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).
18 results in Musculoskeletal
Intervertebral Disc Disorder, as genome-wide studies have reported it: 5 positions from 1 study, the largest recording 58,854 cases and 922,958 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → MusculoskeletalAnkylosis of Joint, as genome-wide studies have reported it: 12 positions from 1 study, the largest recording 829 cases and 570,923 controls (African American or Afro-Caribbean ancestry, European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → MusculoskeletalExostosis of Jaw, as genome-wide studies have reported it: 25 positions from 1 study, the largest recording 665 cases and 569,882 controls (African American or Afro-Caribbean ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → MusculoskeletalFibromyalgia, as genome-wide studies have reported it: 6 positions from 2 studies, the largest recording 2,563,755 individuals (European ancestry, African ancestry, South Asian ancestry, Hispanic or Latin American ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → MusculoskeletalSpinal Stenosis, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 61,730 cases and 545,165 controls (African American or Afro-Caribbean ancestry, Hispanic or Latin American ancestry, East Asian ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → MusculoskeletalCarpal Tunnel Syndrome, as genome-wide studies have reported it: 18 positions from 3 studies, the largest recording 48,843 cases and 1,190,837 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → MusculoskeletalLumbar Disc Herniation, as genome-wide studies have reported it: 15 positions from 1 study, the largest recording 80,724 cases and 748,975 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → MusculoskeletalRepairing a groin hernia is one of the most common operations in the world, and men are far more likely to need it than women. Three studies have mapped the inherited part, the largest finding 63 loci — some of them specific to one sex. 14 positions are on this page.
Read more → MusculoskeletalThe largest genetic study of osteoarthritis, in 1,962,069 people, found 962 associations and named 700 genes likely to act in the joint. 62 of the positions it reports are in this catalogue — and 51 of them were already here for something else, from height to body weight.
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 → 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 → MusculoskeletalPlantar fasciitis is the common cause of stabbing heel pain worst with the first steps of the day — a 2018 study of over 100,000 people's genotypes found one variant near WWP2 that modestly raises the odds of it.
Read more → MusculoskeletalPain and reduced function in the jaw joint and chewing muscles, affecting about 5% of people in the US and twice as many women as men. Both variants here turned up only when the study looked at women separately — and one of the two, genome-wide significant in discovery, failed to replicate.
Read more → MusculoskeletalA thickening of the connective tissue under the skin of the palm that gradually bends the fingers. A genome-wide study of it found nine risk loci, and six of them independently point at the same signalling pathway — the kind of convergence that makes a genetic finding a mechanism rather than a list.
Read more → MusculoskeletalA 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 → MusculoskeletalThe study behind this page did something unusual and useful: it looked for genes for the fracture rather than genes for the bone density. It found one, at an odds ratio of 2.25.
Read more → MusculoskeletalFor a century this was "wear and tear" — a joint used until it wore out. Then a scan of 4,800 people found its strongest signal in the immune genes, which is not where wear and tear lives.
Read more →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.