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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 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:

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 : 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 hypercholesterolemia, familial and defective apolipoprotein b-100. 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, Dietary and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, 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 hypercholesterolemia, familial 30.5 LDLR APOE APOB
2 defective apolipoprotein b-100 29.9 LDLR APOE APOB
3 myocardial infarction 29.8 LDLR APOE APOB
4 arteries, anomalies of 29.7 LDLR APOE APOB
5 coronary heart disease 1 29.7 LDLR APOE APOB
6 heart disease 29.7 LDLR APOE APOB
7 coronary artery anomaly 10.1
8 hypothyroidism 10.1
9 xanthoma disseminatum 10.0 APOE APOB
10 huntington disease-like 1 10.0 APOE APOB
11 leukodystrophy, hypomyelinating, 3 10.0 APOE APOB
12 hyperlipoproteinemia, type v 10.0 APOE APOB
13 schnyder corneal dystrophy 10.0 APOE APOB
14 ischemic heart disease 10.0 APOE APOB
15 hypolipoproteinemia 10.0 APOE APOB
16 hypertriglyceridemia, familial 10.0 APOE APOB
17 coronary stenosis 9.9 APOE APOB
18 carotid artery disease 9.9 APOE APOB
19 tangier disease 9.9 APOE APOB
20 gallbladder disease 9.9 APOE APOB
21 aortic atherosclerosis 9.9 LDLR APOE
22 arteriosclerosis 9.9 APOE APOB
23 smith-lemli-opitz syndrome 9.9 LDLR APOE
24 macular degeneration, age-related, 1 9.9 APOE APOB
25 hypoalphalipoproteinemia, primary 9.9 LDLR APOB
26 stroke, ischemic 9.8 APOE APOB
27 hepatitis c virus 9.8 LDLR APOE
28 lipoprotein glomerulopathy 9.7 LDLR APOE APOB
29 sea-blue histiocyte disease 9.7 LDLR APOE APOB
30 homozygous familial hypercholesterolemia 9.7 LDLR APOE APOB
31 xanthomatosis 9.7 LDLR APOE APOB
32 hyperlipoproteinemia, type iii 9.7 LDLR APOE APOB
33 arcus corneae 9.7 LDLR APOE APOB
34 hyperalphalipoproteinemia 1 9.7 LDLR APOE APOB
35 lecithin:cholesterol acyltransferase deficiency 9.7 LDLR APOE APOB
36 abetalipoproteinemia 9.7 LDLR APOE APOB
37 familial hyperlipidemia 9.7 LDLR APOE APOB
38 lipid metabolism disorder 9.7 LDLR APOE APOB
39 atherosclerosis susceptibility 9.7 LDLR APOE APOB
40 cerebrovascular disease 9.7 LDLR APOE APOB
41 vascular disease 9.7 LDLR APOE APOB
42 body mass index quantitative trait locus 11 9.7 LDLR APOE APOB

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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Symptoms via clinical synopsis from OMIM:

57
Lab:
hypercholesterolemia
abnormal ldl

Cardiac:
coronary artery disease

Eyes:
xanthelasma
corneal arcus

Skin:
planar xanthomas in homozygotes
tendinous xanthomas


Clinical features from OMIM:

144010

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

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

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
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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcium, Dietary Phase 4,Phase 2
2 Anticholesteremic Agents Phase 4,Phase 2
3 Antimetabolites Phase 4,Phase 2
4 Lipid Regulating Agents Phase 4,Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
6 Hypolipidemic 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

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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 29 APOB
Sources

Anatomical Context for Hypercholesterolemia, Autosomal Dominant, Type B

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

41
Skin, Heart
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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: 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
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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:

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 580)
# 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
Sources

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 66
Show member pathways
 12.71 APOB APOE LDLR
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.11 APOB APOE LDLR
3
Lipoprotein metabolism 66
Show member pathways
 11.97 APOB APOE LDLR
4
Clathrin-mediated endocytosis 66
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 66
Show member pathways
 11.46 APOB APOE LDLR
7
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.42 APOB APOE
8
A-beta Pathways: Uptake and Degradation 65
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 positive regulation of endocytosis GO:0045807 9.6 APOE LDLR
12 cholesterol efflux GO:0033344 9.59 APOB APOE
13 low-density lipoprotein particle clearance GO:0034383 9.58 APOB LDLR
14 artery morphogenesis GO:0048844 9.58 APOB APOE
15 steroid metabolic process GO:0008202 9.58 APOB APOE LDLR
16 low-density lipoprotein particle remodeling GO:0034374 9.57 APOB APOE
17 regulation of cholesterol metabolic process GO:0090181 9.56 APOE LDLR
18 regulation of protein metabolic process GO:0051246 9.55 APOE LDLR
19 cholesterol homeostasis GO:0042632 9.54 APOB APOE LDLR
20 chylomicron assembly GO:0034378 9.52 APOB APOE
21 high-density lipoprotein particle clearance GO:0034384 9.51 APOE LDLR
22 cholesterol metabolic process GO:0008203 9.5 APOB APOE LDLR
23 chylomicron remodeling GO:0034371 9.49 APOB APOE
24 lipoprotein biosynthetic process GO:0042158 9.48 APOB APOE
25 very-low-density lipoprotein particle clearance GO:0034447 9.46 APOB APOE
26 lipoprotein metabolic process GO:0042157 9.33 APOB APOE LDLR
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 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
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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