Genopathy
Gene-Disorder Association · Article
Gene
LOC109029536
Junctophilin 3 Repeat Instability Region
Disorder
Huntington Disease-Like 2
First reported 1965
Supporting publications 4
Key publication · disorder Studies on the conformation of human serum high-density lipoproteins HDL2 and HDL3.Proceedings of the National Academy of Sciences of the United States of America · 1965
Association Review

In brief

The association between LOC109029536 (Junctophilin 3 Repeat Instability Region) and Huntington Disease-Like 2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 33
Compounds 0
Trials 0
Publications 4
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
LOC109029536

The gene

1 source summary

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

Request access
04
Huntington Disease-Like 2

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

30 clinical features

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

Request access
06
Literature

Reading

4 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access