Details of Disease | DrugMAP

General Information of Disease (ID: DIS5P81S)

Disease Name	Retinitis pigmentosa 42
Synonyms	retinitis pigmentosa caused by mutation in KLHL7; RP42; retinitis pigmentosa type 42; KLHL7 retinitis pigmentosa; retinitis pigmentosa 42
Definition	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DIS5P81S: Retinitis pigmentosa 42
Disease Identifiers	MONDO ID MONDO_0013052 UMLS CUI C2751986 OMIM ID 612943 MedGen ID 442864

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
KLHL7	OT2OF1O8	Strong	Autosomal dominant	[1]
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References

1	Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.