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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Familial short QT syndrome
Distal 17p13.3 microdeletion syndrome

CACNA2D1 YWHAE
KCNH2
KCNJ2
KCNQ1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KCNH2
(0.79)
YWHAE



Citations in the biomedical literature:


Familial short QT syndrome
CACNA2D1 KCNH2 KCNJ2 KCNQ1
Distal 17p13.3 microdeletion syndrome
YWHAE



Familial short QT syndrome
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- SQTS

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.