Details of Disease | DrugMAP

General Information of Disease (ID: DISVZZ56)

Disease Name	Retinitis pigmentosa 80
Synonyms	RETINITIS pigmentosa 80; RP80
Disease Hierarchy	DISKDRMB: IFT140-related recessive ciliopathy DISHMOL5: Retinal ciliopathy DISCGPY8: Retinitis pigmentosa DISVZZ56: Retinitis pigmentosa 80
Disease Identifiers	MONDO ID MONDO_0054708 UMLS CUI C4540439 OMIM ID 617781 MedGen ID 1619674

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
IFT140	OT6KO5FH	Strong	Autosomal recessive	[1]
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References

1	Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28.