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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
Neonatal inflammatory skin and bowel disease
Alagille syndrome due to 20p12 microdeletion

ADAM17 JAG1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADAM17
(0.49)
JAG1



Citations in the biomedical literature:


Neonatal inflammatory skin and bowel disease
ADAM17
Alagille syndrome due to 20p12 microdeletion
JAG1



Neonatal inflammatory skin and bowel disease
Alagille syndrome due to 20p12 microdeletion

Synonym(s):
(no synonyms)

Synonym(s):
- Alagille syndrome due to del(20)(p12)
- Alagille syndrome due to monosomy 20p12
- Alagille-Watson syndrome due to monosomy 20p12
- Arteriohepatic dysplasia due to monosomy 20p12
- Syndromic bile duct paucity due to monosomy 20p12

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare skin 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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
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.