Cytoscape Web
Click node...

Alagille syndrome due to a JAG1 point mutation
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Alagille syndrome due to 20p12 microdeletion
Tetralogy of Fallot
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
CADASIL
Infantile myofibromatosis
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
Essential thrombocythemia
Left ventricular noncompaction
Myelofibrosis with myeloid metaplasia
Dowling-Degos disease
Neonatal inflammatory skin and bowel disease
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
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 -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
JAG1 P78504601920
No signs/symptoms info available.