TTK, TTK protein kinase, 7272

N. diseases: 112; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.030 Biomarker disease BEFREE <b>Conclusions:</b> In summary, our data demonstrated that the USP9X-TTK axis may play a critical role in NSCLC, and could be considered as a potential therapeutic target. 29721084 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Tumor cell expression of TTK and survivin proteins was confirmed using immunohistochemistry in an expanded patient cohort. 27918555 2017
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.100 Biomarker disease BEFREE Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). 28585336 2017
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
0.050 GeneticVariation disease BEFREE Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. 28619065 2017
CUI: C3258293
Disease: Valvular disease
Valvular disease
0.010 Biomarker disease BEFREE Valvular disease prevalence is similar to MPS I and II, but appears less severe. 29735373 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.020 AlteredExpression disease BEFREE Fanconi Anaemia-Like Mph1 Helicase Backs up Rad54 and Rad5 to Circumvent Replication Stress-Driven Chromosome Bridges. 30453647 2018
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.100 Biomarker disease BEFREE Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans. 31065277 2019
Squamous cell carcinoma of the head and neck
0.010 Biomarker disease BEFREE MPS-1 has been found to be increased in the sera of a number of different cancers, including head and neck squamous cell carcinoma (HNSCC). 19642098 2010
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
0.050 GeneticVariation disease BEFREE MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate. 19751987 2010
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency
0.020 GeneticVariation disease BEFREE MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate. 19751987 2010
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. 28619065 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.010 Biomarker group BEFREE MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. 28619065 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 GeneticVariation group BEFREE TTK and other genetic loci identified in our study may contribute to the increased susceptibility to NTM infection and its progression to pulmonary disease. 28777004 2017
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.100 Biomarker disease BEFREE TTK has emerged as a promising therapeutic target in human cancers, including triple-negative breast cancer (TNBC). 29378962 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.090 Biomarker disease BEFREE TTK has emerged as a promising therapeutic target in human cancers, including triple-negative breast cancer (TNBC). 29378962 2018
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA
0.080 Biomarker disease BEFREE MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III. 29735373 2018
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation disease BEFREE Mps1 is associated with the BRAF<sup>V600E</sup> mutation and predicts poor outcome in patients with colorectal cancer. 30854056 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE MPS-1 was correlated with advanced tumor stage, suggesting its association with CRC progression. 31506433 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 AlteredExpression disease BEFREE MPS-1 expression was positively associated with circulating leptin levels in CRC patients, especially in obese cases. 31506433 2019
CUI: C0302180
Disease: Condyloma
Condyloma
0.010 Biomarker disease BEFREE MPS-1 immunoreactivity was detected in the cytoplasm and/or the perinuclear regions of condylomata cells, with marked staining in areas of active proliferation. 8074479 1994
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome
0.020 GeneticVariation disease BEFREE A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. 30575621 2019
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma
0.010 Biomarker disease BEFREE A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. 30575621 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE A novel USP9X substrate TTK contributes to tumorigenesis in non-small-cell lung cancer. 29721084 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE A previous study identified a novel gene, monopolar spindle protein kinase 1 (Mps1), a downstream target of BRAF<sup>V600E</sup> only, rather than of wild-type BRAF as well, which contributes to tumorigenesis in melanoma. 30854056 2019
CUI: C0025202
Disease: melanoma
melanoma
0.030 Biomarker disease BEFREE A previous study identified a novel gene, monopolar spindle protein kinase 1 (Mps1), a downstream target of BRAF<sup>V600E</sup> only, rather than of wild-type BRAF as well, which contributes to tumorigenesis in melanoma. 30854056 2019