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).
A disorder of bone remodelling running too fast and too disorganised in one or a few spots. This page holds one newly found locus and one the same research group had already identified in an earlier study — a gene osteoclasts need to develop at all.
Read more → MusculoskeletalA joint-specific genetics story: hip osteoarthritis does not share its loci with knee osteoarthritis, and the gene behind this page's lead signal is not just statistically associated but measurably less active in the cartilage the disease damages.
Read more → PharmacogenomicACE inhibitors are among the most prescribed drugs for blood pressure and heart failure, and their best-known side effect — a dry, persistent cough — is the usual reason someone gets switched to a different drug. This page holds three variants from the one study that has looked at who makes that switch.
Read more → DevelopmentalA congenital disorder in which part of the bowel never develops the nerve cells that let it relax. RET is the well-established gene, and this page holds a common variant in it alongside two more from a gene, NRG1, that a genome-wide scan found by accident.
Read more → CancerOne of the more genetic common cancers, and two studies from the same group both point the same way: the loci that raise risk also lower thyroid-stimulating hormone, and the strongest one sits on the gene that builds the thyroid gland in the embryo.
Read more → CancerTwo different cancers share the same tube. The squamous type is the cancer of East Asia and its genetics lead straight to the alcohol flush gene, and to a lifestyle a person can change; the adenocarcinoma type is the fastest rising cancer of high-income countries and grows out of years of reflux. This page holds variants for both and keeps them apart.
Read more → CancerOne of the lowest survival rates of any cancer, because it is usually found late. The first genome-wide scan of it returned the blood group gene, confirming an observation from decades of hospital records, and the later ones returned the genes that build the pancreas and make its digestive enzymes.
Read more → OphthalmicThe cornea thins and bulges into a cone, and vision distorts. It starts in children and young adults and is one of the commonest reasons for a corneal transplant. The first large genetic study of it found collagen — the protein the cornea is built from.
Read more → CancerA cancer of the cells that make antibodies, often found by accident on a blood test, and among the common cancers one of the most strongly familial. The genes that come out of the scans are immunity genes, which is the answer the biology would predict.
Read more → BehaviouralA study of how often people nap found its way to the exact receptors a licensed class of insomnia drugs already targets. It also found that napping more often looks like a cause of higher blood pressure rather than merely a companion of it — which, on this site, makes it the exception rather than the rule.
Read more → CardiovascularFibrinogen is one of the oldest predictors of heart disease there is, and a third to a half of the difference between people is inherited. Genetics has found more than forty places that move it — and no strong evidence that moving it changes cardiovascular risk at all.
Read more → MetabolicTwo numbers describe most of what a kidney is doing: how fast it filters, and how much albumin leaks into urine. Both are heritable. One of the genes here raises the albumin number without harming the kidney at all, and the albumin number and blood pressure turn out to drive each other in both directions.
Read more → NeurologicalAlzheimer genetics comes in three tiers that behave nothing alike: rare changes that nearly decide the outcome, one common variant that matters a great deal, and a long tail that each move risk a little. This catalogue holds the second and part of the third, and none of the first — and several of the famous genes are here under completely different headings.
Read more → HematologicThe numbers on a routine blood test are strongly heritable, and one of them turned into a medicine: BCL11A was found because it moved fetal haemoglobin, and silencing it now treats sickle cell disease. The same data also warns that several of these numbers mark disease risk without causing it.
Read more → CardiovascularNearly a hundred positions here move cholesterol, and each one moves it a little. The two things worth knowing are that very high LDL almost never has a single-gene cause — fewer than 2 in 100 do — and that genetics worked out the HDL hypothesis was wrong years before the drug trials confirmed it.
Read more → InheritedThe 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.
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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.