic process GO:0090181 9.54 APOE LDLR
19 cholesterol metabolic process GO:0008203 9.54 APOB APOE LDLR
20 chylomicron assembly GO:0034378 9.51 APOB APOE
21 cholesterol homeostasis GO:0042632 9.5 APOB APOE LDLR
22 chylomicron remodeling GO:0034371 9.49 APOB APOE
23 lipoprotein biosynthetic process GO:0042158 9.48 APOB APOE
24 very-low-density lipoprotein particle clearance GO:0034447 9.46 APOB APOE
25 lipoprotein metabolic process GO:0042157 9.33 APOB APOE LDLR
26 response to caloric restriction GO:0061771 9.26 APOE LDLR
27 chylomicron remnant clearance GO:0034382 9.13 APOB APOE LDLR
28 lipoprotein catabolic process GO:0042159 8.8 APOB APOE LDLR

Molecular functions related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.37 APOB APOE
2 phospholipid binding GO:0005543 9.32 APOB APOE
3 amyloid-beta binding GO:0001540 9.26 APOE LDLR
4 lipid transporter activity GO:0005319 9.16 APOB APOE
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
6 cholesterol transporter activity GO:0017127 8.62 APOB APOE

Sources for Hypercholesterolemia, Autosomal Dominant, Type B

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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