Details of Disease

General Information of Disease (ID: DISZFLFA)

Disease Name Usher syndrome type 1G
Synonyms Usher syndrome, type 1G; USHER syndrome, type Ig; USH1G; Usher syndrome type 1G; USH1G Usher syndrome; Usher syndrome type Ig; Usher syndrome caused by mutation in USH1G
Definition Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DISR29E4: Usher syndrome type 1
DISZFLFA: Usher syndrome type 1G
Disease Identifiers
MONDO ID
MONDO_0011748
UMLS CUI
C1847089
OMIM ID
606943
MedGen ID
339683

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USH1G OTLM6717 Definitive Autosomal recessive [1]
IL36RN OT5CO95A Strong Biomarker [2]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Identification of stage-specific biomarkers in lung adenocarcinoma based on RNA-seq data.Tumour Biol. 2015 Aug;36(8):6391-9. doi: 10.1007/s13277-015-3327-0. Epub 2015 Apr 11.