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).
The severe form, hyperemesis gravidarum, affects 0.3-2% of pregnancies and its cause was unknown — until a 2018 genome-wide study pointed at two genes for placentation and appetite, GDF15 and IGFBP7.
Read more → ReproductiveUterine and cervical polyps had never had a genome-wide study until 2025 — the first one, in nearly 37,000 women, found 16 risk loci and a genetic overlap with endometrial cancer and fibroids.
Read more → MetabolicAbnormally low "good" cholesterol, studied across sex and life stage in over 50,000 Korean adults — the study’s real finding was that menopause, not age, is what turns up the genetic risk.
Read more → DigestiveSix risk variants for colon polyps, surfaced from a 220-phenotype genetic atlas built across Japanese, European, and Finnish populations — one small slice of a much bigger study.
Read more → DermatologicRaised scars that outgrow the original wound, mapped by a 2025 multi-ancestry study of nearly 1.6 million people — which found the genetic risk itself differs sharply by ancestry.
Read more → Behavioural206 variants shared across alcohol, cannabis, opioid, and tobacco use disorders — from the largest cross-substance genetic study to date, which found the same genes keep showing up no matter which substance is involved.
Read more → RespiratoryThe first genome-wide study of childhood sleep apnea, run separately by ancestry and by sex in nearly 1,500 children — with one risk locus that held up in both African American and European American children alike.
Read more → NeurologicalA leading cause of stroke and cognitive decline, mapped by a 2022 study of over 41,000 people that found 11 risk loci and traced one, TRIM47, all the way to a lab experiment on brain blood vessels.
Read more → HematologicA rare histiocytosis whose first-ever genome-wide study found one germline risk variant near SETBP1 — a gene otherwise known for its role in clonal blood-cell mutation.
Read more → NeurologicalThe second most common form of dementia, mapped by the largest genome-wide study of it to date — which confirmed GBA1 among four known risk genes and found one new one.
Read more → InfectionA small minority of people infected with HIV-1 keep the virus suppressed for years without treatment -- "controllers." A landmark 2010 study found the reason sits almost entirely in how well a person's immune system can show viral fragments to itself.
Read more → AutoimmuneA chronic inflammatory skin disease causing painful lumps, abscesses and tunnels in skin folds, often mistaken for severe acne or recurring boils -- a 2026 multiomics study found its genetics touch lipid handling, the skin barrier, and cellular waste disposal, not one single pathway.
Read more → EndocrineAn enlarged thyroid with one or more lumps, almost always non-cancerous -- and, per the largest thyroid genetics study yet, genetically correlated with the disease it is most often confused with the risk of: thyroid cancer.
Read more → AutoimmuneThe clinical name for what is commonly called Hashimoto's thyroiditis — the immune system attacking the thyroid, usually leading to an underactive gland. A 2026 meta-analysis of nearly 2.9 million genomes, covering five thyroid diseases at once, found hundreds of loci and real genetic overlap between this one and thyroid cancer.
Read more → AutoimmuneA fibro-inflammatory disease that can affect almost any organ, tied to a specific immune cell type and antibody. A Chinese study found 16 general susceptibility loci, mostly in immune-signalling regions; a separate Japanese study using whole-genome sequencing then found that one clinical subtype — Mikulicz's disease, which affects the salivary and lacrimal glands — has its own distinct genetics on top of the general ones.
Read more → MetabolicFat builds up in the liver without heavy alcohol use behind it. A Korean study deliberately excluded everyone with obesity, diabetes, high cholesterol or metabolic syndrome from its search — because those conditions are themselves heritable, and a normal study risks finding their genetics instead of the liver disease's own. One variant survived that stricter test.
Read more → CardiovascularWho develops heart failure, not what happens after — a study of 1.9 million people found 66 genetic loci, and that the genetics differ by cause: a blocked artery, a weakly pumping heart, and a stiffly filling one are genetically distinguishable, not one disease with three names.
Read more → CardiovascularA narrowing of the neck arteries that supply the brain, and a real stroke risk factor. The study behind this page confirmed a well-known lipoprotein(a) link and found a second, genuinely new locus that -- unlike the first -- does not also raise coronary heart disease risk.
Read more → PharmacogenomicA CPIC dosing guideline for two widely used chemotherapy drugs, 5-fluorouracil and capecitabine -- three DPYD alleles that reduce the enzyme that breaks the drug down, each with its own guideline-recommended dose cut.
Read more → PharmacogenomicA CPIC dosing guideline, not a research finding still waiting for use: TPMT and NUDT15 genotype already guide starting doses of azathioprine, mercaptopurine and thioguanine in hospitals that test for it, through two separate genetic pathways to the same risk.
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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.