Details of Disease

General Information of Disease (ID: DISC6HRE)

Disease Name Retinitis pigmentosa 58
Synonyms retinitis pigmentosa type 58; retinitis pigmentosa caused by mutation in ZNF513; retinitis pigmentosa 58; ZNF513 retinitis pigmentosa; RP58
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISC6HRE: Retinitis pigmentosa 58
Disease Identifiers
MONDO ID
MONDO_0013328
UMLS CUI
C3150879
OMIM ID
613617
MedGen ID
462229

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
ZNF513 OT7XXXCX Limited Unknown [1]
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References

1 A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. Am J Ophthalmol. 2010 May;149(5):861-6. doi: 10.1016/j.ajo.2009.12.034. Epub 2010 Mar 15.