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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 associated genes
No signs/symptoms info
Glycogen storage disease due to liver phosphorylase kinase deficiency
Melanoma of soft part

PHKA2 ATF1
PHKG2 CREB1
EWSR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PHKG2
(0.63)
EWSR1



Citations in the biomedical literature:


Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2
Melanoma of soft part
ATF1 CREB1 EWSR1



Glycogen storage disease due to liver phosphorylase kinase deficiency
Melanoma of soft part

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

Synonym(s):
- Clear cell sarcoma of soft tissue
- Clear cell sarcoma of the tendons and aponeuroses

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.