Previous symbols: TP73L, TP53L, TP53CP. Aliases: p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP, p40.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Anaplastic Large Cell Lymphoma | biomarker somatic |
scoped to subtype: Systemic ALK-Negative
|
| TP63-Related Ectodermal Dysplasia Spectrum | causative |
mechanism: TP63 Mutations and p63 Transcription Factor Dysfunction
subtype: ADULT; AEC; EEC3; LMS; RHS
|
| Cleft Lip/Palate |
untyped
Risk Factor
|
|
| Esophageal Squamous Cell Carcinoma |
untyped
Co-amplified Squamous Lineage Transcription Factor
|
mechanism: SOX2/TP63 Lineage Program Activation
|
| Split Hand-Foot Malformation | no genetic record |
mechanism: Apical Ectodermal Ridge Maintenance Failure
subtype: SHFM4
|
| Split-Foot Malformation with Mesoaxial Polydactyly | no genetic record |
mechanism: Reduced Hindlimb Bud Trp63 Expression
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 MONDO:0011428 | AD | Definitive 2024-10-17 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.