Genopathy
Gene-Disorder Association · Article
Gene
H19
H19 Imprinted Maternally Expressed Transcript
Disorder
Beckwith-Wiedemann Syndrome Due To 11p15 Microdeletion
First reported 2004
Supporting publications 1
Key publication · disorder Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.Nature genetics · 2004
Manually curated
Association Review

In brief

The association between H19 (H19 Imprinted Maternally Expressed Transcript) and Beckwith-Wiedemann Syndrome Due To 11p15 Microdeletion is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 0
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

1 source

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

Request access
03
H19

The gene

1 source summary

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

Request access
04
Beckwith-Wiedemann Syndrome Due To 11p15 Microdeletion

The disorder

5 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

3 references

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

Request access