GeDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Van buchem disease
Van buchem disease
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Download ▾
Download as CSV
Download as PDF
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
VAN BUCHEM DISEASE
C0432272
LRP5
Unknown
—
Disgenet
mTOR signaling pathway
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathways in cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
RNF mutants show enhanced WNT signaling and proliferation
+11 more
SOST
Unknown
11836356
Disgenet
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
VAN BUCHEM DISEASE TYPE 2
C1843323
LRP5
Unknown
—
Disgenet
mTOR signaling pathway
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathways in cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
RNF mutants show enhanced WNT signaling and proliferation
+11 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Van buchem disease.
5
View disease cluster →
Worth syndrome
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
polycystic liver disease 4 with or without kidney cysts
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
LRP5-related exudative vitreoretinopathy
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
Bone dysplasia with increased bone density
1 shared gene
SOST
Related via 1 shared gene including SOST.
Camurati-engelmann syndrome
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
1
GeDiPNet AI Assistant
Online