SV2C, synaptic vesicle glycoprotein 2C, 22987

N. diseases: 15; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation disease GWASCAT Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. 25117820 2014
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.100 GeneticVariation phenotype GWASDB NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. 19557197 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE Both SV2B and SV2C are increasingly implicated in diseases such as Alzheimer's disease and Parkinson's disease. 31394034 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE SV2C has been linked to multiple neurological disorders, including Parkinson's disease and psychiatric conditions. 29274878 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE These data establish SV2C as a mediator of dopamine neuron function and suggest that SV2C disruption is a unique feature of PD that likely contributes to dopaminergic dysfunction. 28246328 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 Biomarker disease BEFREE Taken together, cross-validating evidence from humans and Drosophila suggests SV2C is involved in PD pathogenesis and it might be a useful marker for pharmacogenomics studies involving nicotine. 23032990 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE Both SV2B and SV2C are increasingly implicated in diseases such as Alzheimer's disease and Parkinson's disease. 31394034 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 Biomarker group BEFREE SV2C has been linked to multiple neurological disorders, including Parkinson's disease and psychiatric conditions. 29274878 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 AlteredExpression disease BEFREE Furthermore, SV2C expression is dramatically altered in postmortem brain tissue from PD cases but not in Alzheimer disease, progressive supranuclear palsy, or multiple system atrophy. 28246328 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 Biomarker group BEFREE In addition, recent researches have shown that SV2C regulates hypertension and accelerates venous thromboembolism (VTE) and coagulation pathways and may play roles in several non-nervous system diseases. 28774501 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 Biomarker group BEFREE In addition, recent researches have shown that SV2C regulates hypertension and accelerates venous thromboembolism (VTE) and coagulation pathways and may play roles in several non-nervous system diseases. 28774501 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 GeneticVariation group BEFREE A genetic variant in SV2C predicted clinically relevant bevacizumab-induced hypertension in two independent, randomised phase III trials. 25117820 2014
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.010 AlteredExpression disease BEFREE However, in the TG mouse brain there was a dramatic decrease in the protein level of SV2C, which has a restricted distribution pattern in regions particularly vulnerable in HD. 29713895 2018
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.010 Biomarker group BEFREE As SV2C may provide a potential novel therapeutic target for psychosis and other diseases, this article reviews the progress made thus far in understanding the structure, distribution, function and regulation of SV2C. 28774501 2017
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
0.010 Biomarker disease BEFREE As SV2C may provide a potential novel therapeutic target for psychosis and other diseases, this article reviews the progress made thus far in understanding the structure, distribution, function and regulation of SV2C. 28774501 2017
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 Biomarker phenotype BEFREE In addition, recent researches have shown that SV2C regulates hypertension and accelerates venous thromboembolism (VTE) and coagulation pathways and may play roles in several non-nervous system diseases. 28774501 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE SV2A, B proteins were identified in non-tumor (MCF-10A) and tumor cell lines (MDA-MB-231 and T47D) while SV2C only was found in the T47D cell line. 23244111 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 GeneticVariation disease BEFREE None of the polymorphisms tested in SV2A, SV2B or SV2C influence LEV response or predisposition to epilepsy. 18977120 2009