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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Craniopharyngioma

ADAR BRAF
MT-ATP6 CTNNB1
NUP62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NUP62
(0.63)
CTNNB1



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Craniopharyngioma
BRAF CTNNB1



Familial infantile bilateral striatal necrosis
Craniopharyngioma

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D003397

No signs/symptoms info available.