Genopathy
Gene-Disorder Association · Article
Gene
RBP4
Retinol Binding Protein 4
Disorder
Microphthalmia
First reported 2015
Supporting publications 2
Key publication · gene–disorder Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.Cell · 2015
Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950
Manually curated
Association Review

In brief

The association between RBP4 (Retinol Binding Protein 4) and Microphthalmia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 3
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
RBP4

The gene

1 source summary

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

Request access
04
Microphthalmia

The disorder

7 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

3 clinical variants

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

Request access
06
Mechanism overlap

Shared mechanisms

1 shared pathway

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

Request access
07
Literature

Reading

2 publications

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

Request access
08
Provenance

References & sources

7 references

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

Request access