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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Sporadic secreting paraganglioma
Ocular albinism with congenital sensorineural deafness

EPAS1 MITF
TYR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPAS1
(0.63)
MITF



Citations in the biomedical literature:


Sporadic secreting paraganglioma
EPAS1
Ocular albinism with congenital sensorineural deafness
MITF TYR



Sporadic secreting paraganglioma
Ocular albinism with congenital sensorineural deafness

Synonym(s):
(no synonyms)

Synonym(s):
- Waardenburg syndrome type 2 with ocular albinism

Classification (Orphanet):
- Rare endocrine disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.