Details of Disease

General Information of Disease (ID: DISHLM3S)

Disease Name Retinitis pigmentosa 9
Synonyms RP 9; RP9; retinitis pigmentosa caused by mutation in RP9; retinitis pigmentosa 9; RP9 retinitis pigmentosa; retinitis pigmentosa type 9
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISHLM3S: Retinitis pigmentosa 9
Disease Identifiers
MONDO ID
MONDO_0008378
UMLS CUI
C1867300
OMIM ID
180104
MedGen ID
356743

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LPIN1 OTQ75KF2 moderate Genetic Variation [1]
METTL9 OT3YR9B2 moderate Genetic Variation [1]
RP9 OTGQY66H Strong Autosomal dominant [2]
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References

1 PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.Exp Cell Res. 2004 Nov 1;300(2):283-96. doi: 10.1016/j.yexcr.2004.07.029.
2 Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797.