ODCs

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

PROTEIN INTERACTIONS: 2

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

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Familial rhabdoid tumor

CREBBP	(UniProt - OMIM)		SMARCA4	(UniProt - OMIM)
			SMARCB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP CREBBP	(0.83) (0.75)	SMARCB1 SMARCA4

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Familial rhabdoid tumor
	Synonym(s): (no synonyms)		Synonym(s): - RTPS - Rhabdoid tumor predisposition syndrome

	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 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 / 1 000 000 Average age onset: childhood Average age of death: - 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.