Details of Disease

General Information of Disease (ID: DIS5Y7CF)

Disease Name Retinitis pigmentosa 37
Synonyms retinitis pigmentosa type 37; retinitis pigmentosa 37; RP37; retinitis pigmentosa caused by mutation in NR2E3; NR2E3 retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS5Y7CF: Retinitis pigmentosa 37
Disease Identifiers
MONDO ID
MONDO_0012625
MESH ID
C567005
UMLS CUI
C1970163
OMIM ID
611131
MedGen ID
410004

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
NR2E3 OTO3GBHQ Definitive Autosomal dominant [1]
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References

1 Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007 Jul;81(1):147-57. doi: 10.1086/518426. Epub 2007 May 24.