LRRK1-AS1 and Osteosclerotic Metaphyseal Dysplasia: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

LRRK1-AS1

LRRK1 Antisense RNA 1

Disorder

Osteosclerotic Metaphyseal Dysplasia

First reported 1993

Supporting publications 3

Key publication · disorder Osteosclerotic metaphyseal dysplasia.Pediatric radiology · 1993

Association Review

In brief

The association between LRRK1-AS1 (LRRK1 Antisense RNA 1) and Osteosclerotic Metaphyseal Dysplasia is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1

Clinical variants 7

Symptoms 35

Compounds 0

Trials 0

Publications 3

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

1 source

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

03

LRRK1-AS1

The gene

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

04

Osteosclerotic Metaphyseal Dysplasia

The disorder

8 database identifiers

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

05

Phenotype

Clinical features

12 clinical features

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

06

ClinVar and variant evidence

Genetic basis

7 clinical variants

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

07

Literature

Reading

3 publications

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

08

Provenance

References & sources

7 references

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