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Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mowat-Wilson syndrome due to monosomy 2q22
1 associated gene
No signs/symptoms info
Heritable pulmonary arterial hypertension
Mowat-Wilson syndrome due to monosomy 2q22

ACVRL1
(UniProt - OMIM)
 ZEB2
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SMAD9
(0.63)
ZEB2


Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
Mowat-Wilson syndrome due to monosomy 2q22
ZEB2



Heritable pulmonary arterial hypertension
Mowat-Wilson syndrome due to monosomy 2q22

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Synonym(s):
- Hirschsprung disease and intellectual deficit due to 2q22 microdeletion
- Hirschsprung disease and intellectual deficit due to del(2)(q22)
- Hirschsprung disease and intellectual deficit due to monosomy 2q22
- Mowat-Wilson syndrome due to 2q22 microdeletion
- Mowat-Wilson syndrome due to del(2)q(22)
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.