Details of Disease | DrugMAP

General Information of Disease (ID: DISWKKB9)

Disease Name	Retinitis pigmentosa 79
Synonyms	RP79; retinitis pigmentosa 79
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DISWKKB9: Retinitis pigmentosa 79
Disease Identifiers	MONDO ID MONDO_0044320 UMLS CUI C4479526 OMIM ID 617460 MedGen ID 1386200

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	moderate	Genetic Variation	[1]
HK1	DEDMAGE	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HK1	OTMPHE8O	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	The phenotypic variability of HK1-associated retinal dystrophy.Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3.
2	A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419.