Genopathy
Gene-Disorder Association · Article
Gene
RIMS1
Regulating Synaptic Membrane Exocytosis 1
Disorder
Cone-Rod Dystrophy 2
First reported 1998
Supporting publications 5
Key publication · gene–disorder Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.American journal of human genetics · 1998
Key publication · disorder [Rupture of the umbilical cord and separation of normal placenta during internal version caused by the real shortness of the cord].Obstetricia y ginecologia latino-americanas · 1950
Manually curated
Association Review

In brief

The association between RIMS1 (Regulating Synaptic Membrane Exocytosis 1) and Cone-Rod Dystrophy 2 is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 31
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
RIMS1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Cone-Rod Dystrophy 2

The disorder

17 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

24 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
08
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access