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Perniola krajewska carnevale syndrome
Perniola krajewska carnevale syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PERNIOLA KRAJEWSKA CARNEVALE SYNDROME
C2931280
AHSG
Unknown
—
Disgenet
Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
+1 more
ITGB6
Unknown
—
Disgenet
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
ECM proteoglycans
+10 more
LSS
Unknown
—
Disgenet
Steroid biosynthesis
Metabolic pathways
Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)
+1 more
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
3
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Perniola krajewska carnevale syndrome.
5
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Alopecia-intellectual disability syndrome
2 shared genes
AHSG, LSS
Related via 2 shared genes including AHSG, LSS.
Amr syndrome
1 shared gene
AHSG
Related via 1 shared gene including AHSG.
Palmoplantar keratoderma and congenital alopecia
1 shared gene
LSS
Related via 1 shared gene including LSS.
Cataract-alopecia-sclerodactyly syndrome
1 shared gene
LSS
Related via 1 shared gene including LSS.
Hypotrichosis simplex
1 shared gene
LSS
Related via 1 shared gene including LSS.
1
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