Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.300 Biomarker disease PSYGENET In addition, we identified in the French cohort one affected individual with a deletion at the PLCXD3 locus and another one carrying a missense variation in PLCXD3 (p.R93H), both supporting a role of the phosphatidylinositol pathway in early-onset bipolar disorder vulnerability. 25111785 2014
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease GWASDB Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. 22137330 2012
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		0.020 GeneticVariation disease BEFREE A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. 27055460 2016
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		0.020 GeneticVariation disease BEFREE Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease. 24028506 2013
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 GeneticVariation group BEFREE A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. 27055460 2016
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		0.010 GeneticVariation disease BEFREE Sanger resequencing of CJD patients across a region of PLCXD3 with known variants confirmed three SNPs associated with variant and sporadic CJD. 24028506 2013