Genopathy
Gene-Disorder Association · Article
Gene
SLC12A3
Solute Carrier Family 12 Member 3
Disorder
Hypomagnesemia 1, Intestinal
First reported 1962
Key publication · disorder [The "hypomagnesemic tetany" syndrome. Complete therapeutic results of 6-years electromyographic experience in 500 cases].Revue francaise d'etudes cliniques et biologiques · 1962
Manually curated
Association Review

In brief

The association between SLC12A3 (Solute Carrier Family 12 Member 3) and Hypomagnesemia 1, Intestinal is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 7
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
SLC12A3

The gene

1 source summary

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

Request access
04
Hypomagnesemia 1, Intestinal

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

5 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

6 references

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

Request access