ODCs

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

PROTEIN INTERACTIONS: 2

1 OMIM reference -
5 associated genes
No signs/symptoms info

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Extraskeletal myxoid chondrosarcoma


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300 EP300	(0.69) (0.63)	TCF12 EWSR1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Extraskeletal myxoid chondrosarcoma

	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 oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

No signs/symptoms info available.