AutismKB 2.0

Annotation Detail for NDUFV2


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Basic Information Top
Gene Symbol:NDUFV2 ( CI-24k )
Gene Full Name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Band: 18p11.22
Quick LinksEntrez ID:4729; OMIM: 600532; Uniprot ID:NDUV2_HUMAN; ENSEMBL ID: ENSG00000178127; HGNC ID: 7717
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05016Huntington's disease
hsa05010Alzheimer's disease
hsa05012Parkinson's disease
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
Pathway IDPathway Name
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncou
No data
Pathway IDPathway Name
P00049Parkinson disease
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2045Bipolar disorder
2069Schizophrenia
2126Encephalopathies
Desease Name
bipolar disorder
PSYCH
NEUROLOGICAL
schizophrenia
cognitive trait
No data
Desease Name
Mitochondrial complex I deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NDUFV2 mRNAaffects expression 16483693
C005948 astaxanthine astaxanthine inhibits the reaction [LEPR gene mutant form results in increased expression of NDUFV2 mRNA]decreases reaction|increases expression 16964424
D016589 Astemizole Astemizole results in increased expression of NDUFV2 mRNAincreases expression 20221588
D001554 Benzene Benzene affects the expression of NDUFV2 mRNAaffects expression 15878777
D003024 Clozapine Clozapine results in increased expression of NDUFV2 mRNAincreases expression 19441803
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of NDUFV2 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NDUFV2 mRNAaffects cotreatment|increases expression 17942748
C069541 quetiapine quetiapine results in increased expression of NDUFV2 mRNAincreases expression 19441803
D018038 Sodium Selenite Sodium Selenite results in increased expression of NDUFV2 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NDUFV2 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of NDUFV2 mRNAdecreases expression 20399798
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NDUFV2 mRNAincreases expression 17942748
D014635 Valproic Acid Valproic Acid results in increased expression of NDUFV2 mRNAincreases expression 19135101
D014747 Vinblastine NDUFV2 protein affects the susceptibility to Vinblastineaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.978875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000380 Agranulocytosis Clozapine 5.2312649775 14617031 16160616
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000741 Anemia, Aplastic Benzene 4.4811369114 17661222 14761424
MESH:D000799 Angioedema Astemizole 5.882883202
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9918775368 18316065 19232924 17157402 15238991 17507914 17688650 20603192 19460635 18558336 18940202 18396377 18177632 16609825 18985861
MESH:D001714 Bipolar Disorder marker/mechanism 19135101
MESH:D001714 Bipolar Disorder Valproic Acid 3.1420046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3115746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.318888407
MESH:D001855 Bone Marrow Diseases Benzene 5.4516183116
MESH:D001943 Breast Neoplasms Benzene 2.2017162533 11921183
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.2020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D002292 Carcinoma, Renal Cell Vinblastine 3.841485588
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 18850075 16120746
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9817333356 17681005 15861022 17110522 11677210 16919318 16105132
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9315894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1516354765 12621046 15668235 15340226 8697196
MESH:D003072 Cognition Disorders Clozapine 5.1417123785
MESH:D015179 Colorectal Neoplasms Vinblastine 2.7618802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Benzene 3.9215643154
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.9210048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.928888407 17688650 16575769
MESH:D003872 Dermatitis Benzene 4.9415902427
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9016285004
MESH:D003924 Diabetes Mellitus, Type 2 astaxanthine 7.6016964424
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 7.6016402076
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 7.6017107852
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.7715331141
MESH:D004244 Dizziness Astemizole 6.683105558
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.4515131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4520420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.4519641884 1733752
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D050171 Dyslipidemias Clozapine 4.2816402076
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D004802 Eosinophilia Astemizole 4.971355641
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2115345470
MESH:D005234 Fatty Liver Valproic Acid 8.2114986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005499 Folliculitis Astemizole 6.131671328
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4011294989 10048152
MESH:D006402 Hematologic Diseases Benzene 4.8016183116
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0716120746 12621046 15340226
MESH:D006689 Hodgkin Disease Vinblastine 4.1518180244 18501091
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2618606429 8697196 16959395 15340226 16354765
MESH:D006948 Hyperkinesis Clozapine 5.1016046005
MESH:D006973 Hypertension Benzene 5.4717940673
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.4718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.3614714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007938 Leukemia Benzene 3.4515935818 17119257 14694614 18335105
MESH:D007951 Leukemia, Myeloid Benzene 4.4617506065
MESH:D015470 Leukemia, Myeloid, Acute Benzene 4.1919478238
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.1916294345 17596541
MESH:D017513 Lichen Nitidus Astemizole 6.682563723
MESH:D008064 Lipidoses Clozapine 4.0617567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7616984957
MESH:D008114 Liver Neoplasms, Experimental Benzene 6.2912562636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2912151625
MESH:D008133 Long QT Syndrome Astemizole 4.7011989578 18472280
MESH:D017563 Lung Diseases, Interstitial Benzene 12.1314698565
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 12.1317228818
MESH:D008175 Lung Neoplasms Benzene 2.5312562636
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5319555203 11884234
MESH:D008223 Lymphoma Benzene 3.8317584886 17119257
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2114737004
MESH:D008288 Malaria Astemizole 4.8316816845
MESH:D015674 Mammary Neoplasms, Animal Benzene 4.6412562636
MESH:D008325 Mammary Neoplasms, Experimental Benzene 3.3911921183
MESH:D008545 Melanoma Vinblastine 2.9218176117 16809738 18332650 17761969 15577320 18505091 12374674 15577323 16432458 16248763
MESH:D001523 Mental Disorders Clozapine 9.5916856516
MESH:D001523 Mental Disorders quetiapine 9.5916856516
MESH:D024821 Metabolic Syndrome X Clozapine 4.5319142101
MESH:D008881 Migraine Disorders Valproic Acid 3.2918803445 18765137
OMIM:252010 MITOCHONDRIAL COMPLEX I DEFICIENCY marker/mechanism
MESH:D009101 Multiple Myeloma Benzene 3.7617119195
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2317596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Benzene 7.8315643154
MESH:D009436 Neural Tube Defects Valproic Acid 7.8316359493 8888407
MESH:D009503 Neutropenia Vinblastine 4.7217378895
MESH:D009759 Nystagmus, Pathologic Astemizole 6.686135121
MESH:D009765 Obesity Clozapine 3.0419142110 18515891
MESH:D009784 Occupational Diseases Benzene 4.3115727169 15576619 16737584 17178637 15612468 17119257 15913788 17479406 15935809
MESH:D010051 Ovarian Neoplasms Benzene 3.0012562636
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010300 Parkinson Disease marker/mechanism
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1211896295 11118676 11222880 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.1220603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3718760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.7611422049 12752131
MESH:D011618 Psychotic Disorders Clozapine 4.2815331141
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012221 Rhinitis, Allergic, Perennial Astemizole 5.6410822083
MESH:D012559 Schizophrenia marker/mechanism 19135101
MESH:D012559 Schizophrenia Clozapine 3.8918855531 20521326 17667964 17123785 20521320 17726453 20168265 19369910 20580759 20452607 18806925 11763009 16141801 11151749 20107430
MESH:D012559 Schizophrenia Valproic Acid 3.8915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.831511512 15475178 3137016 16876388 14763951 17978042 11044598 11738929
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013274 Stomach Neoplasms Benzene 2.4212562636
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013953 Thymus Neoplasms Benzene 5.1510850423
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D016171 Torsades de Pointes Astemizole 5.408256756 9583453
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D014581 Urticaria Astemizole 4.942883202 3097109 2568189 3080510 1683191 2859714 3134034 1976298 2885854 2565098 2568013 2147912
MESH:D014594 Uterine Neoplasms Benzene 10.1212562636
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.1214692618
MESH:D014625 Vaginal Neoplasms Vinblastine 5.2215577323
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D014717 Vertigo Astemizole 6.683105558
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D015430 Weight Gain Clozapine 4.5920521320 20107430 20564506 17502770 16402076 16141801
MESH:D015431 Weight Loss Clozapine 5.2717933447
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:05016 Huntington's disease
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:05012 Parkinson's disease
REACT:6305 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00157 - NADH Dietary supplement;Micronutrient
No data
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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