Details of Disease | DrugMAP

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]
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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.