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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
10 associated genes
No signs/symptoms info
Semantic dementia
Early infantile epileptic encephalopathy

C9ORF72 ARX
CHMP2B CACNA2D2
GRN GNAO1
MAPT KCNQ2
PSEN1 PLCB1
VCP SCN2A
SCN8A
SLC25A22
SPTAN1
STXBP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
(0.73)
STXBP1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Early infantile epileptic encephalopathy
ARX CACNA2D2 GNAO1 KCNQ2 PLCB1 SCN2A
SCN8A SLC25A22 SPTAN1 STXBP1



Semantic dementia
Early infantile epileptic encephalopathy

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- EIEE
- Early infantile epileptic encephalopathy with suppression-bursts
- Ohtahara syndrome

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
9 OMIM references -
No MeSH references

No signs/symptoms info available.