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6 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Congenital fibrosis of extraocular muscles
Glycogen storage disease due to liver phosphorylase kinase deficiency

KIF21A PHKA2
PHOX2A PHKG2
TUBB2B
TUBB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB2B
(0.63)
PHKG2



Citations in the biomedical literature:


Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3
Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2



Congenital fibrosis of extraocular muscles
Glycogen storage disease due to liver phosphorylase kinase deficiency

Synonym(s):
- FEOM

Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.