AutismKB 2.0

Annotation Detail for PDHA1


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Basic Information Top
Gene Symbol:PDHA1 ( PDHA,PDHCE1A,PHE1A )
Gene Full Name: pyruvate dehydrogenase (lipoamide) alpha 1
Band: Xp22.12
Quick LinksEntrez ID:5160; OMIM: 300502; Uniprot ID:ODPA_HUMAN; ENSEMBL ID: ENSG00000131828; HGNC ID: 8806
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PYRUVDEHYD-PWYacetyl-CoA biosynthesis (from pyruvate)
Pathway IDPathway Name
hsa00010Glycolysis / Gluconeogenesis
hsa00020Citrate cycle (TCA cycle)
hsa01100Metabolic pathways
hsa00650Butanoate metabolism
hsa00620Pyruvate metabolism
hsa00290Valine, leucine and isoleucine biosynthesis
Pathway IDPathway Name
Pyruvate metabolism and Citric Acid (TCA) cycle
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00072Pyruvate dehydrogenase complex deficiency
Inherited disorders of carbohydrate metabolism
Genetic disorders
No data
No data
No data
Desease Name
Leigh syndrome, X-linked
Pyruvate dehydrogenase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of PDHA1 mRNAincreases expression 19933214
C015802 2,6-dichloro-4-nitrophenol 2,6-dichloro-4-nitrophenol results in decreased expression of PDHA1 mRNAdecreases expression 11227219
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PDHA1 mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PDHA1 mRNAaffects expression 16483693
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PDHA1 mRNAaffects cotreatment|increases expression 17942748
C011890 kojic acid kojic acid results in increased expression of PDHA1 mRNAincreases expression 16595896
C037219 quinoline quinoline analog results in increased expression of PDHA1 proteinincreases expression 18645022
C059514 resveratrol resveratrol results in decreased expression of PDHA1 mRNAdecreases expression 15582268
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PDHA1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000140 Acidosis, Lactic marker/mechanism 2537010
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D058186 Acute Kidney Injury resveratrol 4.0616538975
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.213712494
MESH:D000236 Adenoma resveratrol 7.2115688382
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000544 Alzheimer Disease resveratrol 2.6016162502 16183991
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.7615885639
MESH:D001169 Arthritis, Experimental resveratrol 7.7617115116
MESH:D050197 Atherosclerosis resveratrol 3.3816873680 17967414
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.3411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D002545 Brain Ischemia resveratrol 4.5717600658
MESH:D001943 Breast Neoplasms resveratrol 2.1217651959 17534123 16393696
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 5.007296757 3581430
MESH:D006528 Carcinoma, Hepatocellular quinoline 5.00598648
MESH:D006528 Carcinoma, Hepatocellular resveratrol 5.0019321006 16227395
MESH:D018827 Carcinoma, Lewis Lung resveratrol 4.8816675471
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002294 Carcinoma, Squamous Cell resveratrol 2.7616227395
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002318 Cardiovascular Diseases resveratrol 3.6115458977
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.897505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.369022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3616919318 11677210 16105132 15861022 17681005 17110522 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 12621046 8697196 15668235 16354765
MESH:D003092 Colitis resveratrol 4.3916474422
MESH:D003110 Colonic Neoplasms resveratrol 2.4816338953
MESH:D015179 Colorectal Neoplasms resveratrol 2.2216550006
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D003327 Coronary Disease resveratrol 3.8716507316
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0612868966 2524372 18759878 8970840 8156756 11298694 14531868 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003921 Diabetes Mellitus, Experimental resveratrol 3.9416873680
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies resveratrol 4.1416286809
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.868291058 6482804 18289764 18648102 9022650 6679447 18692083 9328219 16192314 11289319 1440618 7440962 9653073
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema resveratrol 7.558985016
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9312538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental resveratrol 9.9317872969
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D020345 Enterocolitis, Necrotizing resveratrol 5.1117923197
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0215345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006390 Hemangioendothelioma quinoline 6.22598648
MESH:D006394 Hemangiosarcoma quinoline 5.20598648
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1512621046 16120746 15340226
MESH:D006561 Herpes Simplex resveratrol 4.4616876885
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616959395 15340226 16354765 8697196 18606429
MESH:D006937 Hypercholesterolemia resveratrol 4.2117188708
MESH:D006949 Hyperlipidemias resveratrol 4.2516873680
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D017379 Hypertrophy, Left Ventricular resveratrol 4.5017488730
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D020244 Infarction, Middle Cerebral Artery resveratrol 4.9117600658
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation resveratrol 5.3916366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3912878042 12200463
MESH:D007251 Influenza, Human resveratrol 4.8616624496
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.349022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.146582329
OMIM:308930 LEIGH SYNDROME, X-LINKED marker/mechanism
MESH:D015473 Leukemia, Promyelocytic, Acute resveratrol 3.7016087638
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms resveratrol 4.8020405173 19812893 19321006 19073162
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8016984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.593712494 1399818 6587162 598648
MESH:D008114 Liver Neoplasms, Experimental kojic acid 10.5918544905
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5912151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D016393 Lymphoma, B-Cell resveratrol 4.5217088997
MESH:D008228 Lymphoma, Non-Hodgkin resveratrol 4.0414749477
MESH:D015674 Mammary Neoplasms, Animal resveratrol 4.5315688416
MESH:D008325 Mammary Neoplasms, Experimental resveratrol 3.2311606380 8985016
MESH:D008545 Melanoma resveratrol 2.3917992120
MESH:D008659 Metabolic Diseases resveratrol 4.5817112576
MESH:D009101 Multiple Myeloma resveratrol 3.6117935668 16490592 17164350 17049120 14749477 16267019
MESH:D009134 Muscular Atrophy, Spinal resveratrol 5.1617962980
MESH:D009203 Myocardial Infarction resveratrol 3.1016317513 17188708 16456233 17015251 17125593 16525036
MESH:D017202 Myocardial Ischemia resveratrol 9.5617015251 17125593
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.5612213967
MESH:D009205 Myocarditis resveratrol 5.0417322642
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.483581430
MESH:D009362 Neoplasm Metastasis quinoline 6.48598648
MESH:D009374 Neoplasms, Experimental resveratrol 4.268985016
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.046679447
MESH:D019636 Neurodegenerative Diseases resveratrol 3.9817652729
MESH:D020078 Neurogenic Inflammation resveratrol 4.6217929310
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.616482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D015663 Osteoporosis, Postmenopausal resveratrol 4.4817513867
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects resveratrol 10.5616679765
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.5611118676 11222880 11399792 11896295
MESH:D011471 Prostatic Neoplasms marker/mechanism 17013881
MESH:D011471 Prostatic Neoplasms resveratrol 3.6016731767 17636462 17718901 17804756 17675339 15767336
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:C536256 Pyruvate decarboxylase deficiency marker/mechanism 2378353
MESH:D015325 Pyruvate Dehydrogenase Complex Deficiency Disease marker/mechanism 2378353
MESH:D015323 Pyruvate Metabolism, Inborn Errors marker/mechanism 2378353
MESH:D051436 Renal Insufficiency, Chronic resveratrol 5.9016325855
MESH:D015427 Reperfusion Injury resveratrol 3.3617058453 15827377 16314181 17520802 16317513
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012878 Skin Neoplasms resveratrol 6.008985016 15837718
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
OMIM:601367 STROKE, ISCHEMIC resveratrol 4.6716321402
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.041399818 7505956 3712494 6587162 6582329
MESH:D014062 Tongue Neoplasms resveratrol 4.4116227395
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.348074119
MESH:D002583 Uterine Cervical Neoplasms resveratrol 4.2917473185
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.3014692618
MESH:D014594 Uterine Neoplasms resveratrol 10.3017044934
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7515869587 14671159
MESH:D018487 Ventricular Dysfunction, Left resveratrol 4.5617488730
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
KEGG:00650 Butanoate metabolism
KEGG:00020 Citrate cycle (TCA cycle)
KEGG:00010 Glycolysis / Gluconeogenesis
KEGG:01100 Metabolic pathways
KEGG:00620 Pyruvate metabolism
REACT:1046 Pyruvate metabolism and Citric Acid (TCA) cycle
KEGG:00290 Valine, leucine and isoleucine biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33150
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00157 - NADH Dietary supplement;Micronutrient
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    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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