Cytoscape Web
Click node...


13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
8 OMIM references -
9 associated genes
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Familial thoracic aortic aneurysm and aortic dissection

CACNG2 ACTA2
CDH15 FBN1
CTNNB1 MYH11
DOCK8 MYLK
DYNC1H1 PRKG1
DYRK1A SMAD3
EPB41L1 TGFB2
GRIN1 TGFBR1
GRIN2B TGFBR2
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
CTNNB1
DYRK1A
CTNNB1
(0.84)
(0.73)
(0.72)
(0.52)
SMAD3
TGFBR2
SMAD3
TGFBR1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Autosomal dominant nonsyndromic intellectual deficit
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
(no synonyms)

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
No MeSH references
External references:
8 OMIM references -
No MeSH references

No signs/symptoms info available.