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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
7 associated genes
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Isolated anophthalmia - microphthalmia

CACNG2 ALDH1A3
CDH15 GDF3
CTNNB1 OTX2
DOCK8 PRSS56
DYNC1H1 RAX
DYRK1A SOX2
EPB41L1 VSX2
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
SOX2



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



Autosomal dominant nonsyndromic intellectual deficit
Isolated anophthalmia - microphthalmia

Synonym(s):
(no synonyms)

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.