Genopathy
Gene-Disorder Association · Article
Gene
ERVFRD-3
Endogenous Retrovirus Group FRD Member 3
Disorder
Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome
First reported 1958
Supporting publications 7
Key publication · disorder Abnormality of the long bones and progressive muscular dystrophy in a family.Canadian Medical Association journal · 1958
Association Review

In brief

The association between ERVFRD-3 (Endogenous Retrovirus Group FRD Member 3) and Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
ERVFRD-3

The gene

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

Request access
04
Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome

The disorder

6 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
06
Literature

Reading

7 publications

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

Request access
07
Provenance

References & sources

8 references

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

Request access