Genopathy
Gene-Disorder Association · Article
Gene
DYNC2I2
Dynein 2 Intermediate Chain 2
Disorder
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
First reported 2017
Supporting publications 12
Key publication · gene–disorder Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.Human molecular genetics · 2017
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between DYNC2I2 (Dynein 2 Intermediate Chain 2) and Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 458
Symptoms 34
Compounds 0
Trials 0
Publications 12
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

4 sources

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

Request access
03
DYNC2I2

The gene

1 source summary

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

Request access
04
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

458 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

12 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access