Details of Disease

General Information of Disease (ID: DISVA5ZE)

Disease Name Cone-rod dystrophy 7
Synonyms cone-rod dystrophy 7; RIMS1 cone-rod dystrophy; CORD7; cone-rod dystrophy type 7; cone-rod dystrophy caused by mutation in RIMS1
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISVA5ZE: Cone-rod dystrophy 7
Disease Identifiers
MONDO ID
MONDO_0011355
MESH ID
C566350
UMLS CUI
C1863634
OMIM ID
603649
MedGen ID
355026

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
ELOVL4 OT2M9W26 Strong Biomarker [1]
RAB3A OT2GIUO5 Strong Genetic Variation [2]
RIMS1 OT10T7CK Strong Autosomal dominant [3]
------------------------------------------------------------------------------------

References

1 Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):248-55.
2 Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics. 2003 Mar;81(3):304-14. doi: 10.1016/s0888-7543(03)00010-7.
3 RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone. Nature. 2002 Jan 17;415(6869):321-6. doi: 10.1038/415321a.