ODCs

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

PROTEIN INTERACTIONS: 1

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

Alagille syndrome due to a NOTCH2 point mutation

Juvenile glaucoma

NOTCH2	(UniProt - OMIM)		CYP1B1	(UniProt - OMIM)
			MYOC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NOTCH2	(0.63)	MYOC

Citations in the biomedical literature:

Alagille syndrome due to a NOTCH2 point mutation		Juvenile glaucoma
	Synonym(s): - Alagille-Watson syndrome due to a NOTCH2 point mutation - Arteriohepatic dysplasia due to a NOTCH2 point mutation - Syndromic bile duct paucity due to a NOTCH2 point mutation		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare hepatic disease - Rare oncologic disease - Rare renal disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - No MeSH references

No signs/symptoms info available.