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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 associated genes
No signs/symptoms info
Semilobar holoprosencephaly
Heritable pulmonary arterial hypertension

CDON ACVRL1
DISP1 BMPR2
DLL1 CAV1
FGF8 CBLN2
FOXH1 KCNK3
GAS1 SMAD9
GLI2 TBX4
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
(0.63)
CAV1



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Semilobar holoprosencephaly
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 endocrine disease
- Rare genetic disease
- Rare neurologic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.