Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.320 GeneticVariation disease BEFREE Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population. 22647835 2012
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: 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: C0080178
Disease: Spina Bifida
Spina Bifida 		0.320 GeneticVariation disease BEFREE 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: 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE Pcmt1 knockout mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure. 29856810 2018
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.030 Biomarker phenotype BEFREE Pcmt1 knockout mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure. 29856810 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE Pcmt1 knock-out mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure. 28100787 2017
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.030 Biomarker phenotype BEFREE Pcmt1 knock-out mice exhibit a profound neuropathology and die 30-60 days postnatal from an epileptic seizure. 28100787 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Mice with a knockout of the gene (Pcmt1) for this enzyme (KO, -/-) exhibit a pronounced neuropathology with fatal epileptic seizures at 30-60 days. 25465735 2015
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.030 GeneticVariation phenotype BEFREE Mice with a knockout of the gene (Pcmt1) for this enzyme (KO, -/-) exhibit a pronounced neuropathology with fatal epileptic seizures at 30-60 days. 25465735 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 GeneticVariation group BEFREE Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area. 22647835 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 GeneticVariation group BEFREE We hypothesized that a known functional polymorphism (Ile120Val) in the human PCMT1 gene is associated with an increased risk of folate-responsive human NTDs. 16256389 2006
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: C0018801
Disease: Heart failure
Heart failure 		0.010 Biomarker disease BEFREE Thus, cumulative evidence suggests that PIMT functions in cardiac energy metabolism by interacting with nuclear receptor coactivators and this property could be useful in the management of heart failure. 29772707 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 Biomarker disease BEFREE Thus, cumulative evidence suggests that PIMT functions in cardiac energy metabolism by interacting with nuclear receptor coactivators and this property could be useful in the management of heart failure. 29772707 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		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: 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: 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