AutismKB 2.0

Annotation Detail for MAK


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Basic Information Top
Gene Symbol:MAK ( dJ417M14.2 )
Gene Full Name: male germ cell-associated kinase
Band: 6p24.2
Quick LinksEntrez ID:4117; OMIM: 154235; Uniprot ID:MAK_HUMAN; ENSEMBL ID: ENSG00000111837; HGNC ID: 6816
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200038Coregulation of Androgen receptor activity
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Related Diseases/Disorders Top
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Desease IDDesease Name
1831Prostate cancer
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D013196 Dihydrotestosterone Dihydrotestosterone promotes the reaction [MAK protein binds to and results in increased activity of AR protein]affects binding|increases activity|increases reaction 16951154
D013196 Dihydrotestosterone Dihydrotestosterone promotes the reaction [[MAK protein binds to AR protein] which binds to KLK3 promoter]affects binding|increases reaction 16951154
D013196 Dihydrotestosterone Dihydrotestosterone results in increased expression of MAK proteinincreases expression 16951154
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MAK mRNAaffects expression 16483693
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MAK mRNAaffects cotreatment|increases expression 17942748
D005419 Flavonoids Flavonoids results in decreased expression of MAK mRNAdecreases expression 18035473
D010269 Paraquat Paraquat affects the expression of MAK mRNAaffects expression 16328009
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MAK mRNAaffects cotreatment|increases expression 17942748
D014028 Tobacco Smoke Pollution Tobacco Smoke Pollution results in decreased expression of MAK mRNAdecreases expression 18087596
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Tobacco Smoke Pollution 5.9715814487
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000382 Agricultural Workers' Diseases Paraquat 4.1611874814
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001172 Arthritis, Rheumatoid Tobacco Smoke Pollution 3.2319898480
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D002289 Carcinoma, Non-Small-Cell Lung Tobacco Smoke Pollution 3.5011212258
MESH:D002294 Carcinoma, Squamous Cell Tobacco Smoke Pollution 3.2711212258
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717110522 16919318 11677210 17681005 17333356 15861022 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 12621046 15340226 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005911 Gliosis Paraquat 5.6111124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 16959395 8697196 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.3317937319
MESH:D007248 Infertility, Male Paraquat 7.334850670
MESH:D007249 Inflammation Flavonoids 9.2017296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 9.2012878042 12200463
MESH:D007249 Inflammation Tobacco Smoke Pollution 9.2018590791
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6719555203 11884234
MESH:D008175 Lung Neoplasms Tobacco Smoke Pollution 2.673440675 16288123 11091918 12111688
MESH:D009062 Mouth Neoplasms Tobacco Smoke Pollution 4.5615006635
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009410 Nerve Degeneration Paraquat 3.9316893418
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010300 Parkinson Disease Paraquat 2.9011181820 16140633 16510128 15824117 11124998 15451049 12911755 11445065
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.7916190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D011014 Pneumonia Paraquat 4.8512504350
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911222880 11399792 11896295 11118676
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D011658 Pulmonary Fibrosis Paraquat 3.0017997886 16324872
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.2111700416
MESH:D012135 Respiratory Sounds Paraquat 11.1611874814
MESH:D012135 Respiratory Sounds Tobacco Smoke Pollution 11.1618410779
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012162 Retinal Degeneration Paraquat 4.0716458197
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.2816192470
MESH:D012878 Skin Neoplasms Tobacco Smoke Pollution 6.2818590791
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms Tobacco Smoke Pollution 3.4212846360
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
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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