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 pregnancy-specific liver condition whose leading variant sits in the same gene that, when severely mutated, causes an inherited liver disease of its own — a mechanistic thread the source study traces directly.
Read more → CancerA pediatric bone cancer defined by an acquired gene fusion — and one of this page's three inherited risk variants sits directly beside a gene that same fusion protein switches on.
Read more → InfectiousTwo of this page's three findings go further than a statistical association — one traced to impaired immune-cell movement, the other confirmed by breeding mice that lack the gene and watching them get sicker.
Read more → EndocrineExcessive hair growth in women is usually attributed to one cause — but a genome-wide study designed specifically to look beyond it found a rare, unusually strong-effect variant that most studies its size would have missed.
Read more → BehaviouralGenetic risk for insomnia runs, in the same population, alongside genetic risk for major depressive disorder and type 2 diabetes — evidence that sleeplessness shares real biology with conditions far outside sleep itself.
Read more → NeurologicalThe most common movement disorder, highly heritable in twin studies — and, unusually for a GWAS finding on this site, one of its risk genes comes with a direct experimental link to lower activity actually lowering risk.
Read more → CancerThe most common and clinically aggressive lymphoma subtype, whose inherited risk loci point at immune recognition pathways — including two independent signals at the same 8q24.21 region as the MYC oncogene, famous for a completely different, acquired role in this disease.
Read more → NeurologicalA seizure triggered by fever in a young child — and, for two of this page's five variants, one specific to seizures after the MMR vaccine, at a gene that is literally the measles virus's own entry point into human cells.
Read more → CancerA blood cancer whose strongest inherited risk sits in the immune system's own HLA region — and whose most characteristic acquired feature, a translocation at BCL2, shares a gene with one of this page's five inherited variants.
Read more → InfectiousA reactivation, decades later, of the same virus that caused chickenpox in childhood — and the strongest genetic signal for who gets it sits, unsurprisingly, in the immune system's own HLA region.
Read more → CancerBlood cancers driven by an acquired mutation in blood stem cells, most often in JAK2 — the same gene where several of this page's eight inherited variants also sit, but as a completely different, inherited kind of change.
Read more → EndocrineAn underactive thyroid, whose genetic risk spans two different kinds of biology at once — autoimmune loci shared with many other immune diseases, and genes directly involved in making and regulating thyroid hormone.
Read more → AutoimmuneA rare inflammatory disease of the aorta and its major branches, with its strongest genetic risk in the same immune region — HLA — that shapes risk for many other autoimmune diseases, and a genome-wide relatedness closest to inflammatory bowel disease.
Read more → TraitTwo different laboratory measurements of biological aging rate — not how long someone lives, which /conditions/human-lifespan covers separately. The gene that ties them together, TERT, makes telomerase itself, and shows up as the single strongest hit in the epigenetic-clock study.
Read more → NeurologicalTwo loci from a 635,969-person veteran health atlas study, not a dedicated ME/CFS study — and a real gap worth stating plainly: the dedicated studies making news this year, DecodeME and a 46,450-case meta-analysis, are not yet in the public GWAS Catalog this site draws from, so their findings are not here yet either.
Read more → ConditionA 2019 UK Biobank study used prescription records themselves, not diagnosis codes, as the trait to study -- and found that genetics behind who takes diabetes or peptic-ulcer drugs mostly recovers the genes already known to cause the underlying diseases.
Read more → ConditionA reproductive condition and a mood disorder that look unrelated, but a 2020 study built specifically to test the overlap found a real, significant shared genetic architecture between them -- plus an unexpected link to stomach lining abnormality.
Read more → ConditionSmall pockets that form in the colon wall, common with age — a 2018 UK Biobank study of over 409,000 people found 39 new risk loci in total, 17 of them in this site's own catalogue, several pointing toward connective-tissue genes.
Read more → CardiovascularA group of heart-rhythm disorders caused by the heart's own natural pacemaker malfunctioning — a 2021 GWAS found 4 genome-wide significant risk loci, one of them PITX2, this site's most-recurring atrial fibrillation gene.
Read more → ImmunologicA kidney disorder causing heavy protein loss in urine, usually responsive to steroid treatment in children — a 2018 transethnic GWAS across European, African and Maghrebian ancestries found a strong HLA-DRB1 risk association.
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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.