Details of Disease | DrugMAP

General Information of Disease (ID: DISRKC0Q)

Disease Name	Retinitis pigmentosa 78
Synonyms	RP78; retinitis pigmentosa 78
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DISRKC0Q: Retinitis pigmentosa 78
Disease Identifiers	MONDO ID MONDO_0044314 UMLS CUI C4479481 OMIM ID 617433 MedGen ID 1378790

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
ARHGEF18	OTOXEK8Y	Strong	Autosomal recessive	[1]
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References

1	Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26.