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Cenani-lenz syndrome
Cenani-lenz syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CENANI-LENZ SYNDACTYLY SYNDROME
MONDO:0008931
APC
Unknown
25676610
GWAS catalog
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Regulation of actin cytoskeleton
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Colorectal cancer
Endometrial cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Apoptotic cleavage of cellular proteins
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
Deactivation of the beta-catenin transactivating complex
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants are not K63 polyubiquitinated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Ovarian tumor domain proteases
+28 more
CENANI-LENZ SYNDROME
3258
APC
Unknown
25676610
Orphanet
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Regulation of actin cytoskeleton
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Colorectal cancer
Endometrial cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Apoptotic cleavage of cellular proteins
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
Deactivation of the beta-catenin transactivating complex
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants are not K63 polyubiquitinated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Ovarian tumor domain proteases
+28 more
LRP4
Unknown
20381006
23636941
Orphanet
—
All
2
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Cenani-lenz syndrome.
5
View disease cluster →
Brain tumor-polyposis syndrome
1 shared gene
APC
Related via 1 shared gene including APC.
Familial adenomatous polyposis
1 shared gene
APC
Related via 1 shared gene including APC.
gastric adenocarcinoma and proximal polyposis of the stomach
1 shared gene
APC
Related via 1 shared gene including APC.
congenital myasthenic syndrome 17
1 shared gene
LRP4
Related via 1 shared gene including LRP4.
Sclerosteosis
1 shared gene
LRP4
Related via 1 shared gene including LRP4.
1
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