CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022548
Disease: Keloid
Keloid
0.010 Biomarker disease BEFREE A raised scar with the CD34<sup>-</sup> /α-SMA<sup>+</sup> /p16<sup>+</sup> phenotype with strong immunoreactivity for p16 and significant amounts of keloidal collagen, together with a thickened and strongly abnormal involucrin-stained epidermis, would sway the diagnosis towards keloid scars. 31206605 2020
CUI: C0028879
Disease: Odontogenic Cysts
Odontogenic Cysts
0.010 Biomarker disease BEFREE No significant difference in p16INK4a staining was noted between odontogenic cysts and the listed odontogenic tumors (chi-square, P = .540). 31680334 2020
CUI: C0269190
Disease: Squamous metaplasia of cervix
Squamous metaplasia of cervix
0.010 Biomarker disease BEFREE Our study demonstrates that p16 positivity in squamous metaplasia of cervix is associated with the presence of transcriptionally active high-risk HPV even when there are no clear morphologic features of dysplasia. 31498174 2020
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst
0.010 AlteredExpression disease BEFREE Prior studies have evaluated p16INK4a expression in odontogenic keratocyst and ameloblastoma, but data regarding other odontogenic cysts and tumors have been sparse. 31680334 2020
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity
0.010 Biomarker disease BEFREE BAP1 immunohistochemical and CDKN2A fluorescent in situ hybridization (FISH) techniques were performed on tissue specimens of DMPM (n=48) and peritoneal carcinomatosis (n=71) then on cell-block of DMPM (n=16), peritoneal carcinomatosis (n=25) and peritoneal benign effusion (n=5). 31713897 2020
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 AlteredExpression disease BEFREE Then the HFD-induced NAFLD mice were treated with vitamin D. Next, the serum levels of TNF-α, GSH-px and malondialdehyde (MDA) were assessed using ELISA and ROS content was evaluated by flow cytometry, followed by the measurement of expression of Duox1, Duox2, SOD1, SOD2, PRDX1 I, ACC, SREBP1c, MTTP, PPARα, p53, p21 and p16 using RT-qPCR and Western blot analysis. 31756344 2020
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
0.010 Biomarker disease BEFREE CDKN2A loss was observed in 34.9% DMPM and 2.1% peritoneal carcinoma. 31713897 2020
CUI: C1377610
Disease: Peritoneal Mesothelioma
Peritoneal Mesothelioma
0.010 Biomarker disease BEFREE BAP1 immunostaining represents an objective and reproducible diagnostic biomarker for peritoneal mesothelioma in effusion cytology specimens and should be preferred to CDKN2A FISH analysis on these precious samples. 31713897 2020
CUI: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor
0.010 AlteredExpression disease BEFREE Prior studies have evaluated p16INK4a expression in odontogenic keratocyst and ameloblastoma, but data regarding other odontogenic cysts and tumors have been sparse. 31680334 2020
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia
0.010 Biomarker disease BEFREE In addition, uptake of bromodeoxyuridine by CDA-erythroid cells was significantly decreased at the CD235a<sup>+</sup>/CD71<sup>+</sup> stage, and microarray analysis revealed that cell cycle regulator genes were dysregulated, with increased expression of negative regulators such as CDKN2C and CDKN2A. 30876823 2019
Congenital arteriovenous malformation
0.010 GeneticVariation disease BEFREE Methylation of the CDKN2A Gene Increases the Risk of Brain Arteriovenous Malformations. 31325108 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 GeneticVariation phenotype BEFREE Across p16 status and smoking history subgroups, the most common treatment-related adverse events (AEs) were diarrhea (70-91%), rash/acne (72-84%), stomatitis (34-73%) with afatinib; and included stomatitis (39-100%), fatigue (22-50%), nausea (19-36%) with methotrexate. 31450171 2019
CUI: C0015672
Disease: Fatigue
Fatigue
0.010 GeneticVariation phenotype BEFREE Across p16 status and smoking history subgroups, the most common treatment-related adverse events (AEs) were diarrhea (70-91%), rash/acne (72-84%), stomatitis (34-73%) with afatinib; and included stomatitis (39-100%), fatigue (22-50%), nausea (19-36%) with methotrexate. 31450171 2019
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral
0.010 Biomarker disease BEFREE Overexpression of p16 was not found to be a reliable biomarker for HPV infection in patients with OL and OSCC. 30842161 2019
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired
0.010 PosttranslationalModification disease BEFREE These results reveal a regulatory role of p16 gene methylation on osteoblasts activation during the development of skeletal fluorosis. 30259626 2019
CUI: C0027497
Disease: Nausea
Nausea
0.010 GeneticVariation phenotype BEFREE Across p16 status and smoking history subgroups, the most common treatment-related adverse events (AEs) were diarrhea (70-91%), rash/acne (72-84%), stomatitis (34-73%) with afatinib; and included stomatitis (39-100%), fatigue (22-50%), nausea (19-36%) with methotrexate. 31450171 2019
CUI: C0027822
Disease: Neurodermatitis
Neurodermatitis
0.010 Biomarker disease BEFREE CVIN with superimposed LSC demonstrated intense p16 positivity extending from the basal cells to the mid-epithelium and a reduction or loss of staining in maturing keratinocytes. 29750709 2019
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 GeneticVariation disease BEFREE Across p16 status and smoking history subgroups, the most common treatment-related adverse events (AEs) were diarrhea (70-91%), rash/acne (72-84%), stomatitis (34-73%) with afatinib; and included stomatitis (39-100%), fatigue (22-50%), nausea (19-36%) with methotrexate. 31450171 2019
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms
0.010 Biomarker group BEFREE All 3 neoplasms were diffusely positive with p16 (block-type immunoreactivity) and the anal canal lesion contained high-risk human papillomavirus type 16; the 2 vaginal neoplasms underwent human papillomavirus testing but were unsuitable for analysis. 29257037 2019
CUI: C0149922
Disease: Lichen Simplex Chronicus
Lichen Simplex Chronicus
0.010 Biomarker disease BEFREE CVIN with superimposed LSC demonstrated intense p16 positivity extending from the basal cells to the mid-epithelium and a reduction or loss of staining in maturing keratinocytes. 29750709 2019
CUI: C0153373
Disease: Malignant neoplasm of cheek mucosa
Malignant neoplasm of cheek mucosa
0.010 AlteredExpression disease BEFREE The prevalence of HPV16 in Chinese OSCC patients was low. p16 overexpression decoupled from HPV infection was not a prognostic marker for OSCC patients except for patients with the buccal mucosa cancer. 31594213 2019
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis
0.010 Biomarker disease BEFREE FHIT was related to HCC tumor-node-metastasis (TNM) staging, the differentiation degree in Edmondson-Steiner grading, lymph node metastasis and portal vein thrombosis (P<0.05 in all comparisons), whereas, p16 was associated with tumor size and the differentiation degree in Edmondson-Steiner grading (P<0.05 in all comparisons). 30655841 2019
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma
0.010 Biomarker disease BEFREE CK19 and BerEP4 were positive in BSC and focally in ASC but negative in CC. p16 was positive in 3 (60%) of the CCs, focally positive in ASC and negative in BSC. 31548087 2019
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular
0.010 Biomarker disease BEFREE Correlation of p16 Expression on Cancer and Stromal Cells With Clinicopathologic and Immunohistochemical Features of Lobular Breast Carcinoma. 31592814 2019
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus
0.010 GeneticVariation disease BEFREE Additional FISH analyses detected a 9p21/CDKN2A double deletion, frequently reported in melanomas but not in nevi, in the tumor initially diagnosed as a Spitz nevus with a favor malignant p16-Ki-67-HMB45 score. 28362709 2019