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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to acid maltase deficiency, adult onset
1 associated gene
No signs/symptoms info
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Glycogen storage disease due to acid maltase deficiency, adult onset

EP300
(UniProt - OMIM)
 GAA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EP300
(0.63)
GAA


Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300
Glycogen storage disease due to acid maltase deficiency, adult onset
GAA



Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Glycogen storage disease due to acid maltase deficiency, adult onset

Synonym(s):
(no synonyms)

Synonym(s):
- Alpha-1,4-glucosidase acid deficiency, adult onset
- GSD due to acid maltase deficiency, adult onset
- GSD type 2, adulte onset
- Glycogen storage disease type 2, adult onset
- Glycogenosis due to acid maltase deficiency, adult onset
- Glycogenosis type 2, adult onset
- Pompe disease, adult onset
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.