Details of Disease

General Information of Disease (ID: DISZCBRX)

Disease Name Retinitis pigmentosa 88
Synonyms RP88; RETINITIS PIGMENTOSA 88
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISZCBRX: Retinitis pigmentosa 88
Disease Identifiers
MONDO ID
MONDO_0032940
UMLS CUI
C5394208
OMIM ID
618826
MedGen ID
1720448

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
RP1L1 OTRKSQWQ Strong Autosomal recessive [1]
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References

1 Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci. 2009 Aug 5;29(31):9748-60. doi: 10.1523/JNEUROSCI.5854-08.2009.