Details of Disease | DrugMAP

General Information of Disease (ID: DISEQFM4)

Disease Name	Retinitis pigmentosa 67
Synonyms	retinitis pigmentosa 67; retinitis pigmentosa caused by mutation in NEK2; RP67; NEK2 retinitis pigmentosa; retinitis pigmentosa type 67
Definition	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DISEQFM4: Retinitis pigmentosa 67
Disease Identifiers	MONDO ID MONDO_0014256 UMLS CUI C3809954 OMIM ID 615565 MedGen ID 816284

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NEK2	TT3VZ24	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEK2	OT1H27HO	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.