Genopathy
Gene-Disorder Association · Article
Gene
LOC126806424
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr2:179456337-179457536
Disorder
Left Ventricular Noncompaction
First reported 1960
Key publication · disorder [On the behavior of glucose, glucose-1-phosphate and glycogen in the maternal and fetal myocardium].Archivio "E. Maragliano" di patologia e clinica · 1960
Association Review

In brief

The association between LOC126806424 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr2:179456337-179457536) and Left Ventricular Noncompaction is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
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
LOC126806424

The gene

1 source summary

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

Request access
04
Left Ventricular Noncompaction

The disorder

8 database identifiers

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

1 clinical variant

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

Request access
06
Provenance

References & sources

3 references

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

Request access