About ClinGen (clinical gene and variant curation)
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 ClinGen is connected.
“Is MYH7 definitively linked to hypertrophic cardiomyopathy according to ClinGen?”
What comes back: Gene-disease validity curations with classification, mode of inheritance, expert panel and report link.
“Which BRCA1 variants has an expert panel classified as pathogenic, and on which ACMG criteria?”
What comes back: Variant classifications with HGVS, condition, criteria met, panel and date.
ClinGen MCP tools
The 3 tools the ClinGen server offers to Kahubi. The assistant picks the right one for each question.
clingen_gene_validityGene-disease validity classifications by gene symbol, or search by disease name.
clingen_dosageDosage sensitivity curation for a gene: haploinsufficiency and triplosensitivity scores with associated diseases, pLI, %HI, LOEUF, location, ACMG secondary-findings flag, OMIM l...
clingen_variantsExpert-panel variant classifications from the ClinGen Evidence Repository for a gene: HGVS, condition, classification (Pathogenic … Benign), ACMG criteria met, expert panel, dat...
Using ClinGen in Kahubi
- 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
- PubMed & Europe PMCBiomedical literature: search, MeSH terms, related articles, citations and lawful full text.
- 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.