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Charcot-Marie-Tooth Disease Type 2, as genome-wide studies have reported it: 217 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Charcot-Marie-Tooth Disease Type 2 (the GWAS Catalog's "Charcot-Marie-Tooth disease type 2"): 217 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
A study. It contributes 217 positions: rs1011200048 (BSCL2), rs1060501918 (MFN2), rs1060501920 (MFN2), rs1060501925 (MFN2), rs1060502211 (LMNA), rs1060502214 (LMNA), rs1060502215 (LMNA), rs1060502838 (GARS1), and 209 more.
The 217 positions lie in or near 9 genes: BSCL2, MFN2, LMNA, GARS1, AARS1, MME, SLC5A7, KIF5A, MED25. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Association records say which positions differ, on average, between people with Charcot-Marie-Tooth Disease Type 2 and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Charcot-Marie-Tooth Disease Type 2. The 217 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
Databases, guidelines and references
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Charcot-Marie-Tooth Disease Type 2. MyGeneLog™. https://www.mygenelog.com/conditions/charcot-marie-tooth-disease-type-2
Charcot-Marie-Tooth Disease Type 2 is the condition the GWAS Catalog files under "Charcot-Marie-Tooth disease type 2". This page does not define it in its own words; it lists what genome-wide studies have reported: 217 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 217 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 9 genes: BSCL2, MFN2, LMNA, GARS1, AARS1, MME, SLC5A7, KIF5A, MED25. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Charcot-Marie-Tooth Disease Type 2 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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