Details of Disease

General Information of Disease (ID: DISTXQ7Y)

Disease Name Retinitis pigmentosa 86
Synonyms RP86; RETINITIS PIGMENTOSA 86
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISTXQ7Y: Retinitis pigmentosa 86
Disease Identifiers
MONDO ID
MONDO_0032834
UMLS CUI
C5231428
OMIM ID
618613
MedGen ID
1684789

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
KIAA1549 OTA5B18F Strong Autosomal recessive [1]
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References

1 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.