Genopathy
Gene-Disorder Association · Article
Gene
MID1
Midline 1
Disorder
Mid1-Related Opitz G/Bbb Syndrome
First reported 2000
Supporting publications 15
Key publication · gene–disorder New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.Human molecular genetics · 2000
Key publication · disorder Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.American journal of medical genetics · 1996
Manually curated
Association Review

In brief

The association between MID1 (Midline 1) and Mid1-Related Opitz G/Bbb Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 57
Symptoms 0
Compounds 0
Trials 0
Publications 15
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
MID1

The gene

1 source summary

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

Request access
04
Mid1-Related Opitz G/Bbb Syndrome

The disorder

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

57 clinical variants

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

Request access
06
Literature

Reading

15 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access