Each page covers one condition properly: what it actually is and what it feels like, what causes it, how common it really is and in whom, and how it's diagnosed — followed by the specific variants with a replicated link to it, and, where the research supports it, how genetics can change the way a medicine behaves.
Written in two registers so one page serves both readers: plain language first, then a clinical detail section with the precise terminology, effect sizes and diagnostic thresholds. Every claim is sourced from freely-available published research and cited on the page, so you can check us — or hand the page to your doctor. 385 conditions so far, growing continuously, and free to reuse with attribution (CC BY 4.0).
6 results in Inherited
The genetics here is real, weak and spread across hundreds of positions. The pharmacogenomics is the useful part, and it answers a narrower question than the tests sold on it claim: how much of a drug you are exposed to, never which antidepressant will work for you.
Read more → InheritedThe commonest kidney cancer of childhood, and one of the great successes of modern oncology: more than 90% of children treated for it survive. The genetics that changes care is not on this page, and the page says which test finds it.
Read more → InheritedThe third leading cause of death in the world, and the one genetic finding that would change a doctor’s mind about it is a rare change this catalogue cannot see. What it can see are common variants, two of which act on the lungs by acting on how much somebody smokes.
Read more → InheritedOne gene, SCN1A, appears twice in this page and means something different each time: a common variant that shifts risk a little, and a rare change that causes severe epilepsy in a child. Telling those two apart is most of what genetics can offer here.
Read more → InheritedAlmost everybody with narcolepsy type 1 carries one particular HLA type. So do perhaps one in six people who will never develop it. It is the strongest association of its kind in medicine and it is nearly useless as a test — which is the most important thing on this page.
Read more → InheritedOne gene, more than two thousand described variants, and a treatment that is chosen by which variant somebody carries rather than by the diagnosis they have. It is the clearest case anywhere of why the variant is the unit that matters.
Read more →One diagnosed condition or measurable trait covered properly: what it actually is, what causes it, how common it is, how it is diagnosed, and the specific variants with a replicated link to it — every claim sourced from published research.
No. Every page here is informational, not a diagnosis. A result should be discussed with a doctor or a licensed genetic counselor, never acted on alone.
Because they are not disorders. Height, ABO blood group and a handful of others describe a measurable characteristic with nothing to diagnose — "Trait" says so plainly instead of implying a disease that is not one.
Only after a replicated association in published research, verified against the primary study rather than a gene name or a marketing claim — the same discipline the variant pages themselves follow.