Details of Disease

General Information of Disease (ID: DIS84K4C)

Disease Name Retinitis pigmentosa 70
Synonyms retinitis pigmentosa 70; retinitis pigmentosa type 70; RP70; retinitis pigmentosa caused by mutation in PRPF4; PRPF4 retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS84K4C: Retinitis pigmentosa 70
Disease Identifiers
MONDO ID
MONDO_0014400
UMLS CUI
C4014681
OMIM ID
615922
MedGen ID
863118

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
PRPF4 OTK0XRQN Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.