SLC4A4 and Renal Tubular Acidosis: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

SLC4A4

Solute Carrier Family 4 Member 4

Disorder

Renal Tubular Acidosis

First reported 2005

Supporting publications 1

Key publication · gene–disorder Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.American journal of physiology. Renal physiology · 2005

Key publication · disorder Idiopathic hyperchloraemic renal acidosis of infants (nephrocalcinosis infantum); observations on the site and nature of the lesion.The Quarterly journal of medicine · 1950

Manually curated

Association Review

In brief

The association between SLC4A4 (Solute Carrier Family 4 Member 4) and Renal Tubular Acidosis is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 1

01

At a glance

Association overview

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

02

Provenance

Evidence and sources

1 source

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

03

SLC4A4

The gene

1 source summary

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

04

Renal Tubular Acidosis

The disorder

6 database identifiers

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

05

Literature

Reading

1 publication

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

06

Provenance

References & sources

3 references

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