Genopathy
Gene-Disorder Association · Article
Gene
LOC129995978
ATAC-STARR-Seq Lymphoblastoid Silent Region 16989
Disorder
Succinic Semialdehyde Dehydrogenase Deficiency
First reported 2003
Supporting publications 12
Key publication · gene–disorder Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.Human mutation · 2003
Key publication · disorder Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduria, somnolence and seizures.The New England journal of medicine · 1966
Manually curated
Association Review

In brief

The association between LOC129995978 (ATAC-STARR-Seq Lymphoblastoid Silent Region 16989) and Succinic Semialdehyde Dehydrogenase Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 195
Symptoms 59
Compounds 0
Trials 0
Publications 12
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
LOC129995978

The gene

1 source summary

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

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04
Succinic Semialdehyde Dehydrogenase Deficiency

The disorder

10 database identifiers

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

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05
Phenotype

Clinical features

35 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

195 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

12 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

15 references

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

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