Genopathy
Gene-Disorder Association · Article
Gene
DYNC2H1
Dynein Cytoplasmic 2 Heavy Chain 1
Disorder
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
First reported 2009
Supporting publications 61
Key publication · gene–disorder DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.American journal of human genetics · 2009
Key publication · disorder [Asphyxiating thoracic dystrophy with familial characteristics].Archives francaises de pediatrie · 1955
Manually curated
Association Review

In brief

The association between DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1) and Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 2,865
Symptoms 81
Compounds 0
Trials 0
Publications 61
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

3 sources

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

Request access
03
DYNC2H1

The gene

1 source summary

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

Request access
04
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

54 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

2,865 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

61 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access