PXDNL, peroxidasin like, 137902

N. diseases: 8; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		0.100 GeneticVariation disease GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185 2015
CUI: C0085106
Disease: Familial benign pemphigus
Familial benign pemphigus 		0.020 GeneticVariation disease BEFREE PMR-1 function is evolutionary conserved from yeast to human, where mutations in the orthologous gene ATP2C1 cause Hailey-Hailey disease. 31771413 2019
CUI: C0085106
Disease: Familial benign pemphigus
Familial benign pemphigus 		0.020 Biomarker disease BEFREE ATP2C1 encodes the human secretory pathway Ca(2+)/Mn(2+) ATPase hSPCA1 and is orthologous to the PMR1 gene in S. cerevisiae. hSPCA1 fully complements PMR1 deficiency in yeast and pmr1DeltaS. cerevisiae has proved to be a valuable tool to screen ATP2C1 mutations and address potential pathogenic/pharmacologic mechanisms in HHD. 15811312 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE The ROC curve showed that PXDNL had beneficial diagnostic ability in breast cancer. 31689799 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE The ROC curve showed that PXDNL had beneficial diagnostic ability in breast cancer. 31689799 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 AlteredExpression disease BEFREE The Ca2+/Mn2+ ion-pump PMR1 links elevation of cytosolic Ca(2+) levels to α-synuclein toxicity in Parkinson's disease models. 23154387 2013