Genopathy
Gene-Disorder Association · Article
Gene
THAP11
THAP Domain Containing 11
Disorder
Methylmalonic Aciduria And Homocystinuria, Cblx Type
First reported 1990
Key publication · disorder Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.American journal of human genetics · 1990
Association Review

In brief

The association between THAP11 (THAP Domain Containing 11) and Methylmalonic Aciduria And Homocystinuria, Cblx Type is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 25
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
THAP11

The gene

1 source summary

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

Request access
04
Methylmalonic Aciduria And Homocystinuria, Cblx Type

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

18 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

Request access
07
Provenance

References & sources

5 references

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

Request access