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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated delta-storage pool disease
2 associated genes
No signs/symptoms info
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Isolated delta-storage pool disease

EP300
(UniProt - OMIM)
 FLI1
(UniProt - OMIM)
RUNX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EP300
(0.84)
RUNX1


Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300
Isolated delta-storage pool disease
FLI1 RUNX1



Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Isolated delta-storage pool disease

Synonym(s):
(no synonyms)

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
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):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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.