Cytoscape Web
Click node...


1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Isolated aniridia

BMPR1A PAX6
ENG
SMAD4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.63)
PAX6



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Isolated aniridia
PAX6



Generalized juvenile polyposis/juvenile polyposis coli
Isolated aniridia

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Isolated aniridia

Very frequent
- Aniridia / iris hypoplasia
- Autosomal dominant inheritance
- Macular dystrophy / absence / hypoplasia of the macula
- Nystagmus
- Visual loss / blindness / amblyopia

Frequent
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Glaucoma



Generalized juvenile polyposis/juvenile polyposis coli

(no data available)