STRA6 and Microphthalmia: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

STRA6

Signaling Receptor And Transporter Of Retinol STRA6

Disorder

First reported 2016

Supporting publications 1

Key publication · gene–disorder Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.Genome research · 2016

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 STRA6 (Signaling Receptor And Transporter Of Retinol STRA6) 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 4

Symptoms 0

Compounds 0

Trials 0

Publications 1

01

At a glance

Association overview

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

02

Provenance

Evidence and sources

2 sources

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

03

STRA6

The gene

1 source summary

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

04

Microphthalmia

The disorder

7 database identifiers

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

05

ClinVar and variant evidence

Genetic basis

4 clinical variants

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

06

Mechanism overlap

Shared mechanisms

1 shared pathway

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

07

Literature

Reading

1 publication

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

08

Provenance

References & sources

6 references

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