PLD1, phospholipase D1, 5337

N. diseases: 104; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859330
Disease: Cardiac Valvular Defect, Developmental
Cardiac Valvular Defect, Developmental 		0.600 GeneticVariation disease UNIPROT Congenital valvular defects associated with deleterious mutations in the PLD1 gene. 27799408 2017
CUI: C1859330
Disease: Cardiac Valvular Defect, Developmental
Cardiac Valvular Defect, Developmental 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital valvular defects associated with deleterious mutations in the PLD1 gene. 27799408 2017
CUI: C1859330
Disease: Cardiac Valvular Defect, Developmental
Cardiac Valvular Defect, Developmental 		0.600 CausalMutation disease CLINVAR
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Biomarker phenotype CTD_human Upregulation of phospholipase d expression and activation in ventricular pressure-overload hypertrophy. 15988127 2005
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Biomarker phenotype CTD_human In conclusion, PLD1 and PLD2 expressions were strongly enhanced both in rat and human heart hypertrophy, which may be responsible for the coincident potentiation of the PLD activation by alpha-adrenoceptor and protein kinase C stimulation. 15988127 2005
CUI: C0238281
Disease: Middle Cerebral Artery Syndrome
Middle Cerebral Artery Syndrome 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751845
Disease: Middle Cerebral Artery Embolus
Middle Cerebral Artery Embolus 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751846
Disease: Left Middle Cerebral Artery Infarction
Left Middle Cerebral Artery Infarction 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751847
Disease: Embolic Infarction, Middle Cerebral Artery
Embolic Infarction, Middle Cerebral Artery 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751848
Disease: Thrombotic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD Differential expression of phospholipase D isozymes in the hippocampus following kainic acid-induced seizures. 15330336 2004
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013