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 CausalMutation disease CLINVAR
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: 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: 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: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.100 Biomarker disease HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.100 Biomarker disease HPO
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		0.100 Biomarker disease HPO
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		0.100 Biomarker disease HPO
CUI: C2004632
Disease: aberrant right subclavian artery
aberrant right subclavian artery 		0.100 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE Expression and activity of PLD1 were up-regulated in brain tissues from AD patients, especially caveolae membrane fraction, compared with those of control brains. 16797788 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE Finally, PLD1 inhibition blocked long-term potentiation deficits normally observed in aging 3XTg-AD mice. 29560412 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE Two closest homologues of PLD3, PLD1 and PLD2, were also analyzed to comprehensively understand the role of phospholipase D members in AD. 26189833 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE Collectively, these studies provide evidence for inhibition of PLD1 as a potential therapeutic strategy in preventing progression of cognitive decline associated with AD and related dementia. 31797996 2019
CUI: C0036690
Disease: Septicemia
Septicemia 		0.030 Biomarker disease BEFREE PLD1 deficient platelets contribute to preserved outcome after LPS-induced sepsis because platelets exhibit an integrin activation defect suggesting reduced platelet activation in PLD1 deficient mice. 29968773 2018
CUI: C0036690
Disease: Septicemia
Septicemia 		0.030 Biomarker disease BEFREE Here, we evaluated the effects of a phospholipase D1 (PLD1)-selective inhibitor (VU0155069) against sepsis and inflammasome activation. 31586128 2019
CUI: C0036690
Disease: Septicemia
Septicemia 		0.030 AlteredExpression disease BEFREE Phospholipase D1 is a regulator of tumor necrosis factor-α expression and release upon LPS-induced sepsis and following myocardial infarction (MI). 30555342 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		0.030 AlteredExpression disease BEFREE Phospholipase D1 is a regulator of tumor necrosis factor-α expression and release upon LPS-induced sepsis and following myocardial infarction (MI). 30555342 2018