Details of Disease

General Information of Disease (ID: DIS05ZKQ)

Disease Name Retinitis pigmentosa 84
Synonyms RP84; RETINITIS PIGMENTOSA 84
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS05ZKQ: Retinitis pigmentosa 84
Disease Identifiers
MONDO ID
MONDO_0032604
UMLS CUI
C4748725
OMIM ID
618220
MedGen ID
1648352

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
DHX38 OTBVB3W5 Strong Autosomal recessive [1]
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References

1 A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15.