VDAC1, voltage dependent anion channel 1, 7416

N. diseases: 116; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		0.300 Biomarker group CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies 		0.300 Biomarker disease CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		0.300 Biomarker disease CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.300 Biomarker group CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.300 Biomarker phenotype CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		0.300 Biomarker group CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0949496
Disease: Luft Disease
Luft Disease 		0.300 Biomarker disease CTD_human Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy. 8726225 1996
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		0.010 Biomarker disease BEFREE Similarly the VDAC1 gene has been mapped between DXS986 and DXS72 and its candidate gene status for the Allan-Herndon-Dudley syndrome is discussed. 8733041 1996
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.010 Biomarker disease BEFREE Tissue-specific VDAC isoform 1 (HVDAC1) deficiency in human skeletal muscle is responsible of a rare mitochondrial encephalomyopathy, fatal in childhood. 10049775 1999
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 Biomarker group BEFREE A bioptic specimen from the muscles of a patient suffering from severe myopathy was inspected for the presence of human porin 31HL. 15254372 2000
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE Antibodies directed against the porin protein C of Escherichia coli (anti-OmpC) and Pseudomonas fluorescens (anti-I2) have recently been described in Crohn's disease (CD). 15571586 2004
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		0.010 Biomarker disease BEFREE Genetic typing of the porin protein of Neisseria gonorrhoeae from clinical noncultured samples for strain characterization and identification of mixed gonococcal infections. 15634996 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.300 Biomarker disease CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Therapeutic disease RGD Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics. 17893921 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.020 Biomarker group BEFREE Antibodies directed against Saccharomyces cerevisiae (ASCA), perinuclear components of neutrophils (pANCA), and porin protein C of Escherichia coli (anti-OmpC) are reported to be associated with disease phenotype and may be of diagnostic importance in inflammatory bowel disease (IBD). 17417801 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.020 Biomarker group BEFREE Antibodies to Saccharomyces cerevisiae (S. cerevisiae) (ASCA) and porin protein-C of Escherichia coli (anti-OmpC) are associated with disease phenotype and may be of diagnostic importance in inflammatory bowel diseases (IBD). 18047543 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.300 Biomarker disease CTD_human Quantitative proteomic profiling identifies new renal targets of copper(II)-selective chelation in the reversal of diabetic nephropathy in rats. 19634143 2009
CUI: C0017667
Disease: Nodular glomerulosclerosis
Nodular glomerulosclerosis 		0.300 Biomarker disease CTD_human Quantitative proteomic profiling identifies new renal targets of copper(II)-selective chelation in the reversal of diabetic nephropathy in rats. 19634143 2009
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Quantitative proteomic profiling identifies new renal targets of copper(II)-selective chelation in the reversal of diabetic nephropathy in rats. 19634143 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Displacing HK, serving as the 'guardian of the mitochondrion', from its binding site on VDAC1 may thus be exploited as an approach to cancer therapy. 19094960 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Displacing HK, serving as the 'guardian of the mitochondrion', from its binding site on VDAC1 may thus be exploited as an approach to cancer therapy. 19094960 2009
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 GeneticVariation disease BEFREE Reduction of VDAC1 activity with targeted gene disruption is shown to diminish survival by accelerating onset of fatal paralysis in mice expressing the ALS-causing mutation SOD1(G37R). 20797535 2010