KMT5A, lysine methyltransferase 5A, 387893

N. diseases: 49; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 AlteredExpression disease BEFREE Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia. 31061493 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE The results indicate that SET8 may be a novel target for colorectal cancer therapy. 30881512 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.010 Biomarker disease BEFREE Based on our results, we suggest that SETD8 has a critical role mediating Group 3 MB tumorigenesis. 30626740 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 AlteredExpression phenotype BEFREE By contrast, SET8 overexpression aggravated the glycolytic alterations and tumor progression. 30952833 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.010 AlteredExpression disease BEFREE Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia. 31061493 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 Biomarker disease BEFREE Based on our results, we suggest that SETD8 has a critical role mediating Group 3 MB tumorigenesis. 30626740 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE Based on our results, we suggest that SETD8 has a critical role mediating Group 3 MB tumorigenesis. 30626740 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.010 AlteredExpression disease BEFREE Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia. 31061493 2019
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE The results indicate that SET8 may be a novel target for colorectal cancer therapy. 30881512 2019
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE However, the role of SETD8 in glioma progression has not been investigated. 29487005 2018
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.010 Biomarker disease BEFREE We demonstrate that shRNA-mediated or pharmacological inhibition of SETD8 selectively inhibits LUSC growth. 30127402 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 Biomarker disease BEFREE In conclusion, KMT5A may be a novel oncogenic factor, specifically a regulator for lipid metabolism in papillary thyroid carcinoma. 29512765 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE Thus, augmenting host immune responses against Mycobacterium tuberculosis by harnessing the SET8-NQO1/TRXR1 axis with its specific and potent inhibitors could lead to promising host-directed therapeutic adjuvants for tuberculosis treatment. 28931237 2017
CUI: C0238644
Disease: Anemia, severe
Anemia, severe
0.010 GeneticVariation disease BEFREE Erythroid Setd8 deletion results in embryonic lethality from severe anemia due to impaired erythroblast survival and proliferation. 29186677 2017
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE Low SET8 protein levels were negatively associated with tumor-node-metastasis staging in patients with ccRCC according to the size of tumor and lymph node metastases. 29250163 2017
CUI: C4725671
Disease: High-Risk Neuroblastoma
High-Risk Neuroblastoma
0.010 Biomarker disease BEFREE In pre-clinical xenograft NB models, genetic or pharmacological (UNC0379) SETD8 inhibition conferred a significant survival advantage, providing evidence for SETD8 as a therapeutic target in NB. 28073004 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE CRISPR/Cas9-mediated heterozygous deletion of CDKN1A (encoding p21) or SET8 in melanoma cells demonstrated that the rereplication-mediated cytotoxicity of pevonedistat is mediated through preventing the degradation of p21 and SET8 and is essential for melanoma suppression in nude mice. 27333051 2016
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE Our data indicated that SET8 was a new target for ESCC therapy. 27605386 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression group BEFREE SET8 expression was significantly higher in breast tumor tissue than in paired adjacent normal tissue. 27144429 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 Biomarker group BEFREE Mounting evidence suggested that histone H4K20-specific methyltransferase SET8 is required to maintain the malignant phenotype of various cancer types; however, the role of SET8 in mediating tumor metastasis in prostate cancer (PCa) has remained elusive. 26717907 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 AlteredExpression disease BEFREE SET8 expression is associated with overall survival in gastric cancer. 26634528 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 AlteredExpression disease BEFREE SET8 expression is associated with overall survival in gastric cancer. 26634528 2015
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation disease BEFREE Our results demonstrated that SETD8 rs16917496 C/T polymorphism was associated with decreased risk of developing pediatric ALL in Zahedan, southeast Iran. 25048968 2014
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 GeneticVariation disease BEFREE Prognostic value of microRNA 502 binding site SNP in the 3'-untranslated region of the SET8 gene in patients with non-Hodgkin's lymphoma. 25343552 2014
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.010 GeneticVariation disease BEFREE Prognostic value of microRNA 502 binding site SNP in the 3'-untranslated region of the SET8 gene in patients with non-Hodgkin's lymphoma. 25343552 2014