Cytoscape Web
Click node...

Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Thrombocytopenia with congenital dyserythropoietic anemia
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Thrombocytopenia with congenital dyserythropoietic anemia

IL12A
(UniProt - OMIM)
 GATA1
(UniProt - OMIM)
IL12RB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)
MMEL1
(UniProt)
POU2AF1
(UniProt - OMIM)
SPIB
(UniProt - OMIM)
TNFSF15
(UniProt - OMIM)
TNPO3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SPIB
(0.56)
GATA1


Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Thrombocytopenia with congenital dyserythropoietic anemia
GATA1



Primary biliary cirrhosis
Thrombocytopenia with congenital dyserythropoietic anemia

Synonym(s):
- Hanot syndrome
Synonym(s):
- Congenital dyserythropoietic anemia with thombocytopenia
- X-linked congenital dyserythropoietic anemia with thrombocytopenia
- XDAT
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.