Details of Disease

General Information of Disease (ID: DIS68D74)

Disease Name Retinitis pigmentosa 44
Synonyms retinitis pigmentosa caused by mutation in RGR; retinitis pigmentosa type 44; RP44; RGR retinitis pigmentosa; retinitis pigmentosa 44
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS68D74: Retinitis pigmentosa 44
Disease Identifiers
MONDO ID
MONDO_0013414
UMLS CUI
C3151068
OMIM ID
613769
MedGen ID
462418

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RGR OTKCF5AZ Limited Semidominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.