ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

2 associated genes
No signs/symptoms info

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

EP300	(UniProt - OMIM)		CREBBP	(UniProt - OMIM)
			KAT6A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300 EP300	(0.84) (0.63)	CREBBP KAT6A

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Acute myeloid leukemia with t(8;16)(p11;p13) translocation

	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 hematologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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.