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).
One of the most common inflammatory diseases in the world, with an estimated heritability around 50%. Two studies behind this page found different genetic signals -- one from a large European meta-analysis, one specific to a localized form of the disease in an isolated Italian population.
Read more → CardiovascularA common condition with no approved drug treatment, and a study of nearly half a million people that found a genuinely surprising, causal risk factor: being taller.
Read more → UrinaryA common, painful condition with a real genetic component. A whole-genome study of Iceland's own population found a risk variant in a gene that normally helps keep calcium crystals from forming in urine in the first place.
Read more → AutoimmuneAn autoimmune disease causing fluctuating muscle weakness, and one where genetics turned out to split cleanly by age of onset: the risk locus found in early-onset cases showed no association at all in a later study restricted to people diagnosed after 50.
Read more → CardiovascularThe most common heart valve disease in older adults -- a narrowing of the aortic valve, usually from calcium buildup over decades. The largest genetic study of it to date found 241 risk loci on the autosomes and 3 more on the X chromosome, in a dataset of nearly 87,000 cases among 2.85 million people.
Read more → CardiovascularThe most common congenital heart defect, present in roughly 1 in 100 to 1 in 200 people. A large genome-wide study's real headline is a biological pathway — cilia and a cell-trafficking complex — validated in animal models, with the variant on this page a separate locus from the same study.
Read more → AutoimmuneA rare autoimmune blistering disease of skin and mucous membranes, whose strongest known genetic signal by far sits inside the immune system's own HLA region — the variant this page carries is a real but much smaller contributor from the same study.
Read more → DentalTeeth that never form, not teeth that come in late — a different question from this site's tooth-eruption-timing page. A study of nearly 2,000 people with congenitally missing teeth found nine risk variants, several of them specific to which particular teeth go missing.
Read more → MusculoskeletalThe most common spinal deformity in adolescence, and a genetics that splits into two separate questions: who develops it at all, and — a different locus, from a different study — who develops the severe form that needs treatment.
Read more → CancerThe deadliest common skin cancer, and the one most tied to sun exposure acting on a genetically susceptible person. A meta-analysis of almost 16,000 melanoma cases confirmed 13 known risk loci and found five new ones, in genes tied to how melanocytes are regulated.
Read more → DigestiveA disease of the first weeks of life, in which the bile ducts outside the liver progressively scar shut. A genome-wide study of 200 Chinese infants with the condition found one locus near a gene involved in inflammation — evidence for a genetic contribution to a disease usually described only by what triggers it, which remains unknown.
Read more → CardiovascularNot who develops heart failure — this is about people who already have it, and what separates a stable course from one that ends sooner in death or a hospital admission for it. A study of over 50,000 people with established heart failure found that higher body mass index causally worsens that course, and built its own genetic map of the outcome to prove it.
Read more → AutoimmuneThis page's own gene, PRTN3, does not just sit near the disease statistically — it encodes the exact protein the disease's own antibodies attack, and the risk variant raises how much of that protein neutrophils make.
Read more → DermatologicalThree studies across two ancestries converge on the same story: severe acne's genetics run through TGF-beta signaling and the structural biology of the hair follicle, not through inflammation alone.
Read more → InfectiousOne of the best-known examples in human genetics of a disease shaping the genome directly — and a 2013 study found even its most famous protective variant works differently in different African populations.
Read more → CancerThree separate large studies, each adding loci to a genetic picture that converges on one specific mechanism: dysfunction in the germinal center where B cells normally mature, plus disrupted T-cell development.
Read more → MusculoskeletalA genetic study of shoulder injury did something rare on this site: it biopsied actual torn tendons and confirmed two of its own genes changed activity right at the site of the tear.
Read more → ReproductiveA chronic disease affecting roughly 1 in 10 women, whose genetics were mapped in one of the largest studies of its kind — 80 risk regions, and a first look at which existing drugs might be repurposed against it.
Read more → UrologicalA common non-cancerous prostate condition whose genetics barely overlap with prostate cancer's — but that shares enough genetic ground with PSA levels to matter for reading a cancer-screening test correctly.
Read more → DigestiveAn allergic disease of the esophagus whose top genetic locus, CAPN14, was shown in the lab to be switched on by the same allergic signal (IL-13) thought to drive the disease itself.
Read more →Showing 20 of 385 · page 7 of 20
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.