Details of Disease

General Information of Disease (ID: DIS264FU)

Disease Name Retinitis pigmentosa 69
Synonyms retinitis pigmentosa type 69; retinitis pigmentosa caused by mutation in KIZ; RP69; KIZ retinitis pigmentosa; retinitis pigmentosa 69
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISJYB3O: KIZ-related retinopathy
DIS264FU: Retinitis pigmentosa 69
Disease Identifiers
MONDO ID
MONDO_0014345
UMLS CUI
C4014312
OMIM ID
615780
MedGen ID
862749

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
KIZ OT5VCKSM Strong Autosomal recessive [1]
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References

1 Expression and functional analysis of Gm114, a putative mammalian ortholog of Drosophila bam. Dev Biol. 2008 Jun 1;318(1):73-81. doi: 10.1016/j.ydbio.2008.03.001. Epub 2008 Mar 14.