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Fontaine progeroid syndrome
Fontaine progeroid syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Fontaine progeroid syndrome
MONDO_0012853
SLC25A24
Causal
29100093
29100094
29903433
31775791
ClinGen
,
Open Targets
—
SLC25A4
Unknown
30329211
27693233
30046662
Open Targets
Calcium signaling pathway
cGMP-PKG signaling pathway
Necroptosis
Cellular senescence
Neutrophil extracellular trap formation
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Influenza A
Human T-cell leukemia virus 1 infection
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
Mitochondrial protein import
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
+15 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
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Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
1 shared gene
SLC25A4
Related via 1 shared gene including SLC25A4.
Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number
1 shared gene
SLC25A4
Related via 1 shared gene including SLC25A4.
Progressive external ophthalmoplegia with mitochondrial dna deletions 3
1 shared gene
SLC25A4
Related via 1 shared gene including SLC25A4.
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2
1 shared gene
SLC25A4
Related via 1 shared gene including SLC25A4.
Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss syndrome )
1 shared gene
SLC25A24
Related via 1 shared gene including SLC25A24.
1
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