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Osteopetrosis, autosomal dominant 1
Osteopetrosis, autosomal dominant 1
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Subtype of:
Osteoporosis
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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
Osteopetrosis autosomal dominant type 1
MONDO_0008156
LRP5
Unknown
15024691
11719191
9056564
11741193
20034086
12579474
9831343
14727154
15981244
Open Targets
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
Osteopetrosis, autosomal dominant 1
MONDO_0011877
LRP5
Unknown
28111184
29131652
20034086
12579474
Open Targets
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
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Osteopetrosis, autosomal dominant 1.
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.
Osteoporosis-pseudoglioma syndrome on a spectrum with fevr with osteopenia
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
Endosteal hyperostosis, worth type
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
Camurati-engelmann syndrome
1 shared gene
LRP5
Related via 1 shared gene including LRP5.
1
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