Genopathy
Gene-Disorder Association · Article
Gene
THBD
Thrombomodulin
Disorder
Thrombocytopenia
First reported 1999
Key publication · gene–disorder Vascular damage correlates between heparin-induced thrombocytopenia and the antiphospholipid syndrome.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis · 1999
Key publication · disorder Thrombopathic thrombocytopenia; successful transfusion of blood platelets.Blood · 1950
Manually curated
Association Review

In brief

The association between THBD (Thrombomodulin) and Thrombocytopenia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 5
Symptoms 0
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

2 sources

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

Request access
03
THBD

The gene

1 source summary

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

Request access
04
Thrombocytopenia

The disorder

7 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

5 clinical variants

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

Request access
06
Provenance

References & sources

3 references

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

Request access