Genopathy
Gene-Disorder Association · Article
Gene
CLCN5
Cl-/H+ Antiporter 5
Disorder
Hypophosphatemic Rickets
First reported 1998
Supporting publications 2
Key publication · gene–disorder Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.Journal of the American Society of Nephrology : JASN · 1998
Key publication · disorder [Liver cirrhosis with dwarfism in early infancy and hypophosphatemic rickets; contribution to the problem of so-called renal rickets].Annales paediatrici. International review of pediatrics · 1950
Manually curated
Association Review

In brief

The association between CLCN5 (Cl-/H+ Antiporter 5) and Hypophosphatemic Rickets is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
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

1 source

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

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03
CLCN5

The gene

1 source summary

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

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04
Hypophosphatemic Rickets

The disorder

5 database identifiers

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

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05
Literature

Reading

2 publications

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

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06
Provenance

References & sources

5 references

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

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