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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
9 OMIM references -
8 associated genes
No signs/symptoms info
Semilobar holoprosencephaly
Colobomatous microphthalmia

CDON ABCB6
DISP1 GDF3
DLL1 GDF6
FGF8 SHH
FOXH1 SOX2
GAS1 STRA6
GLI2 TENM3
NODAL VSX2
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


COMMON
GENES
SHH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
GAS1
(0.59)
(0.55)
SHH
SHH



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SOX2 STRA6
TENM3 VSX2



Semilobar holoprosencephaly
Colobomatous microphthalmia

Synonym(s):
(no synonyms)

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
9 OMIM references -
No MeSH references

No signs/symptoms info available.