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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation

JAG1 NOTCH2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAG1
(0.89)
NOTCH2



Citations in the biomedical literature:


Alagille syndrome due to a JAG1 point mutation
JAG1
Alagille syndrome due to a NOTCH2 point mutation
NOTCH2



Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation

Synonym(s):
- Alagille-Watson syndrome due to a JAG1 point mutation
- Arteriohepatic dysplasia due to a JAG1 point mutation
- Syndromic bile duct paucity due to a JAG1 point mutation

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

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 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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

No signs/symptoms info available.