Genopathy
Gene-Disorder Association · Article
Gene
LOC126653398
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr21:45928270-45929469
Disorder
Ectodermal Dysplasia 14
First reported 2016
Key publication · disorder Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.PLoS genetics · 2016
Association Review

In brief

The association between LOC126653398 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr21:45928270-45929469) and Ectodermal Dysplasia 14 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 5
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
LOC126653398

The gene

1 source summary

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

Request access
04
Ectodermal Dysplasia 14

The disorder

2 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

5 clinical variants

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

Request access
06
Provenance

References & sources

2 references

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

Request access