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13 OMIM references -
10 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 associated genes
No signs/symptoms info
Nuclear cataract
Heritable pulmonary arterial hypertension

CRYAA ACVRL1
CRYBB1 BMPR2
CRYBB2 CAV1
CRYBB3 CBLN2
CRYGD KCNK3
FYCO1 SMAD9
GJA3 TBX4
MIP
NHS
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA3
(0.55)
CAV1



Citations in the biomedical literature:


Nuclear cataract
CRYAA CRYBB1 CRYBB2 CRYBB3 CRYGD FYCO1
GJA3 MIP NHS WFS1
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Nuclear cataract
Heritable pulmonary arterial hypertension

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.