Details of Disease

General Information of Disease (ID: DIS1KF7Q)

Disease Name Retinitis pigmentosa 62
Synonyms retinitis pigmentosa type 62; retinitis pigmentosa caused by mutation in MAK; retinitis pigmentosa 62; MAK retinitis pigmentosa; RP62
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
Disease Hierarchy
DISGZ2VR: MAK-related retinopathy
DISCGPY8: Retinitis pigmentosa
DIS1KF7Q: Retinitis pigmentosa 62
Disease Identifiers
MONDO ID
MONDO_0013611
UMLS CUI
C3280042
OMIM ID
614181
MedGen ID
481672

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
MAK OTEU2G41 Definitive Autosomal recessive [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.