Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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: 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: 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: 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: 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: 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: 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: 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