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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Semantic dementia
Glycogen storage disease due to muscle phosphorylase kinase deficiency

C9ORF72 PHKA1
CHMP2B PHKG1
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
(0.63)
PHKG1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Glycogen storage disease due to muscle phosphorylase kinase deficiency
PHKA1 PHKG1



Semantic dementia
Glycogen storage disease due to muscle phosphorylase kinase deficiency

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

Synonym(s):
- GSD due to muscle phosphorylase kinase deficiency
- GSD type 9D
- GSD type 9E
- GSD type IXd
- GSD type IXe
- Glycogen storage disease type 9D
- Glycogen storage disease type 9E
- Glycogen storage disease type IXd
- Glycogen storage disease type IXe
- Glycogenosis due to muscle phosphorylase kinase deficiency
- Glycogenosis type 9D
- Glycogenosis type 9E
- Glycogenosis type IXd
- Glycogenosis type IXe

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.