SH3PXD2A, SH3 and PX domains 2A, 9644

N. diseases: 32; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. 29290336 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. 24936775 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. 24936775 2014
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.300 Biomarker group CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.300 Biomarker disease CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		0.300 FusionGene disease ORPHANET The genomic landscape of schwannoma. 27723760 2016
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.300 FusionGene disease ORPHANET The genomic landscape of schwannoma. 27723760 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.110 GeneticVariation disease GWASCAT Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset. 30891314 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.110 AlteredExpression disease BEFREE TKS5 overexpression was regulated by the intracellular metabolic environment of RA T cells-specifically, by reduced glycolytic flux that led to deficiencies in ATP and pyruvate. 28737753 2017
CUI: C0005890
Disease: Body Height
Body Height 		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: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.100 GeneticVariation phenotype GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 AlteredExpression phenotype BEFREE Both Girdin and Tks5, but not the Tks5 nonphosphorylatable mutant, were responsible for the enhanced invadopodium formation and invasion of Dlg5-silenced HepG2 cells. 28390157 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE We speculated that SH3PXD2A may take part in the pathogenesis of PE through its role in the regulation of trophoblast cell invasion in the period of placenta formation. 23544093 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE These data indicate that tipping the Tks5 isoform balance to a high Tks5long to Tks5short ratio promotes invadopodia-mediated invasion and metastasis. 23873940 2013