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).
33 results in Autoimmune
A rare autoimmune disease that attacks pigment-bearing cells in the eyes, inner ear, meninges and skin, causing severe recurrent eye inflammation that can threaten vision. A study of 774 cases found a variant in the promoter of IL23R that lowers the gene's activity — in a disease where the affected genes are expressed in the eye's own pigmented tissue.
Read more → AutoimmuneAutoimmune thyroid disease affects 2–5% of people, and the antibody that marks it is often present years before anything goes wrong. The genetics of having the antibody is not the same question as the genetics of getting ill.
Read more → AutoimmuneTwenty-two positions replicated, and every one of them was in the MHC. What makes it interesting is that they were not in strong linkage with each other — this is not one signal, it is several, stacked in one region.
Read more → AutoimmuneCrohn’s disease and ulcerative colitis are diagnosed separately, treated differently and inherited almost identically. Of the 163 positions found for inflammatory bowel disease, most contribute to both.
Read more → AutoimmuneFound twice, in two populations, with almost nothing in common between the answers. That is the finding — and it is a lesson about what "the genetics of a disease" means when the disease was only studied in one place.
Read more → AutoimmuneOne of the few conditions where the genetics led straight to the medicine. The pathways the 2009 scan implicated — IL-23 and NF-κB — are the pathways the drugs that changed psoriasis treatment now block.
Read more → AutoimmuneAn immune attack on the insulation around nerve fibres. One region — the MHC — carries by far the largest inherited effect, and everything else, including the variant here, is part of a long tail of small ones.
Read more → AutoimmuneAn autoimmune disease that attacks the lining of joints. The variant here sits in a small stretch of chromosome 6 that turned out to hold two independent signals 3.8 kb apart — a good picture of what it takes to say a region matters twice.
Read more → AutoimmuneA rare autoimmune disease that hardens skin and internal organs. Both variants here sit in the interferon and T-cell signalling machinery that also turns up in lupus and rheumatoid arthritis — the same immune wiring, a different disease.
Read more → AutoimmuneAn immune reaction to gluten that damages the small intestine. Nearly everyone who has it carries particular HLA types — and so do a third of people who do not, which is exactly why the genetics rules the disease out rather than in.
Read more → AutoimmuneAn autoimmune disease that can affect almost any organ, with strong genetic involvement and dozens of known loci that together still explain a small share of it. The variant here was found in Asian populations, which is less common than it should be in this field.
Read more → AutoimmuneAn autoimmune disease that destroys the cells making insulin. It shares a word with type 2 diabetes and almost nothing else — different age, different cause, different genetics, and a much stronger inherited component.
Read more → AutoimmuneA long-term inflammatory bowel disease in which the lining of the colon and rectum becomes inflamed and ulcerated, causing bloody diarrhoea, urgency and abdominal cramping that flare and remit over years.
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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.