Cytoscape Web
Click node...

Supravalvular aortic stenosis
1 OMIM reference -
1 associated gene
1 sign/symptom
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
Supravalvular aortic stenosis
B-cell chronic lymphocytic leukemia

ELN
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ELN
(0.63)
IGHG1


Citations in the biomedical literature:


Supravalvular aortic stenosis
ELN
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



Supravalvular aortic stenosis
B-cell chronic lymphocytic leukemia

Synonym(s):
- SVAS
- Supravalvar aortic stenosis
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D021921
External references:
6 OMIM references -
1 MeSH reference: D015451
Supravalvular aortic stenosis

Very frequent
- Cardiac rhythm disorder / arrhythmia



B-cell chronic lymphocytic leukemia

(no data available)