Genopathy
Gene-Disorder Association · Article
Gene
RAB3A
RAB3A, Member RAS Oncogene Family
Disorder
Spinocerebellar Ataxia 52
First reported 2012
Key publication · disorder Identification of lactic acid bacteria in traditional fermented yak milk and evaluation of their application in fermented milk products.Journal of dairy science · 2012
Manually curated
Association Review

In brief

The association between RAB3A (RAB3A, Member RAS Oncogene Family) and Spinocerebellar Ataxia 52 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 25
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
RAB3A

The gene

1 source summary

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

Request access
04
Spinocerebellar Ataxia 52

The disorder

2 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
Provenance

References & sources

2 references

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

Request access