Details of Disease

General Information of Disease (ID: DISVH54A)

Disease Name Retinitis pigmentosa 43
Synonyms retinitis pigmentosa 43; RP43; PDE6A retinitis pigmentosa; retinitis pigmentosa type 43; retinitis pigmentosa caused by mutation in PDE6A
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.
Disease Hierarchy
DISFCJHY: PDE6A-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISVH54A: Retinitis pigmentosa 43
Disease Identifiers
MONDO ID
MONDO_0013437
UMLS CUI
C3151139
OMIM ID
613810
MedGen ID
462489

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
PDE6A OTPUTR2K Definitive Autosomal recessive [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.