Genopathy
Gene-Disorder Association · Article
Gene
TP63
Tumor Protein P63
Disorder
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
First reported 2000
Supporting publications 24
Key publication · gene–disorder AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.Pediatric dermatology · 2000
Key publication · disorder Fermi Prize: J. Robert Oppenheimer Named to Receive Annual AEC Award.Science (New York, N.Y.) · 1963
Manually curated
Association Review

In brief

The association between TP63 (Tumor Protein P63) and Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate 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 86
Symptoms 82
Compounds 0
Trials 0
Publications 24
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
TP63

The gene

1 source summary

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

Request access
04
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

59 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

86 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

24 publications

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

Request access
10
Provenance

References & sources

18 references

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

Request access