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Developmental and Epileptic Encephalopathy, 44, as genome-wide studies have reported it: 15 positions from 1 study. Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Developmental and Epileptic Encephalopathy, 44 — filed in the GWAS Catalog as "Developmental and epileptic encephalopathy, 44" — is a condition this catalogue follows as its positions arrive. This page is assembled by MyGeneLog's own code from the catalogue's records and the studies' own listings: 15 positions from 1 study, and no sentence written by hand. It is rebuilt as new positions are reported, so what it says is what the records say today.
A study. From it, 15 positions on this page: rs1313071575 (UBA5), rs2107921941 (UBA5), rs2107943727 (UBA5), rs2530303960 (UBA5), rs2530304011 (UBA5), rs2530325660 (UBA5), rs374052333 (UBA5), rs745968949 (UBA5), and 7 more.
The 15 positions lie in or near 1 gene: UBA5. 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 Developmental and Epileptic Encephalopathy, 44 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.
Developmental and Epileptic Encephalopathy, 44 is diagnosed by a clinician — not from a genotype. None of the 15 variants on this page is used by any guideline to predict, screen for or diagnose it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
Databases, guidelines and references
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Developmental and Epileptic Encephalopathy, 44. MyGeneLog™. https://www.mygenelog.com/conditions/developmental-and-epileptic-encephalopathy-44
Developmental and Epileptic Encephalopathy, 44 is the condition the GWAS Catalog files under "Developmental and epileptic encephalopathy, 44". This page does not define it in its own words; it lists what genome-wide studies have reported: 15 positions from 1 study, with each study's sample and citation.
Genes play a part: 15 positions have been linked to it. But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The positions lie in or near 1 gene: UBA5. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Developmental and Epileptic Encephalopathy, 44 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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