Details of Disease

General Information of Disease (ID: DISUGKOX)

Disease Name Retinitis pigmentosa 61
Synonyms CLRN1 retinitis pigmentosa; retinitis pigmentosa 61; RP61; retinitis pigmentosa type 61; retinitis pigmentosa caused by mutation in CLRN1
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISUGKOX: Retinitis pigmentosa 61
Disease Identifiers
MONDO ID
MONDO_0013610
UMLS CUI
C3280041
OMIM ID
614180
MedGen ID
481671

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
CLRN1 OT1ADI7Q Strong Autosomal recessive [1]
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References

1 CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18.