Cytoscape Web
Click node...


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

CDON NOTCH2
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DLL1
(0.89)
NOTCH2



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Alagille syndrome due to a NOTCH2 point mutation
NOTCH2



Microform holoprosencephaly
Alagille syndrome due to a NOTCH2 point mutation

Synonym(s):
- Microform HPE

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):
(no data available)
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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: multigenic/multifactorial
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.