Details of Disease

General Information of Disease (ID: DIS5X7WV)

Disease Name Retinitis pigmentosa 77
Synonyms RP77; REEP6 retinitis pigmentosa; retinitis pigmentosa type 77; retinitis pigmentosa 77; retinitis pigmentosa caused by mutation in REEP6
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS5X7WV: Retinitis pigmentosa 77
Disease Identifiers
MONDO ID
MONDO_0015013
UMLS CUI
C4310626
OMIM ID
617304
MedGen ID
934593

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
REEP6 OTY4FPO8 Strong Autosomal recessive [1]
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References

1 Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Hum Mol Genet. 2014 Aug 15;23(16):4260-71. doi: 10.1093/hmg/ddu143. Epub 2014 Apr 1.