eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Hypercholesterolemia, autosomal dominant, type B
Hypercholesterolemia, autosomal dominant, type B
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Subtype of:
Hypercholesterolemia
Download ▾
Download as CSV
Download as PDF
Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
hypercholesterolemia, autosomal dominant, type B
MONDO_0005439
APOB
Causal
27604308
ClinGen
,
Open Targets
Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis
Cell surface interactions at the vascular wall
Scavenging by Class B Receptors
Scavenging by Class A Receptors
Scavenging by Class F Receptors
Scavenging by Class H Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Platelet sensitization by LDL
Regulation of TLR by endogenous ligand
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Chylomicron clearance
LDL clearance
LDL remodeling
VLDL clearance
Retinoid metabolism and transport
+20 more
Hypercholesterolemia, familial, 2
MONDO_0007751
APOB
Unknown
27604308
23433573
25414277
8141833
9259199
2563166
21382890
7883971
Open Targets
Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis
Cell surface interactions at the vascular wall
Scavenging by Class B Receptors
Scavenging by Class A Receptors
Scavenging by Class F Receptors
Scavenging by Class H Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Platelet sensitization by LDL
Regulation of TLR by endogenous ligand
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Chylomicron clearance
LDL clearance
LDL remodeling
VLDL clearance
Retinoid metabolism and transport
+20 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Hypercholesterolemia, autosomal dominant, type B.
5
View disease cluster →
Familial hypobetalipoproteinemia 1
1 shared gene
APOB
Related via 1 shared gene including APOB.
Isolated systolic hypertension
1 shared gene
APOB
Related via 1 shared gene including APOB.
Ataxia with vitamin e deficiency
1 shared gene
APOB
Related via 1 shared gene including APOB.
Hypobetalipoproteinemia
1 shared gene
APOB
Related via 1 shared gene including APOB.
Congenital stenosis of aortic valve
1 shared gene
APOB
Related via 1 shared gene including APOB.
1
GeDiPNet AI Assistant
Online