Genopathy
Gene-Disorder Association · Article
Gene
DEL19Q13.11P
Chromosome 19q13.11 Deletion Syndrome, Proximal
Disorder
Chromosome 19q13.11 Deletion Syndrome, Proximal
First reported 2008
Key publication · disorder Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4.Development (Cambridge, England) · 2008
Manually curated
Association Review

In brief

The association between DEL19Q13.11P (Chromosome 19q13.11 Deletion Syndrome, Proximal) and Chromosome 19q13.11 Deletion Syndrome, Proximal is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 28
Compounds 0
Trials 0
Publications 0
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
Chromosome 19q13.11 Deletion Syndrome, Proximal

The disorder

3 database identifiers

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

Request access
04
Phenotype

Clinical features

16 clinical features

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

Request access
05
Provenance

References & sources

2 references

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

Request access