Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE Survival analysis showed that PCMT1 protein high-expression was an independent unfavorable prognostic factor for bladder cancer patients. 29517839 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE We previously reported that PIMT was downregulated at both gene and protein levels by DA-induced oxidative stresses in SH-SY5Y neuroblastoma cells. 25800307 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE Furthermore, cardiac-specific deletion of PIMT in adult mice, using tamoxifen-inducible Cre-approach (TmcsPIMT<sup>-/-</sup>), results in the development of cardiomyopathy. 29772707 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE PCMT1 protein expression was obviously correlated with clinical stage, muscularis invasion, lymph node metastasis, and distant metastasis. 29517839 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE The role of protein l-isoaspartate (d-aspartate) O-methyltransferase (PCMT1) in human cancer was generally cognized. 29517839 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE We previously reported that PIMT was downregulated at both gene and protein levels by DA-induced oxidative stresses in SH-SY5Y neuroblastoma cells. 25800307 2015
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.320 Biomarker disease CTD_human Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. 16256389 2006
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		0.300 Biomarker disease CTD_human A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. 16256389 2006
CUI: C0266508
Disease: Rachischisis
Rachischisis 		0.300 Biomarker disease CTD_human A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. 16256389 2006
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.320 GeneticVariation disease LHGDN Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. 16256389 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 AlteredExpression disease LHGDN Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia. 19110265 2009
CUI: C0017638
Disease: Glioma
Glioma 		0.200 Biomarker disease RGD Expression and activity of l-isoaspartyl methyltransferase decrease in stage progression of human astrocytic tumors. 15857672 2005
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.200 Biomarker disease RGD Expression and activity of l-isoaspartyl methyltransferase decrease in stage progression of human astrocytic tumors. 15857672 2005