Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
12 associated genes
No signs/symptoms info
Atelosteogenesis type I
Hereditary nonpolyposis colon cancer

FLNB BMPR1A
EPCAM
KRAS
LRRFIP2
MLH1
MLH3
MSH2
MSH6
PIK3CA
PMS1
PMS2
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
MLH1



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Hereditary nonpolyposis colon cancer
BMPR1A EPCAM KRAS LRRFIP2 MLH1 MLH3
MSH2 MSH6 PIK3CA PMS1 PMS2 TGFBR2



Atelosteogenesis type I
Hereditary nonpolyposis colon cancer

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
- Familial nonpolyposis colon cancer
- Familial nonpolyposis colorectal cancer
- HNPCC
- Hereditary nonpolyposis colorectal cancer
- Lynch syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
7 OMIM references -
1 MeSH reference: D003123

No signs/symptoms info available.