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: 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: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE We investigated the prognostic significance of Tks5 and cortactin expression in 57 patients with various grades of glioma. 22249020 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 AlteredExpression phenotype BEFREE They included secreted factors (CSF2, SDF-1), proteolytic enzymes (MMP9, CST7), cytoskeleton modulators (SDC2, Twinfilin, SH3PXD2A), intracellular signaling molecules (DUSP1, SPHK1, RASD1) and transcription factors (Sox9, SNAI2, SMAD3) functioning in epithelium to mesenchyme transition (EMT), tissue invasion, as well as homing and attachment to bone. 20863401 2010
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 Biomarker group BEFREE These results suggest a prognostic relevance for the Tks5 invadopodial protein in glial-derived brain tumours. 22249020 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 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
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
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma
0.300 FusionGene disease ORPHANET The genomic landscape of schwannoma. 27723760 2016
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: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Rescue experiments suggested that SH3PXD2A-ASl-mediated oncogenesis was impaired by overexpression of P57 or KLF2. 29734178 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Rescue assays were used to determine whether P57 and Kruppel-like factor 2 (KLF2) were involved in SH3PXD2A-ASl-dependent CRC proliferation. 29734178 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: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Our research has identified several examples in which reduced VEGF-A binding to deficient vascular extracellular matrix leads to deficits in tumor vascularization and tumor growth: (1) germline ablation of collagen VI in the stroma of intracranial B16F10 melanomas; (2) knockdown of the Tks5 scaffolding protein in MDA-MB-231 mammary tumor cells; (3) germline ablation of NG2 proteoglycan in the stroma of MMTV-PyMT mammary tumors; and (4) myeloid-specific ablation of NG2 in the stroma of intracranial B16F10 melanomas. 28788063 2017
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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0025202
Disease: melanoma
melanoma
0.010 AlteredExpression disease BEFREE Moreover, metastatic melanoma cases showed higher expression of Tks5 than primary melanoma cases. 27802184 2016
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 PosttranslationalModification phenotype BEFREE Methylation in six out of nine (67%) gestational diabetes-associated genes was validated and we also showed that methylation of SH3PXD2A was significantly (P<0.05) associated with multiple adiposity-related outcomes. 29461653 2018
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 GeneticVariation disease BEFREE Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. 17440933 2007
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: 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