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FDB
MCID: HYP734
MIFTS: 45

Hypercholesterolemia, Autosomal Dominant, Type B (FDB)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypercholesterolemia, Autosomal Dominant, Type B

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

Name: Hypercholesterolemia, Autosomal Dominant, Type B 58 30 6 41
Hypercholesterolemia, Due to Ligand-Defective Apo B 58 13
Familial Ligand-Defective Apolipoprotein B-100 54 76
Apolipoprotein B-100, Familial Defective 58 56
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 58
Familial Hypercholesterolemia Due to Ligand-Defective 54
Apolipoprotein B-100, Familial Ligand-Defective 58
Autosomal Dominant Type B Hypercholesterolemia 54
Familial Defective Apolipoprotein B-100 54
Hyperlipoproteinemia, Type 2 a 54
Hyperlipoproteinemia Type Iib 74
Fdb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypercholesterolemia, autosomal dominant, type b:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Muscle diseases Blood diseases
See all MalaCards categories (disease lists)


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Summaries for Hypercholesterolemia, Autosomal Dominant, Type B

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UniProtKB/Swiss-Prot : 76 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 hypercholesterolemia, familial. 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 Calcium and Rosuvastatin Calcium have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are hypercholesterolemia and xanthelasma

Description from OMIM: 144010
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Related Diseases for Hypercholesterolemia, Autosomal Dominant, Type B

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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 42)
# Related Disease Score Top Affiliating Genes
1 defective apolipoprotein b-100 30.4 APOB APOE LDLR
2 hypercholesterolemia, familial 29.6 APOB APOE LDLR
3 myocardial infarction 29.5 APOB APOE LDLR
4 arteries, anomalies of 29.5 APOB APOE LDLR
5 coronary heart disease 1 29.4 APOB APOE LDLR
6 heart disease 29.4 APOB APOE LDLR
7 coronary artery anomaly 10.1
8 hypothyroidism 10.1
9 xanthoma disseminatum 10.0 APOB APOE
10 huntington disease-like 1 10.0 APOB APOE
11 hyperlipoproteinemia, type v 10.0 APOB APOE
12 leukodystrophy, hypomyelinating, 3 10.0 APOB APOE
13 schnyder corneal dystrophy 10.0 APOB APOE
14 ischemic heart disease 10.0 APOB APOE
15 hypolipoproteinemia 10.0 APOB APOE
16 hypertriglyceridemia, familial 9.9 APOB APOE
17 coronary stenosis 9.9 APOB APOE
18 carotid artery disease 9.9 APOB APOE
19 gallbladder disease 9.9 APOB APOE
20 tangier disease 9.9 APOB APOE
21 aortic atherosclerosis 9.8 APOE LDLR
22 arteriosclerosis 9.8 APOB APOE
23 smith-lemli-opitz syndrome 9.8 APOE LDLR
24 macular degeneration, age-related, 1 9.8 APOB APOE
25 hypoalphalipoproteinemia, primary 9.8 APOB LDLR
26 stroke, ischemic 9.6 APOB APOE
27 hepatitis c virus 9.6 APOE LDLR
28 lipoprotein glomerulopathy 9.6 APOB APOE LDLR
29 sea-blue histiocyte disease 9.6 APOB APOE LDLR
30 homozygous familial hypercholesterolemia 9.6 APOB APOE LDLR
31 xanthomatosis 9.6 APOB APOE LDLR
32 hyperlipoproteinemia, type iii 9.6 APOB APOE LDLR
33 arcus corneae 9.5 APOB APOE LDLR
34 hyperalphalipoproteinemia 1 9.5 APOB APOE LDLR
35 lecithin:cholesterol acyltransferase deficiency 9.5 APOB APOE LDLR
36 abetalipoproteinemia 9.5 APOB APOE LDLR
37 familial hyperlipidemia 9.5 APOB APOE LDLR
38 lipid metabolism disorder 9.5 APOB APOE LDLR
39 atherosclerosis susceptibility 9.5 APOB APOE LDLR
40 cerebrovascular disease 9.5 APOB APOE LDLR
41 vascular disease 9.5 APOB APOE LDLR
42 body mass index quantitative trait locus 11 9.5 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
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Symptoms & Phenotypes for Hypercholesterolemia, Autosomal Dominant, Type B

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

33
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 33 HP:0003124
2 xanthelasma 33 HP:0001114
3 corneal arcus 33 HP:0001084
4 coronary artery atherosclerosis 33 HP:0001677

Symptoms via clinical synopsis from OMIM:

58
Lab:
hypercholesterolemia
abnormal ldl

Cardiac:
coronary artery disease

Eyes:
xanthelasma
corneal arcus

Skin:
planar xanthomas in homozygotes
tendinous xanthomas

Clinical features from OMIM:

144010

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

27
# 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:

47
# 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
Sources

Drugs & Therapeutics for Hypercholesterolemia, Autosomal Dominant, Type B

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
2 Rosuvastatin Calcium Phase 4 147098-20-2
3 Hypolipidemic Agents Phase 4,Phase 2
4 Antimetabolites Phase 4,Phase 2
5 Lipid Regulating Agents Phase 4,Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
7 Anticholesteremic Agents Phase 4,Phase 2
8 Calcium, Dietary Phase 4
9
Atorvastatin Approved Phase 2 134523-00-5 60823

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

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Genetic Tests for Hypercholesterolemia, Autosomal Dominant, Type B

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

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, Type B 30 APOB
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Anatomical Context for Hypercholesterolemia, Autosomal Dominant, Type B

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MalaCards organs/tissues related to Hypercholesterolemia, Autosomal Dominant, Type B:

42
Heart, Skin
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Publications for Hypercholesterolemia, Autosomal Dominant, Type B

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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: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. ( 9105560 )
1997
3
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. ( 9259199 )
1997
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Variations for Hypercholesterolemia, Autosomal Dominant, Type B

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

76
# 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 584)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh37 Chromosome 2, 21229160: 21229160
2 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh38 Chromosome 2, 21006288: 21006288
3 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh37 Chromosome 2, 21229068: 21229068
4 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh38 Chromosome 2, 21006196: 21006196
5 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh37 Chromosome 2, 21229161: 21229161
6 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh38 Chromosome 2, 21006289: 21006289
7 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh37 Chromosome 2, 21230565: 21230565
8 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh38 Chromosome 2, 21007693: 21007693
9 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 NCBI36 Chromosome 2, 21084070: 21084070
10 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh37 Chromosome 2, 21226042: 21226042
11 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh38 Chromosome 2, 21003170: 21003170
12 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 NCBI36 Chromosome 2, 21079547: 21079547
13 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh37 Chromosome 2, 21224853: 21224853
14 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh38 Chromosome 2, 21001981: 21001981
15 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh37 Chromosome 2, 21249716: 21249716
16 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh38 Chromosome 2, 21026844: 21026844
17 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh37 Chromosome 2, 21233972: 21233972
18 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh38 Chromosome 2, 21011100: 21011100
19 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh37 Chromosome 2, 21232804: 21232804
20 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh38 Chromosome 2, 21009932: 21009932
21 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh37 Chromosome 2, 21229446: 21229446
22 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh38 Chromosome 2, 21006574: 21006574
23 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh37 Chromosome 2, 21229553: 21229553
24 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh38 Chromosome 2, 21006681: 21006681
25 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh37 Chromosome 2, 21233099: 21233101
26 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh38 Chromosome 2, 21010227: 21010229
27 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh38 Chromosome 2, 21009172: 21009172
28 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh37 Chromosome 2, 21232044: 21232044
29 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh38 Chromosome 2, 21011802: 21011802
30 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh37 Chromosome 2, 21234674: 21234674
31 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh38 Chromosome 2, 21023544: 21023544
32 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh37 Chromosome 2, 21246416: 21246416
33 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh37 Chromosome 2, 21251367: 21251367
34 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh38 Chromosome 2, 21028495: 21028495
35 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh37 Chromosome 2, 21255280: 21255280
36 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh38 Chromosome 2, 21032408: 21032408
37 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh38 Chromosome 2, 21007033: 21007033
38 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh37 Chromosome 2, 21229905: 21229905
39 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh37 Chromosome 2, 21231278: 21231278
40 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh38 Chromosome 2, 21008406: 21008406
41 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh37 Chromosome 2, 21231387: 21231387
42 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh38 Chromosome 2, 21008515: 21008515
43 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh37 Chromosome 2, 21232455: 21232455
44 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh38 Chromosome 2, 21009583: 21009583
45 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh37 Chromosome 2, 21233999: 21233999
46 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh38 Chromosome 2, 21011127: 21011127
47 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh37 Chromosome 2, 21236070: 21236070
48 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh38 Chromosome 2, 21013198: 21013198
49 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh37 Chromosome 2, 21238007: 21238007
50 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh38 Chromosome 2, 21015135: 21015135
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Expression for Hypercholesterolemia, Autosomal Dominant, Type B

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

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

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 67
Show member pathways
 12.71 APOB APOE LDLR
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 12.1 APOB APOE LDLR
3
Lipoprotein metabolism 67
Show member pathways
 11.97 APOB APOE LDLR
4
Clathrin-mediated endocytosis 67
Show member pathways
 11.83 APOB LDLR
5
Selenium Micronutrient Network 1
Show member pathways
 11.67 APOB APOE LDLR
6
Metabolism of fat-soluble vitamins 67
Show member pathways
 11.46 APOB APOE LDLR
7
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.42 APOB APOE
8
A-beta Pathways: Uptake and Degradation 66
10.87 APOE LDLR
9
Statin Pathway 1
Show member pathways
 10.87 APOB APOE LDLR
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GO Terms for Hypercholesterolemia, Autosomal Dominant, Type B

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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 29)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 APOB APOE LDLR
2 receptor-mediated endocytosis GO:0006898 9.71 APOB APOE LDLR
3 negative regulation of gene expression GO:0010629 9.64 APOE LDLR
4 cellular protein metabolic process GO:0044267 9.64 APOB APOE
5 membrane organization GO:0061024 9.63 APOB LDLR
6 retinoid metabolic process GO:0001523 9.63 APOB APOE
7 long-term memory GO:0007616 9.62 APOE LDLR
8 cholesterol transport GO:0030301 9.61 APOB LDLR
9 triglyceride catabolic process GO:0019433 9.61 APOB APOE
10 lipid transport GO:0006869 9.61 APOB APOE LDLR
11 cholesterol efflux GO:0033344 9.59 APOB APOE
12 low-density lipoprotein particle clearance GO:0034383 9.58 APOB LDLR
13 artery morphogenesis GO:0048844 9.58 APOB APOE
14 steroid metabolic process GO:0008202 9.58 APOB APOE LDLR
15 low-density lipoprotein particle remodeling GO:0034374 9.57 APOB APOE
16 regulation of cholesterol metabolic process GO:0090181 9.56 APOE LDLR
17 regulation of protein metabolic process GO:0051246 9.55 APOE LDLR
18 cholesterol homeostasis GO:0042632 9.54 APOB APOE LDLR
19 chylomicron assembly GO:0034378 9.52 APOB APOE
20 high-density lipoprotein particle clearance GO:0034384 9.51 APOE LDLR
21 cholesterol metabolic process GO:0008203 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 positive regulation of endocytosis GO:0045807 9.3 APOE
27 response to caloric restriction GO:0061771 9.26 APOE LDLR
28 chylomicron remnant clearance GO:0034382 9.13 APOB APOE LDLR
29 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

Sources for Hypercholesterolemia, Autosomal Dominant, Type B

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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