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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
13 OMIM references -
14 associated genes
No signs/symptoms info
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Autosomal dominant nonsyndromic intellectual deficit

NF1 CACNG2
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NF1
NF1
(0.59)
(0.14)
GRIN1
DYNC1H1



Citations in the biomedical literature:


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
NF1
Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4



Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Autosomal dominant nonsyndromic intellectual deficit

Synonym(s):
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

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

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

No signs/symptoms info available.