Cytoscape Web
Click node...

Isolated optic nerve hypoplasia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Ocular albinism with congenital sensorineural deafness
1 OMIM reference -
2 associated genes
No signs/symptoms info
Isolated optic nerve hypoplasia
Ocular albinism with congenital sensorineural deafness

PAX6
(UniProt - OMIM)
 MITF
(UniProt - OMIM)
TYR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PAX6
(0.92)
MITF


Citations in the biomedical literature:


Isolated optic nerve hypoplasia
PAX6
Ocular albinism with congenital sensorineural deafness
MITF TYR



Isolated optic nerve hypoplasia
Ocular albinism with congenital sensorineural deafness

Synonym(s):
(no synonyms)

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.