ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Primary sclerosing cholangitis

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCF4	(0.85)	EP300

Citations in the biomedical literature:

Primary sclerosing cholangitis		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
	Synonym(s): - PSC		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare hepatic 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 digestive system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: C536419		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.