Details of Disease

General Information of Disease (ID: DISZ09B1)

Disease Name Retinitis pigmentosa 11
Synonyms RP 11; retinitis pigmentosa caused by mutation in PRPF31; retinitis pigmentosa 11; PRPF31 retinitis pigmentosa; retinitis pigmentosa type 11; RP11
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.
Disease Hierarchy
DISC0BYD: PRPF31-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISZ09B1: Retinitis pigmentosa 11
Disease Identifiers
MONDO ID
MONDO_0010828
MESH ID
C563991
UMLS CUI
C1838601
OMIM ID
600138
MedGen ID
325055

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
PRPF31 OTSJ0Z1Y Definitive Autosomal dominant [1]
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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.