Genopathy
Gene-Disorder Association · Article
Gene
EXT1
Exostosin Glycosyltransferase 1
Disorder
Bone Disease
First reported 1997
Supporting publications 7
Key publication · gene–disorder Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.American journal of human genetics · 1997
Key publication · disorder Multiple myeloma. II. Variability of roentgen appearance and effect of urethane therapy on skeletal disease.The American journal of roentgenology and radium therapy · 1950
Manually curated
Association Review

In brief

The association between EXT1 (Exostosin Glycosyltransferase 1) and Bone Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
Compounds 0
Trials 0
Publications 7
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
EXT1

The gene

1 source summary

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

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04
Bone Disease

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
Literature

Reading

7 publications

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

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06
Provenance

References & sources

10 references

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

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