Genopathy
Gene-Disorder Association · Article
Gene
LOC129936436
ATAC-STARR-Seq Lymphoblastoid Silent Region 14183
Disorder
Osteogenesis Imperfecta, Type Vii
First reported 2006
Supporting publications 8
Key publication · gene–disorder CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.Cell · 2006
Key publication · disorder Studies related to the head-maturation pathway of bacteriophages T4 And T2:II. nuclear disruption, protein synthesis and particle formation with the mutant 43-.30-.46-.Journal of supramolecular structure · 1977
Manually curated
Association Review

In brief

The association between LOC129936436 (ATAC-STARR-Seq Lymphoblastoid Silent Region 14183) and Osteogenesis Imperfecta, Type Vii is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 55
Symptoms 50
Compounds 0
Trials 0
Publications 8
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
LOC129936436

The gene

1 source summary

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

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04
Osteogenesis Imperfecta, Type Vii

The disorder

9 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

32 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

55 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

8 publications

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

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08
Provenance

References & sources

12 references

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

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