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

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.

11 database identifiers

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

16 clinical features

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

2 GWAS phenotypes

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.

10 publications

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