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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Isolated focal cortical dysplasia type IIb
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

TSC1 PKD1
TSC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.97)
TSC2



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
PKD1 TSC2



Isolated focal cortical dysplasia type IIb
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Synonym(s):
- FCD type IIb

Synonym(s):
- Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.