Association Review
In brief
The association between THBD (Thrombomodulin) and Atypical Hemolytic-Uremic Syndrome is reported, with clinical genetic testing available.
Sources
1
Clinical variants
12
Symptoms
17
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.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
1 source summary
A gene summary alongside the source descriptions it was distilled from.
04
Atypical Hemolytic-Uremic Syndrome
The disorder
7 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Phenotype
Clinical features
13 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
06
ClinVar and variant evidence
Genetic basis
12 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
07
Mechanism overlap
Shared mechanisms
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
08
Provenance
References & sources
6 references
Every source and publication cited across this dossier, as one numbered reference list.
