Genetic disease tools, from phenotype to gene.
Most rare diseases are genetic. Working one up means describing the patient precisely, judging whether a gene is really linked to a disease, and coding the result. GENA Labs has a free tool for each step, and GENA 3.0 brings them together for a real case.
Three questions, three free tools
What does the patient have? → PhenoLens
A genetic analysis is only as good as the phenotype it starts from. PhenoLens turns a clinical note into Human Phenotype Ontology (HPO) codes, marks findings present or absent, and exports them as IDs, a list or a GA4GH Phenopacket.
Is this gene really linked to that disease? → Gene Standing
A gene–disease link in a report is not always settled. Gene Standing shows which expert groups in GenCC graded the link, what each concluded, and whether they disagree.
How is the diagnosis coded? → ICD-10 Map
Most rare genetic diseases have no ICD-10 code of their own. ICD-10 Map shows the code a disease is filed under, how many other diseases share it, and whether a more specific code exists.
Why gene–disease evidence deserves a second look
Expert groups such as ClinGen grade how strongly the evidence supports each gene–disease link, and they do not always agree. Across the 14,040 links in GenCC:
A disputed link means one group calls it Definitive or Strong while another calls it Limited, Disputed or Refuted: a disagreement about whether the gene causes the disease at all. Gene Standing makes that visible before it is relied on.
From the tools to a diagnosis
The free tools answer one question each. GENA 3.0 works on the whole case: it takes the patient's coded findings and returns a ranked differential diagnosis across 30,408 diseases, with a rationale, cited disease summaries and the next workup that would best narrow the list.
Common questions
What is a genetic disease?
A genetic disease is caused by a change in a gene or chromosome. Most of the thousands of known rare diseases are genetic.
What is the Human Phenotype Ontology (HPO)?
The HPO is a standard vocabulary of more than ten thousand clinical findings, used by genetic testing labs and diagnostic software to describe a patient precisely. Each finding has an ID, such as HP:0002829 for arthralgia (joint pain).
What is a Phenopacket?
A Phenopacket is a GA4GH standard file format for sharing a patient's phenotype, such as their HPO codes, with labs and analysis tools. PhenoLens can export one.
What is gene–disease validity?
Gene–disease validity is how strongly the evidence supports the claim that variants in a gene cause a particular disease. Groups such as ClinGen grade it on a scale from Definitive to Refuted, and GenCC collects those grades.
Are these tools free?
Yes. PhenoLens, Gene Standing and ICD-10 Map are free and run in your browser with no account. GENA 3.0, for full case analysis, is available through the Open GENA 3.0 button.
Have a genetic case? Take it to 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- 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)