Genopathy
Gene-Disorder Association · Article
Gene
CLDN16
Claudin 16
Disorder
Primary Hypomagnesemia
First reported 1967
Supporting publications 14
Key publication · disorder Congenital primary hypomagnesemia, an inborn error of metabolism?Acta paediatrica Scandinavica · 1967
Manually curated
Association Review

In brief

The association between CLDN16 (Claudin 16) and Primary Hypomagnesemia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 153
Symptoms 5
Compounds 0
Trials 0
Publications 14
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

3 sources

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

Request access
03
CLDN16

The gene

1 source summary

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

Request access
04
Primary Hypomagnesemia

The disorder

9 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

153 clinical variants

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

Request access
06
Literature

Reading

14 publications

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

Request access
07
Provenance

References & sources

14 references

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

Request access