Previous symbols: CDKN2, MLM. Aliases: CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf, p14ARF, P16-INK4A, CAI2.
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 |
|---|---|---|
| Acute Lymphoblastic Leukemia | cooperating somatic |
mechanism: T-ALL INK4-ARF Checkpoint Loss
scoped to subtype: T-ALL
|
| Blastic Plasmacytoid Dendritic Cell Neoplasm | somatic driver somatic |
mechanism: CDKN2A and CDKN2B Deletion at 9p21.3
|
| Chondrosarcoma | somatic driver somatic |
mechanism: Cell Cycle Activation
|
| Oligoastrocytoma | somatic driver somatic | |
| Primary Central Nervous System Lymphoma | causative somatic | |
| Chordoma |
untyped
Tumor Suppressor Loss
|
|
| Cutaneous Squamous Cell Carcinoma |
untyped
Somatic Mutation/Deletion
|
|
| Diffuse Astrocytoma |
untyped
Homozygous Deletion
|
|
| EBV-Associated Gastric Cancer |
untyped
Epigenetically Silenced
|
|
| Epithelioid Hemangioendothelioma |
untyped
Secondary somatic loss
|
mechanism: CDKN2A Loss and Tumour Progression
|
| Esophageal Adenocarcinoma |
untyped
Recurrent Somatic Alteration
|
|
| Esophageal Carcinoma |
untyped
Recurrent Somatic Alteration
|
|
| Ewing Sarcoma |
untyped
Somatic Tumor Suppressor Deletion
somatic
|
|
| Gallbladder Cancer |
untyped
Somatic Loss-of-Function/Deletion
|
|
| Glioma |
untyped
Homozygous Deletion
|
|
| HPV-Negative Head and Neck Cancer |
untyped
Deletion/Methylation
|
mechanism: CDKN2A/p16 Inactivation
|
| HPV-Positive Head and Neck Cancer |
untyped
Rarely Inactivated
|
|
| IDH-Mutant Astrocytoma |
untyped
Homozygous Deletion
|
|
| Laryngeal Squamous Cell Carcinoma |
untyped
Somatic mutation or deletion
|
|
| Malignant Mesothelioma |
untyped
Homozygous Deletion
|
mechanism: CDKN2A/p16 Loss
|
| Malignant Peripheral Nerve Sheath Tumor |
untyped
Somatic deletion or loss
|
mechanism: CDKN2A/B Loss
|
| Malignant Peritoneal Mesothelioma |
untyped
Less-Prevalent Copy-Number Loss than Pleural Disease
|
|
| Melanoma_in_Congenital_Melanocytic_Nevus |
untyped
Loss of function
|
|
| Meningioma |
untyped
Homozygous or heterozygous deletion associated with progression
|
mechanism: CDKN2A/B Deletion-Associated Progression
|
| Mucoepidermoid Carcinoma | untyped somatic |
mechanism: p16-CDK4/6-RB Pathway Deregulation and High-Grade Progression
|
| Nasopharyngeal Carcinoma |
untyped
Deletion/Methylation
|
|
| Oral Cavity Squamous Cell Carcinoma |
untyped
Deletion/Methylation/Mutation
|
mechanism: CDKN2A/p16 Inactivation
scoped to subtype: HPV-Independent
|
| Ovarian Mucinous Carcinoma |
untyped
Recurrent homozygous loss/inactivation of the tumor suppressor locus
|
|
| Pancreatic Ductal Adenocarcinoma |
untyped
Somatic Loss-of-Function Mutation
|
|
| Pancreatic Mucinous Cystadenoma |
untyped
PREDISPOSING
|
|
| Paranasal Sinus Squamous Cell Carcinoma |
untyped
Somatic mutation or deletion
|
mechanism: TP53 Dysfunction
|
| Penile Cancer |
untyped
Somatic Driver Mutation
somatic
|
mechanism: HPV-Independent Somatic Tumor Suppressor Loss
|
| Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma |
untyped
Most frequent recurrent copy-number alteration
somatic
|
|
| Sinonasal Undifferentiated Carcinoma |
untyped
Co-occurring somatic loss-of-function
|
|
| Squamous Cell Carcinoma of Penis |
untyped
Somatic Driver Mutation
somatic
|
mechanism: Somatic Cell-Cycle Driver Alteration
|
| Thymic Carcinoma |
untyped
Recurrent somatic tumor suppressor loss
somatic
|
mechanism: CDKN2A and TP53 tumor suppressor loss
|
| Vulvar Carcinoma |
untyped
Somatic Alteration
somatic
|
mechanism: HPV-Independent Somatic Driver Accumulation
|
| Alzheimer Disease | no genetic record |
mechanism: Senescent Cell Accumulation
|
| BRAF V600E-Mutant Non-Small Cell Lung Cancer | no genetic record |
mechanism: Cooperating Tumor-Suppressor and Lineage-State Alterations
animal model: Mus musculus
|
| Neurofibroma | no genetic record |
mechanism: Malignant Transformation to MPNST
|
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 |
|---|---|---|---|
| melanoma-pancreatic cancer syndrome MONDO:0011713 | AD | Definitive 2019-08-14 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.