Genopathy
Gene-Disorder Association · Article
Gene
CLEC7A
C-Type Lectin Domain Containing 7A
Disorder
Aspergillosis
First reported 2010
Supporting publications 2
Key publication · gene–disorder Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity.Blood · 2010
Key publication · disorder A report of a case of localized bronchopulmonary aspergillosis successfully treated by surgery.The Journal of thoracic surgery · 1950
Manually curated
Association Review

In brief

The association between CLEC7A (C-Type Lectin Domain Containing 7A) and Aspergillosis is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and a susceptibility locus.

Sources 3
Clinical variants 3
Symptoms 62
Compounds 0
Trials 0
Publications 2
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

3 sources

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

Request access
03
CLEC7A

The gene

1 source summary

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

Request access
04
Aspergillosis

The disorder

18 database identifiers

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

Request access
05
Phenotype

Clinical features

56 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

3 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

10 references

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

Request access