A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

4 sources

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

2 source summaries

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

23 database identifiers

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

6 clinical features

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

89 clinical variants

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

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

1 shared pathway

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

4 compounds & drugs

Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.

5,644 clinical trials

Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.

232 publications

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