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

3 sources

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.

8 database identifiers

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

3 clinical features

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

1,210 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.

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