ClinGen (clinical gene and variant curation)

About this source

The NIH Clinical Genome Resource. Is a gene really linked to a disease (Definitive to Refuted), is it haploinsufficient or triplosensitive, and how have expert panels classified specific variants with ACMG criteria. CC0.

Questions you can ask ClinGen

Type them into Kahubi’s chat once the source is connected.

What the assistant can do with it

The 3 tools this server offers to Kahubi. The assistant picks the right one for each question.

• clingen_gene_validity

  Gene-disease validity classifications by gene symbol, or search by disease name.

• clingen_dosage

  Dosage sensitivity curation for a gene: haploinsufficiency and triplosensitivity scores with associated diseases, pLI, %HI, LOEUF, location, ACMG secondary-findings flag, OMIM l...

• clingen_variants

  Expert-panel variant classifications from the ClinGen Evidence Repository for a gene: HGVS, condition, classification (Pathogenic … Benign), ACMG criteria met, expert panel, dat...

Good to know

• Hosted by Kahubi. Kahubi runs this server itself so it stays reliable enough for research use.
• Cited, checkable answers. Results are treated as retrieved material and cited with the source’s own identifiers, so you can open every record the answer relied on.
• Your files stay private. Only the search the assistant writes for your question is sent to ClinGen.

More medical & clinical sources

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• ClinicalTrials.govSearch registered clinical trials, read full study records, posted results and eligibility criteria.
• Clinical evidence (trials, FDA labels, adverse events)ClinicalTrials.gov, openFDA drug labels, adverse-event reports and approvals alongside PubMed.
• CDC data and WONDERUS public-health datasets (data.cdc.gov) and CDC WONDER mortality and natality queries.
• NCATS Inxight DrugsEvery FDA-registered substance with its UNII, plus NCATS-curated approval status, indications, targets and pharmacokinetics.
• openFDAFDA drug and device adverse events, recalls, labels and shortages.