Genopathy
Gene-Disorder Association · Article
Gene
LOC108663984
ALAS2 Intron 1 And 3 Erythroid Regulatory Elements
Disorder
X-Linked Protoporphyria
First reported 1988
Key publication · disorder Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding.Gastroenterology · 1988
Association Review

In brief

The association between LOC108663984 (ALAS2 Intron 1 And 3 Erythroid Regulatory Elements) and X-Linked Protoporphyria is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 3
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
LOC108663984

The gene

1 source summary

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

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04
X-Linked Protoporphyria

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

3 clinical variants

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

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06
Provenance

References & sources

2 references

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

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