Details of Disease

General Information of Disease (ID: DISWTUHR)

Disease Name Usher syndrome type 1B
Synonyms Usher syndrome, type 1B
Definition Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene
Disease Hierarchy
DIS9YIS7: Usher syndrome
DISR29E4: Usher syndrome type 1
DISWTUHR: Usher syndrome type 1B
Disease Identifiers
MONDO ID
MONDO_0700087
MESH ID
C536485
UMLS CUI
C2931206
MedGen ID
419358

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP3B1 OTYTIH5Q Strong Genetic Variation [1]
ASH1L OTUT5NLJ Strong Genetic Variation [2]
FGL1 OTT0QHQ1 Strong Genetic Variation [1]
HPS1 OTKS5I7T Strong Genetic Variation [1]
MYO7A OTBZSPEL Definitive Autosomal recessive [3]
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References

1 Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.Hum Mutat. 2006 May;27(5):402-7. doi: 10.1002/humu.20309.
2 Unconventional myosins and the genetics of hearing loss.Am J Med Genet. 1999 Sep 24;89(3):147-57. doi: 10.1002/(sici)1096-8628(19990924)89:3<147::aid-ajmg5>3.0.co;2-6.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.