Genopathy
Gene-Disorder Association · Article
Gene
CLN5
CLN5 Lysosomal BMP Synthase
Disorder
Spinocerebellar Ataxia 28
First reported 2005
Key publication · disorder [Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6].Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2005
Manually curated
Association Review

In brief

The association between CLN5 (CLN5 Lysosomal BMP Synthase) and Spinocerebellar Ataxia 28 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 38
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
CLN5

The gene

1 source summary

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

Request access
04
Spinocerebellar Ataxia 28

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

27 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
Provenance

References & sources

7 references

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

Request access