Genopathy
Gene-Disorder Association · Article
Gene
P3H1
Prolyl 3-Hydroxylase 1
Disorder
Osteogenesis Imperfecta, Type Viii
First reported 2016
Supporting publications 29
Key publication · gene–disorder Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.The Journal of clinical endocrinology and metabolism · 2016
Key publication · disorder Genetic heterogeneity in osteogenesis imperfecta.Journal of medical genetics · 1979
Manually curated
Association Review

In brief

The association between P3H1 (Prolyl 3-Hydroxylase 1) and Osteogenesis Imperfecta, Type Viii is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 805
Symptoms 49
Compounds 0
Trials 0
Publications 29
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
P3H1

The gene

1 source summary

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

Request access
04
Osteogenesis Imperfecta, Type Viii

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

27 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

805 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

29 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access