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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Generalized juvenile polyposis/juvenile polyposis coli
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

BMPR1A MT-CO1
ENG MT-ND4
SMAD4 MT-RNR1
MT-TS1
TRMU


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.63)
MT-ND4



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
MT-CO1 MT-ND4 MT-RNR1 MT-TS1 TRMU



Generalized juvenile polyposis/juvenile polyposis coli
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Synonym(s):
(no synonyms)

Synonym(s):
- Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: mitochondrial inheritance

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

No signs/symptoms info available.