Genopathy
Gene-Disorder Association · Article
Gene
SLC4A4
Solute Carrier Family 4 Member 4
Disorder
Intraocular Pressure Quantitative Trait Locus
First reported 2001
Supporting publications 4
Key publication · gene–disorder Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.Journal of the American Society of Nephrology : JASN · 2001
Key publication · disorder [Pathogenesis of traumatic glaucoma].Annali di ottalmologia e clinica oculistica · 1950
Manually curated
Association Review

In brief

The association between SLC4A4 (Solute Carrier Family 4 Member 4) and Intraocular Pressure Quantitative Trait Locus is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 4
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
SLC4A4

The gene

1 source summary

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

Request access
04
Intraocular Pressure Quantitative Trait Locus

The disorder

12 database identifiers

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

Request access
05
Literature

Reading

4 publications

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

Request access
06
Provenance

References & sources

6 references

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

Request access