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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
9 associated genes
13 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Tetralogy of Fallot

BMPR1A CITED2
ENG GATA4
SMAD4 GATA5
GATA6
GDF1
GJA5
JAG1
NKX2-5
ZFPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.63)
NKX2-5



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Tetralogy of Fallot
CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
JAG1 NKX2-5 ZFPM2



Generalized juvenile polyposis/juvenile polyposis coli
Tetralogy of Fallot

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

Classification (ICD10):
- Neoplasms -
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:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013771

Tetralogy of Fallot

Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes



Generalized juvenile polyposis/juvenile polyposis coli

(no data available)