Genopathy
Gene-Disorder Association · Article
Gene
COL1A1
Collagen Type I Alpha 1 Chain
Disorder
High Bone Mass Osteogenesis Imperfecta
First reported 2011
Supporting publications 1
Key publication · disorder COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.Human mutation · 2011
Manually curated
Association Review

In brief

The association between COL1A1 (Collagen Type I Alpha 1 Chain) and High Bone Mass Osteogenesis Imperfecta is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
COL1A1

The gene

1 source summary

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

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04
High Bone Mass Osteogenesis Imperfecta

The disorder

5 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

1 publication

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

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06
Provenance

References & sources

4 references

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

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