Genopathy
Gene-Disorder Association · Article
Gene
SLC34A3
Solute Carrier Family 34 Member 3
Disorder
Autosomal Recessive Hypophosphatemic Bone Disease
First reported 1985
Supporting publications 17
Key publication · gene–disorder Hereditary hypophosphatemic rickets with hypercalciuria.The New England journal of medicine · 1985
Manually curated
Association Review

In brief

The association between SLC34A3 (Solute Carrier Family 34 Member 3) and Autosomal Recessive Hypophosphatemic Bone Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 310
Symptoms 3
Compounds 0
Trials 0
Publications 17
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

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

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03
SLC34A3

The gene

1 source summary

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

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04
Autosomal Recessive Hypophosphatemic Bone Disease

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

310 clinical variants

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

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06
Literature

Reading

17 publications

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

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07
Provenance

References & sources

12 references

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

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