Genopathy
Gene-Disorder Association · Article
Gene
KREMEN1
Kringle Containing Transmembrane Protein 1
Disorder
Ectodermal Dysplasia 13, Hair/Tooth Type
First reported 2016
Supporting publications 2
Key publication · disorder Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.European journal of human genetics : EJHG · 2016
Manually curated
Association Review

In brief

The association between KREMEN1 (Kringle Containing Transmembrane Protein 1) and Ectodermal Dysplasia 13, Hair/Tooth Type is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 7
Symptoms 27
Compounds 0
Trials 0
Publications 2
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

5 sources

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

Request access
03
KREMEN1

The gene

1 source summary

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

Request access
04
Ectodermal Dysplasia 13, Hair/Tooth Type

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

11 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

7 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

2 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access