Genopathy
Gene-Disorder Association · Article
Gene
TCIRG1
T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3
Disorder
Osteopetrosis
First reported 2000
Supporting publications 30
Key publication · gene–disorder Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.Nature genetics · 2000
Key publication · disorder Hereditary osteopetrosis of the rabbit. III. Pathologic observations; skeletal abnormalities.The Journal of experimental medicine · 1950
Manually curated
Association Review

In brief

The association between TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3) and Osteopetrosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 17
Symptoms 0
Compounds 0
Trials 0
Publications 30
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

2 sources

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

Request access
03
TCIRG1

The gene

1 source summary

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

Request access
04
Osteopetrosis

The disorder

8 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

17 clinical variants

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

Request access
06
Literature

Reading

30 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access