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.

13 database identifiers

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

30 clinical features

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

1,250 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.

2 shared pathways

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

18 publications

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