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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated delta-storage pool disease
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

FLI1 CREBBP
RUNX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX1
(0.82)
CREBBP



Citations in the biomedical literature:


Isolated delta-storage pool disease
FLI1 RUNX1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Isolated delta-storage pool disease
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic 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 (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

No signs/symptoms info available.