Details of Disease

General Information of Disease (ID: DISSKGAD)

Disease Name Retinitis pigmentosa 72
Synonyms retinitis pigmentosa caused by mutation in ZNF408; ZNF408 retinitis pigmentosa; RP72; retinitis pigmentosa type 72; retinitis pigmentosa 72
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISSKGAD: Retinitis pigmentosa 72
Disease Identifiers
MONDO ID
MONDO_0014653
UMLS CUI
C4225315
OMIM ID
616469
MedGen ID
895867

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
ZNF408 OTWMFQPN Strong Autosomal recessive [1]
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References

1 Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa. Ophthalmic Genet. 2017 Sep-Oct;38(5):494-497. doi: 10.1080/13816810.2016.1275020. Epub 2017 Jan 17.