Genopathy
Gene-Disorder Association · Article
Gene
CA2
Carbonic Anhydrase 2
Disorder
Renal Tubular Acidosis
First reported 1990
Supporting publications 12
Key publication · gene–disorder Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients.Proceedings of the National Academy of Sciences of the United States of America · 1990
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 CA2 (Carbonic Anhydrase 2) and Renal Tubular Acidosis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 12
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
CA2

The gene

2 source summaries

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

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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).

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05
Literature

Reading

12 publications

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

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06
Provenance

References & sources

11 references

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

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