Details of Disease

General Information of Disease (ID: DISR2JGV)

Disease Name Retinitis pigmentosa 30
Synonyms macular Degeneration; RP 30; FSCN2 retinitis pigmentosa; retinitis pigmentosa caused by mutation in FSCN2; retinitis pigmentosa 30; retinitis pigmentosa type 30; RP30
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISR2JGV: Retinitis pigmentosa 30
Disease Identifiers
MONDO ID
MONDO_0011935
UMLS CUI
C1842816
OMIM ID
607921
MedGen ID
334614

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
FSCN2 OTADS8G3 Disputed Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.