Start with a commonly tested gene
Each of these genes has its own page with every linked condition, what the inheritance pattern means and the open trials that name the gene.
- ATP7B · Wilson Disease
- C9orf72 · Amyotrophic Lateral Sclerosis
- CDKL5 · CDKL5 Deficiency Disorder
- CFTR · Cystic Fibrosis
- DMD · Duchenne Muscular Dystrophy
- FBN1 · Marfan Syndrome
- GAA · Pompe Disease
- GBA1 · Gaucher Disease
- GLA · Fabry Disease
- HBB · Sickle Cell Disease
- HTT · Huntington Disease
- JAK2 · Polycythemia Vera
- KIT · Mastocytosis
- MECP2 · Rett Syndrome
- NF1 · Neurofibromatosis Type 1
- PAH · Phenylketonuria
- PKD1 · Polycystic Kidney Disease
- RET · RET Fusion Cancer
- SCN1A · Dravet Syndrome
- SERPINA1 · Alpha-1 Antitrypsin Deficiency
- SMN1 · Spinal Muscular Atrophy
- SMPD1 · Niemann-Pick Disease
- TTR · ATTR Amyloidosis (Transthyretin Amyloidosis)
How the gene search works
The gene list and the conditions linked to each gene come from Orphanet, the European rare disease database run by INSERM in Paris. It covers 4,623 genes, and older symbols that reports still use, such as GBA for GBA1, are matched to their current names.
You can also type a condition by name or a common abbreviation, such as Gaucher disease, PKU or SMA. The search allows for small typos and plurals and shows the genes listed on that condition's Trial Friend page.
Trial Friend condition pages list the genes behind each condition, checked against genetics references when the page was written. 317 genes appear on 140 of our condition pages, and those matches come first along with the number of open trials for each condition.
Trials are read live from ClinicalTrials.gov. A trial is listed only when its title, summary, eligibility rules or keywords name the gene as a gene, next to words like gene, variant, mutation or deletion. A symbol that is also a condition's initials, such as PAH or DMD, needs the gene word right beside it. Each trial shows the words that matched so you can judge it yourself, and the trial's own listing is the final word on who can join.
None of this interprets a test result. A report can name a variant that is harmless or whose meaning is still unknown, and a genetic counselor or your doctor can explain yours. Our genetic testing guide covers the terms, and Match Me checks every open trial for a condition against your age, sex, location and treatment history.
Gene and disease data from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0. Trial data from ClinicalTrials.gov.