Details of Disease

General Information of Disease (ID: DISIOY2J)

Disease Name Cone dystrophy 4
Synonyms COD4; achromatopsia 5; cone dystrophy 4; PDE6C cone dystrophy; cone dystrophy caused by mutation in PDE6C; cone dystrophy type 4
Definition Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.
Disease Hierarchy
DIS7SAZZ: Cone dystrophy
DISIOY2J: Cone dystrophy 4
Disease Identifiers
MONDO ID
MONDO_0013129
MESH ID
C567758
UMLS CUI
C2751308
OMIM ID
613093
MedGen ID
416518

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
PDE6C OTE7EVWQ Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.