Genopathy
Gene-Disorder Association · Article
Gene
SLC34A2
Solute Carrier Family 34 Member 2
Disorder
Pulmonary Alveolar Microlithiasis
First reported 2001
Supporting publications 4
Key publication · gene–disorder Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey.Respiration; international review of thoracic diseases · 2001
Key publication · disorder [Diffuse alveolar microlithiasis].Bulletins et memoires de la Societe medicale des hopitaux de Paris · 1950
Manually curated
Association Review

In brief

The association between SLC34A2 (Solute Carrier Family 34 Member 2) and Pulmonary Alveolar Microlithiasis is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 22
Symptoms 52
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

5 sources

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

Request access
03
SLC34A2

The gene

1 source summary

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

Request access
04
Pulmonary Alveolar Microlithiasis

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

45 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

22 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access