Details of Disease

General Information of Disease (ID: DISBF5TV)

Disease Name Retinitis pigmentosa 68
Synonyms SLC7A14 retinitis pigmentosa; retinitis pigmentosa type 68; retinitis pigmentosa 68; RP68; retinitis pigmentosa caused by mutation in SLC7A14
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISBF5TV: Retinitis pigmentosa 68
Disease Identifiers
MONDO ID
MONDO_0014323
UMLS CUI
C3810380
OMIM ID
615725
MedGen ID
816710

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
SLC7A14 OT07YJW4 Strong Autosomal recessive [1]
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References

1 SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun. 2014 Mar 27;5:3517. doi: 10.1038/ncomms4517.