Genopathy
Gene-Disorder Association · Article
Gene
CRTAP
Cartilage Associated Protein
Disorder
Osteogenesis Imperfecta, Type Ii
First reported 1950
Supporting publications 1
Key publication · disorder Osteogenesis imperfecta congenita.The Harlem Hospital bulletin · 1950
Manually curated
Association Review

In brief

The association between CRTAP (Cartilage Associated Protein) and Osteogenesis Imperfecta, Type Ii is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 38
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.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
CRTAP

The gene

1 source summary

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

Request access
04
Osteogenesis Imperfecta, Type Ii

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

25 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Literature

Reading

1 publication

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

Request access
08
Provenance

References & sources

7 references

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

Request access