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 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: 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: 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: 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 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: 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: 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: 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: 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: C0002902
Disease: Anencephaly
Anencephaly
0.010 GeneticVariation disease BEFREE Although the significance was lost after multiple comparison correction, the results implied that maternal polymorphisms in PCMT1 might be a potential genetic risk factor for isolated anencephaly in this Chinese population. 22647835 2012
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: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE The results support a role for post-translational modifications and PIMT in the development of type 1 diabetes in the diabetes-prone BB rat, and perhaps also in humans. 17216280 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE The results support a role for post-translational modifications and PIMT in the development of type 1 diabetes in the diabetes-prone BB rat, and perhaps also in humans. 17216280 2007
Diabetes Mellitus, Insulin-Dependent
0.010 Biomarker disease BEFREE The aim of this study was to assess the role of PIMT in the development of type 1 diabetes. 17216280 2007
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: C0025322
Disease: Premature Menopause
Premature Menopause
0.010 GeneticVariation disease BEFREE We found that four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF). 18582870 2009
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: C0027819
Disease: Neuroblastoma
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: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 AlteredExpression disease BEFREE This suggests that ROS generated from cytosolic dopamine could reduce both the PCMT1 gene promoter activity and the PIMT protein level thus decreasing its capacity to repair proteins involved in apoptosis and could contribute to neuronal cell death observed in PD. 24631677 2014
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.010 Biomarker disease BEFREE This study aims to explore the potential role of PCMT1 in reducing MST1-induced neuronal apoptosis after subarachnoid hemorrhage (SAH) in rats. 28534197 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.010 GeneticVariation disease BEFREE We found that four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF). 18582870 2009