Aliases: PJS, LKB1.
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 |
|---|---|---|
| Large Cell Neuroendocrine Carcinoma | somatic driver somatic |
mechanism: STK11 and KEAP1 Biallelic Inactivation
|
| Peutz-Jeghers syndrome | causative germline |
mechanism: LKB1/AMPK pathway inactivation; STK11 germline loss-of-function; Somatic STK11 second-hit and malignant transformation; Stromal TGF-beta signaling defect
|
| Small Intestine Cancer | risk factor | |
| Testicular Sex Cord-Stromal Neoplasm | risk factor germline |
mechanism: LKB1 Loss in Sertoli Cells
subtype: Large-Cell Calcifying Sertoli Cell Tumor
|
| Cervical Adenocarcinoma |
untyped
Somatic Mutation
|
|
| KRAS G12C-Mutant Non-Small Cell Lung Cancer |
untyped
Co-occurring Inactivation
|
|
| Non-Small Cell Lung Cancer |
untyped
Loss-of-function Mutations
|
|
| Peutz-Jeghers polyp | no genetic record |
mechanism: LKB1/AMPK pathway inactivation; STK11 germline loss-of-function; Stromal mesenchymal LKB1 loss with defective TGF-beta signaling; Two-hit somatic STK11 inactivation and malignant transformation
|
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 |
|---|---|---|---|
| Peutz-Jeghers syndrome MONDO:0008280 | AD | Definitive 2023-12-20 |
Peutz-Jeghers syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.