Genopathy
Gene-Disorder Association · Article
Gene
SETD1A
SET Domain Containing 1A, Histone Lysine Methyltransferase
Disorder
Developmental And Epileptic Encephalopathy
First reported 1985
Key publication · disorder Benign familial neonatal convulsions.Iowa medicine : journal of the Iowa Medical Society · 1985
Manually curated
Association Review

In brief

The association between SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase) and Developmental And Epileptic Encephalopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SETD1A

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Developmental And Epileptic Encephalopathy

The disorder

2 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Provenance

References & sources

2 references

Every source and publication cited across this dossier, as one numbered reference list.

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