Genopathy
Gene-Disorder Association · Article
Gene
CABP4
Calcium Binding Protein 4
Disorder
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
First reported 2013
Supporting publications 8
Key publication · gene–disorder Clinical characterisation of the CABP4-related retinal phenotype.The British journal of ophthalmology · 2013
Key publication · disorder Prolactin levels and molecular heterogeneity in rat strains with high and low incidence of DMBA-induced mammary tumors.Breast cancer research and treatment · 1984
Manually curated
Association Review

In brief

The association between CABP4 (Calcium Binding Protein 4) and Cone-Rod Synaptic Disorder, Congenital Nonprogressive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 114
Symptoms 28
Compounds 0
Trials 0
Publications 8
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

4 sources

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

Request access
03
CABP4

The gene

1 source summary

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

Request access
04
Cone-Rod Synaptic Disorder, Congenital Nonprogressive

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

114 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

8 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access