Details of Disease | DrugMAP

General Information of Disease (ID: DIS4ABQE)

Disease Name	Retinitis pigmentosa 95
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DIS4ABQE: Retinitis pigmentosa 95
Disease Identifiers	MONDO ID MONDO_0859308 UMLS CUI C5774244 OMIM ID 620102 MedGen ID 1824017

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
RAX2	OT1HD6CF	Strong	Autosomal recessive	[1]
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References

1	Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31.