ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Familial drusen

EP300	(UniProt - OMIM)		CFH	(UniProt - OMIM)
			EFEMP1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Familial drusen
	Synonym(s): (no synonyms)		Synonym(s): - DHRD - Dominant drusen - Dominant radial drusen - Doyne honeycomb retinal dystrophy - Malattia leventinese

	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 eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

No signs/symptoms info available.