GENA Labs
FREE TOOL · GENE STANDING

Not every gene–disease link is equally real.

Expert groups grade the evidence behind each gene–disease link, and they do not always agree. Gene Standing shows who assessed a link, what they concluded, and whether anybody has looked at all.

THE FINDING

Expert groups often disagree

Across 14,040 gene–disease links in GenCC: 6,109 genes, 8,139 diseases, 19 submitting groups.

14.5%of genes carry at least one disputed link
15.7%of links reviewed by two or more groups are disputed
57%of links graded by one group or none
2,861links asserted but never graded

Six verdicts, not two

Most sources show every gene–disease link the same way: as a link that exists. Gene Standing separates them:

  • Agreed: two or more groups graded it, and all agree it is established.
  • Agreed, the evidence falls short: they agree the link is not established.
  • Graded differently: different tiers, but nobody contradicts anybody.
  • The groups disagree: Definitive or Strong from one group against Limited or worse from another.
  • One group has assessed this: a single grader, unexamined rather than agreed.
  • Asserted, never graded: a claim that a link exists, with no grade of the evidence.

Search by gene or disease

Look up a gene symbol or a disease name. Older gene symbols resolve to the current one (AARS answers as AARS1), because an older symbol is what an older report prints.

Source

Built entirely from the public GenCC submissions export, which collects grades from groups including ClinGen, PanelApp Australia and clinical testing labs.

The verdicts are this tool's reading of the GenCC grades, not the groups' own statements. It is a research tool, not medical advice.

FAQ

Common questions

What is GenCC?

The Gene Curation Coalition (GenCC) brings together gene–disease validity grades from expert groups and testing labs, including ClinGen, in one public database.

What does a disputed gene–disease link mean?

One group grades the link Definitive or Strong while another grades it Limited, Disputed or Refuted. It is a disagreement about whether the gene causes the disease at all, not a difference of degree.

Why does it matter if only one group graded a link?

A link graded by a single group has not been independently examined. Gene Standing marks it as unexamined rather than presenting it as consensus.

Is Gene Standing a gene lookup like OMIM?

No. Free gene–disease lookups already exist, such as OMIM, Orphanet and PanelApp. Gene Standing's purpose is the verdict on how well established each link is.

Is Gene Standing free?

Yes. It is free, runs in your browser and needs no account.

GENA 3.0

From genes to a differential: GENA 3.0.

GENA 3.0 turns a patient’s findings into a ranked differential diagnosis across 30,408 diseases, each backed by a plain-language rationale and cited evidence.

Open GENA 3.0
FOR CLINICIANS
  • Ranked differential across 30,408 diseases
  • Evidence graph linking findings to diseases
  • Disease summaries with citations
  • AI consultant for the case
  • Suggested next workup
  • EHR-ready (SMART on FHIR)
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