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Cranioectodermal Dysplasia 1, as genome-wide studies have reported it: 27 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 Cranioectodermal Dysplasia 1 (the GWAS Catalog's "Cranioectodermal dysplasia 1"): 27 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 27 positions: rs1039467525 (IFT122), rs1185183557 (IFT122), rs1300189424 (IFT122), rs1377926916 (IFT122), rs138329739 (IFT122), rs1559869525 (IFT122), rs2074912574 (IFT122), rs2077955754 (IFT122), and 19 more.
The 27 positions lie in or near 1 gene: IFT122. 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.
It is a record of what genome-wide studies have reported about Cranioectodermal Dysplasia 1, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
Cranioectodermal Dysplasia 1 is diagnosed by a clinician — not from a genotype. None of the 27 variants on this page is used by any guideline to predict, screen for or diagnose it.
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
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Cranioectodermal Dysplasia 1. MyGeneLog™. https://www.mygenelog.com/conditions/cranioectodermal-dysplasia-1
Cranioectodermal Dysplasia 1 is the condition the GWAS Catalog files under "Cranioectodermal dysplasia 1". This page does not define it in its own words; it lists what genome-wide studies have reported: 27 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 27 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 1 gene: IFT122. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Cranioectodermal Dysplasia 1 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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