PAPPA2, pappalysin 2, 60676

N. diseases: 28; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height 		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: C1314691
Disease: Age at menarche
Age at menarche 		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: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.100 GeneticVariation phenotype GWASCAT Genetic determinants of circulating GIP and GLP-1 concentrations. 29093273 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 GeneticVariation phenotype GWASDB A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. 23509962 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 GeneticVariation group GWASDB Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. 22941190 2012
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE Mutations in the pregnancy-associated plasma protein A2 (PAPP-A2) gene have recently been shown to cause postnatal growth failure in two prepubertal patients from a non-consanguineous Spanish family due to the resulting decrease in IGF1 bioavailability. 30119035 2019
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE Mutations in the pregnancy-associated plasma protein A2 (PAPP-A2) gene have recently been shown to cause postnatal growth failure in two prepubertal patients from a non-consanguineous Spanish family due to the resulting decrease in IGF1 bioavailability. 30119035 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE Homozygous mutations in PAPP-A2 result in growth failure with elevated total but low free IGF-1. 29029190 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 Biomarker disease BEFREE This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy-associated plasma protein-A2 (PAPP-A2), one of the proteases involved in liberating IGF-1 from the complexes in which it circulates, in patients with delayed growth failure. 28801361 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. 29238946 2017
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 Biomarker phenotype BEFREE This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy-associated plasma protein-A2 (PAPP-A2), one of the proteases involved in liberating IGF-1 from the complexes in which it circulates, in patients with delayed growth failure. 28801361 2017
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. 29238946 2017
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE Homozygous mutations in PAPP-A2 result in growth failure with elevated total but low free IGF-1. 29029190 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. 27648969 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.060 GeneticVariation disease BEFREE Two different homozygous mutations in PAPPA2, p.D643fs25* and p.Ala1033Val, were associated with this novel syndrome of growth failure. 26902202 2016
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE Two different homozygous mutations in PAPPA2, p.D643fs25* and p.Ala1033Val, were associated with this novel syndrome of growth failure. 26902202 2016
CUI: C0878787
Disease: Growth failure
Growth failure 		0.060 GeneticVariation phenotype BEFREE Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. 27648969 2016