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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 associated genes
No signs/symptoms info
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Heritable pulmonary arterial hypertension

NF1 ACVRL1
BMPR2
CAV1
CBLN2
KCNK3
SMAD9
TBX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NF1
(0.63)
CAV1



Citations in the biomedical literature:


Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
NF1
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Heritable pulmonary arterial hypertension

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

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension

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 respiratory disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

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

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

No signs/symptoms info available.