GeDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Maffucci syndrome
Maffucci syndrome
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
MAFFUCCI SYNDROME
C0024454
163634
MONDO:0013808
COL2A1
Causal
—
Disgenet
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Protein digestion and absorption
Human papillomavirus infection
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
+14 more
HIF1A
Causal
—
Disgenet
HIF-1 signaling pathway
Mitophagy - animal
Autophagy - animal
Efferocytosis
Th17 cell differentiation
Thyroid hormone signaling pathway
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Renal cell carcinoma
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Regulation of gene expression by Hypoxia-inducible Factor
Cellular response to hypoxia
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
PTK6 Expression
PTK6 promotes HIF1A stabilization
Neddylation
+19 more
IDH1
Causal
22057234
22057236
Disgenet
,
GenCC
,
Orphanet
Citrate cycle (TCA cycle)
Glutathione metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
Peroxisome
Central carbon metabolism in cancer
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
NADPH regeneration
Neutrophil degranulation
Peroxisomal protein import
+9 more
IDH2
Causal
22057234
22057236
Disgenet
,
Orphanet
Citrate cycle (TCA cycle)
Glutathione metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
Peroxisome
Central carbon metabolism in cancer
Transcriptional activation of mitochondrial biogenesis
Citric acid cycle (TCA cycle)
+7 more
All
9
Causal
4
Unknown
5
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
4
CTD
0
HPO
0
GWAS catalog
0
GenCC
1
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Maffucci syndrome.
5
View disease cluster →
Chordoma
2 shared genes
IDH2, IDH1
Related via 2 shared genes including IDH2, IDH1.
Collagenopathy
1 shared gene
COL2A1
Related via 1 shared gene including COL2A1.
Coxa plana
1 shared gene
COL2A1
Related via 1 shared gene including COL2A1.
Czech dysplasia
1 shared gene
COL2A1
Related via 1 shared gene including COL2A1.
Dysspondyloenchondromatosis
1 shared gene
COL2A1
Related via 1 shared gene including COL2A1.
1
GeDiPNet AI Assistant
Online