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

MITF CTNNB1
TYR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MITF
(0.52)
CTNNB1



Citations in the biomedical literature:


Ocular albinism with congenital sensorineural deafness
MITF TYR
Pilomatrixoma
CTNNB1



Ocular albinism with congenital sensorineural deafness
Pilomatrixoma

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

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

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

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018296

No signs/symptoms info available.