AutismKB 2.0

Annotation Detail for NPC1


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Basic Information Top
Gene Symbol:NPC1 ( FLJ98532,NPC )
Gene Full Name: Niemann-Pick disease, type C1
Band: 18q11.2
Quick LinksEntrez ID:4864; OMIM: 607623; Uniprot ID:NPC1_HUMAN; ENSEMBL ID: ENSG00000141458; HGNC ID: 7897
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00136Niemann-Pick type C disease
Genetic disorders
No data
Desease Name
Alzheimer's disease
NEUROLOGICAL
METABOLIC
obesity
Niemann-Pick type C disease
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C076996 27-hydroxycholesterol NPC1 protein affects the abundance of 27-hydroxycholesterolaffects abundance 18483620
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of NPC1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of NPC1 mRNAaffects expression 17562736
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of NPC1 mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NPC1 mRNAdecreases expression 19131362
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NPC1 proteindecreases expression 19131362
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NPC1 mRNAdecreases expression 19131362
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NPC1 mRNAdecreases expression 19150397
C006780 bisphenol A bisphenol A results in decreased expression of NPC1 mRNAdecreases expression 20678512
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of NPC1 mRNAincreases expression 15336504
D002211 Capsaicin Capsaicin results in increased expression of NPC1 mRNAincreases expression 18533110
D002784 Cholesterol NPC1 protein affects the abundance of Cholesterolaffects abundance 18483620
D016572 Cyclosporine Cyclosporine results in increased expression of NPC1 mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of NPC1 mRNAdecreases expression 18042831
C098720 fingolimod fingolimod results in increased expression of NPC1 proteinincreases expression 20056921
C098720 fingolimod NPC1 protein affects the reaction [fingolimod results in increased expression of ABCA1 protein]affects reaction|increases expression 20056921
C027185 indirubin indirubin results in increased expression of NPC1 mRNAincreases expression 15056799
C041786 palm oil palm oil results in decreased expression of NPC1 mRNAdecreases expression 18042831
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NPC1 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of NPC1 mRNAdecreases expression 18445702
C059514 resveratrol resveratrol results in increased expression of NPC1 mRNAincreases expression 19371625
D013467 Sulindac Sulindac results in increased expression of NPC1 mRNAincreases expression 11906190
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of NPC1 protein]affects reaction|decreases expression 19131362
D013749 Tetrachlorodibenzodioxin ARNT protein affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of NPC1 protein]affects reaction|decreases expression 19131362
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of NPC1 mRNAdecreases expression 19131362
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of NPC1 proteindecreases expression 19131362
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NPC1 mRNAincreases expression 15056799
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 5.4414745880
MESH:D000014 Abnormalities, Drug-Induced Capsaicin 8.4918926900
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.4914514962 11752688 15322242
MESH:D058186 Acute Kidney Injury Capsaicin 14.3018460982
MESH:D058186 Acute Kidney Injury resveratrol 14.3016538975
MESH:D058186 Acute Kidney Injury Sulindac 14.307897758
MESH:D055371 Acute Lung Injury pirinixic acid 3.0518653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6020127859 20464547
MESH:D000230 Adenocarcinoma Sulindac 4.6011910360
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 15.713712494
MESH:D000236 Adenoma Benzo(a)pyrene 15.716695378
MESH:D000236 Adenoma resveratrol 15.7115688382
MESH:D000236 Adenoma Sulindac 15.7110223192
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7016835633
MESH:D011125 Adenomatous Polyposis Coli Sulindac 4.5416460482 11535846 19003578 11874996 15623613 17611924 12394442
MESH:D000505 Alopecia Capsaicin 4.6717569567
MESH:D000544 Alzheimer Disease 27-hydroxycholesterol 4.8120157255 14523054
MESH:D000544 Alzheimer Disease resveratrol 4.8116162502 16183991
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8911748828
MESH:D000799 Angioedema Acetaminophen 3.7910982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0119183758
MESH:D001161 Arteriosclerosis Dietary Fats 3.8215238619
MESH:D001169 Arthritis, Experimental resveratrol 3.4617115116
MESH:D050197 Atherosclerosis therapeutic 18483620
MESH:D050197 Atherosclerosis 27-hydroxycholesterol 15.609059518 11166758
MESH:D050197 Atherosclerosis Cholesterol 15.6016632123
MESH:D050197 Atherosclerosis fingolimod 15.6020056921
MESH:D050197 Atherosclerosis resveratrol 15.6016873680 17967414
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.961440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.5619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.5612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7215746008
MESH:D001862 Bone Resorption bisphenol A 3.8011985600
MESH:D001913 Bowen's Disease Sulindac 5.3011207687
MESH:D001919 Bradycardia Capsaicin 4.9918207255
MESH:D002545 Brain Ischemia Capsaicin 10.3619211983
MESH:D002545 Brain Ischemia resveratrol 10.3617600658
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.9320146248 17474063
MESH:D001943 Breast Neoplasms bisphenol A 2.9317123778
MESH:D001943 Breast Neoplasms Dietary Fats 2.9320435547
MESH:D001943 Breast Neoplasms resveratrol 2.9316393696 17651959 17534123
MESH:D001943 Breast Neoplasms Sulindac 2.9316642371
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7416835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.523581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.523084413
MESH:D006528 Carcinoma, Hepatocellular resveratrol 4.5216227395 19321006
MESH:D002278 Carcinoma in Situ bisphenol A 4.9317123778
MESH:D018827 Carcinoma, Lewis Lung resveratrol 4.5316675471
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.647296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6620419170
MESH:D002294 Carcinoma, Squamous Cell resveratrol 4.6616227395
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3318850075 18670907 16120746
MESH:D002318 Cardiovascular Diseases resveratrol 3.4315458977
MESH:D002386 Cataract Acetaminophen 2.5410977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 10.877505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 10.8720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 10.8712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1016835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.099022650 19486331
MESH:D002779 Cholestasis Cyclosporine 13.0919486331
MESH:D002779 Cholestasis pirinixic acid 13.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.088697196 12621046 15668235 16354765 15340226
MESH:D003092 Colitis resveratrol 4.0616474422
MESH:D003110 Colonic Neoplasms resveratrol 4.1216338953
MESH:D003110 Colonic Neoplasms Sulindac 4.1212458338 12902858
MESH:D015179 Colorectal Neoplasms resveratrol 2.9216550006
MESH:D015179 Colorectal Neoplasms Sulindac 2.9211197048 10666051 18059344 11076880
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0014669216 17141729
MESH:D003327 Coronary Disease resveratrol 3.7116507316
MESH:D003371 Cough Capsaicin 5.1210350223
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2515322242 10048152 20055451
MESH:D003715 Dengue 27-hydroxycholesterol 5.6219427377
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.748970840 11906362 11298694 14531868 12868966 2524372 18759878 8156756
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.432952479 3621924
MESH:D003921 Diabetes Mellitus, Experimental resveratrol 3.7116873680
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6517107852
MESH:D003928 Diabetic Nephropathies resveratrol 3.9016286809
MESH:D003930 Diabetic Retinopathy Sulindac 5.1117621415 12861449
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.008291058 6482804 18289764 7440962 18648102 9653073 18692083 6679447 11289319 9022650 9328219 1440618 16192314
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.0012540782 10915739 17562736 19085960 12594235 15968718 19420014 11739529 10663392 14986274 15619225 11461765 11421492 12705907 10774834 12958197 19923254 16109766 11529661 16781746 12153990 16081117 19370779 17906064 16485898 11834606 12392966 16227642 2444490 18071297 14550746 11743745 16393943 18713872 17522070 16177239 19164858 14725611 19739265 11287661 19416960
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.0020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7111462148
MESH:D004381 Duodenal Ulcer Capsaicin 4.6310671773 11535926
MESH:D050171 Dyslipidemias Dietary Fats 3.4018367378
MESH:D004487 Edema pirinixic acid 11.0812083418
MESH:D004487 Edema resveratrol 11.088985016
MESH:D004487 Edema Tetrachlorodibenzodioxin 11.0812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8516714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental 27-hydroxycholesterol 9.6417410599
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental resveratrol 9.6417872969
MESH:D004715 Endometriosis Sulindac 8.9915652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 8.9910568697 9294722
MESH:D020345 Enterocolitis, Necrotizing resveratrol 4.7817923197
MESH:D004935 Esophageal Diseases Capsaicin 5.6419566590
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 10.283581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 10.2820426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 10.2816530937
MESH:D004938 Esophageal Neoplasms Sulindac 10.2812235107
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9611564622
MESH:D005234 Fatty Liver Cyclosporine 12.7019224547
MESH:D005234 Fatty Liver Dietary Fats 12.7019551842 19004024 17967931 18296743
MESH:D005234 Fatty Liver pirinixic acid 12.7019236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.966705139
MESH:D018221 Fibromatosis, Abdominal Sulindac 5.4214745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 5.0719069698
MESH:D005355 Fibrosis Cyclosporine 14.3512639820 12168785
MESH:D005355 Fibrosis Dietary Fats 14.3518296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 14.3520067830
MESH:D005756 Gastritis Acetaminophen 3.6216983495
MESH:D005764 Gastroesophageal Reflux Sulindac 4.9511910360
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.168708960
MESH:D005909 Glioblastoma Capsaicin 4.0718405923
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.977505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5410696789
MESH:D006356 Heartburn Capsaicin 5.6419566590
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.3320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.3310048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5020558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2711000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.456705139
MESH:D006529 Hepatomegaly pirinixic acid 8.0516221962 19176532 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.0515340226 16120746 12621046
MESH:D006561 Herpes Simplex resveratrol 4.1216876885
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9916959395 15340226 16354765 8697196 18606429
MESH:D006930 Hyperalgesia Acetaminophen 7.8516870215
MESH:D006930 Hyperalgesia Capsaicin 7.8517043245 17434803
MESH:D006937 Hypercholesterolemia 27-hydroxycholesterol 21.4317873880
MESH:D006937 Hypercholesterolemia Cholesterol 21.4316933029
MESH:D006937 Hypercholesterolemia Dietary Fats 21.4321332399
MESH:D006937 Hypercholesterolemia resveratrol 21.4317188708
MESH:D006943 Hyperglycemia pirinixic acid 3.1220558911
MESH:D006949 Hyperlipidemias Dietary Fats 9.0821332399
MESH:D006949 Hyperlipidemias resveratrol 9.0816873680
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.8815034207
MESH:D006968 Hypersensitivity, Delayed indirubin 5.8811275354
MESH:D006973 Hypertension Cyclosporine 4.8610903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8618670907 18850075
MESH:D017379 Hypertrophy, Left Ventricular resveratrol 4.2417488730
MESH:D020244 Infarction, Middle Cerebral Artery resveratrol 4.5817600658
MESH:D007249 Inflammation Capsaicin 15.5416956363
MESH:D007249 Inflammation Dietary Fats 15.5420412841
MESH:D007249 Inflammation resveratrol 15.5416366677
MESH:D007249 Inflammation Sulindac 15.543291741
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 15.5412878042 12200463
MESH:D007251 Influenza, Human resveratrol 4.4916624496
MESH:D007333 Insulin Resistance bisphenol A 12.0816393666
MESH:D007333 Insulin Resistance Dietary Fats 12.0811836018 18457598
MESH:D007333 Insulin Resistance pirinixic acid 12.0816306350
MESH:D007414 Intestinal Neoplasms Sulindac 4.5712584176 12628509 12351151 10223192 12663524 10213222
MESH:D007417 Intestinal Polyps Sulindac 4.9211245490 12394442
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.968074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2716580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3915604871
MESH:D007674 Kidney Diseases Acetaminophen 5.6712587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 5.6718776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.086582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.0812371664
MESH:D007859 Learning Disorders Cholesterol 5.0317134702
MESH:D015473 Leukemia, Promyelocytic, Acute resveratrol 3.5316087638
MESH:D008103 Liver Cirrhosis Dietary Fats 2.8418296743
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 8.379327722 15034207
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 8.3712468960
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1112878042
MESH:D008107 Liver Diseases Acetaminophen 6.6612969438 11587558 16610002 16611625 19460945 12587719 19784758 19014921
MESH:D008107 Liver Diseases Capsaicin 6.6616956363
MESH:D008107 Liver Diseases Sulindac 6.6616867024 14986274
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1817185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.4821137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 10.4820007298 15890375 16377806
MESH:D008113 Liver Neoplasms resveratrol 10.4819321006 19073162 19812893 20405173
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.4816984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.596587162 598648 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.5912151625
MESH:D055370 Lung Injury Asbestos, Crocidolite 3.9617365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.436695378 20064080 18816296 18520028 18569708 20869020 20464547 17053015 20135361
MESH:D008175 Lung Neoplasms Sulindac 3.4319359593 15713900
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4319555203 11884234
MESH:D016393 Lymphoma, B-Cell resveratrol 4.2417088997
MESH:D008228 Lymphoma, Non-Hodgkin resveratrol 3.8114749477
MESH:D015674 Mammary Neoplasms, Animal resveratrol 4.1915688416
MESH:D008325 Mammary Neoplasms, Experimental resveratrol 3.0711606380 8985016
MESH:D008545 Melanoma resveratrol 3.7517992120
MESH:D008545 Melanoma Sulindac 3.7516642371
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5019513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.1618303189 16166281 16966607
MESH:D008659 Metabolic Diseases resveratrol 4.3117112576
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7316801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1416381670
MESH:D009101 Multiple Myeloma Capsaicin 7.6517505005
MESH:D009101 Multiple Myeloma resveratrol 7.6516490592 16267019 17049120 17164350 14749477 17935668
MESH:D009134 Muscular Atrophy, Spinal resveratrol 4.8117962980
MESH:D009135 Muscular Diseases pirinixic acid 3.4416239165
MESH:D009203 Myocardial Infarction pirinixic acid 5.6519151258
MESH:D009203 Myocardial Infarction resveratrol 5.6516525036 16317513 16456233 17125593 17015251 17188708
MESH:D017202 Myocardial Ischemia resveratrol 8.8317125593 17015251
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 8.8312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.8916411023
MESH:D009205 Myocarditis resveratrol 4.7017322642
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.443581430
MESH:D009369 Neoplasms Benzo(a)pyrene 4.7111141357
MESH:D009369 Neoplasms pirinixic acid 4.7117405874
MESH:D009374 Neoplasms, Experimental resveratrol 3.948985016
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3917954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2319348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 9.3716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.3714600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.876679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 13.8618514411
MESH:D019636 Neurodegenerative Diseases resveratrol 13.8617652729
MESH:D019636 Neurodegenerative Diseases Sulindac 13.8616850258 17266991
MESH:D020078 Neurogenic Inflammation Capsaicin 10.7517961222
MESH:D020078 Neurogenic Inflammation resveratrol 10.7517929310
MESH:D052556 Niemann-Pick Disease, Type C marker/mechanism 9802331
MESH:D052556 Niemann-Pick Disease, Type C Cholesterol 5.6420557099 9802331
MESH:D009765 Obesity marker/mechanism 19151714
MESH:D009765 Obesity Capsaicin 7.4319056576
MESH:D009765 Obesity Dietary Fats 7.4320518802 21332399 18457598 17217161 18674790 11836018 20132043 16723640 19632207
MESH:D009765 Obesity pirinixic acid 7.4320558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.364026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.963988306
MESH:D015663 Osteoporosis, Postmenopausal resveratrol 4.1917513867
MESH:D010049 Ovarian Diseases bisphenol A 4.9311985600
MESH:D010146 Pain Acetaminophen 11.1416870215
MESH:D010146 Pain Capsaicin 11.1417043245 18987195 17084039 19081190 17434803 16996476
MESH:D010146 Pain Sulindac 11.143291741
MESH:D010190 Pancreatic Neoplasms Sulindac 3.3311504793 16820089
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.427296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1912520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.416228378
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 4.8310923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1612371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 15.9410548101
MESH:D011297 Prenatal Exposure Delayed Effects resveratrol 15.9416679765
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 15.9411118676 11399792 11896295 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.1420887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6317292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.6316740699
MESH:D011471 Prostatic Neoplasms resveratrol 2.6317675339 17718901 17636462 16731767 17804756 15767336
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011629 Puberty, Precocious bisphenol A 4.7210548101
MESH:D011649 Pulmonary Alveolar Proteinosis 27-hydroxycholesterol 6.3415466366
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0017365031 15814490 17322281 17975199
MESH:D051436 Renal Insufficiency, Chronic resveratrol 5.5316325855
MESH:D015427 Reperfusion Injury Capsaicin 10.8818460982 19211983
MESH:D015427 Reperfusion Injury pirinixic acid 10.8819058328
MESH:D015427 Reperfusion Injury resveratrol 10.8815827377 16317513 16314181 17058453 17520802
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7718990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.323692021
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 13.3110029692 19755658
MESH:D012878 Skin Neoplasms resveratrol 13.318985016 15837718
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 13.318532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 13.3116192470
MESH:D019082 Smith-Lemli-Opitz Syndrome 27-hydroxycholesterol 5.9611254748
OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE 27-hydroxycholesterol 6.3119812052
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
OMIM:601367 STROKE, ISCHEMIC resveratrol 4.4216321402
MESH:D019966 Substance-Related Disorders bisphenol A 3.9216684133 16045194
MESH:D013705 Temporomandibular Joint Disorders Capsaicin 5.6717997062
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8512697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.837505956 6582329 1399818 6587162 3712494
MESH:D014062 Tongue Neoplasms resveratrol 4.1516227395
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 4.888074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 4.8817053015
MESH:D014581 Urticaria Acetaminophen 2.9110982225
MESH:D002583 Uterine Cervical Neoplasms resveratrol 4.0417473185
MESH:D014591 Uterine Diseases bisphenol A 4.9514652134
MESH:D014594 Uterine Neoplasms resveratrol 9.7617044934
MESH:D014594 Uterine Neoplasms Sulindac 9.7618645019
MESH:D014605 Uveitis Cyclosporine 3.931336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5412125929
MESH:D018487 Ventricular Dysfunction, Left resveratrol 4.2417488730
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1915886252
MESH:D015430 Weight Gain Dietary Fats 3.6816723640
MESH:D014985 Xerophthalmia Cyclosporine 4.3917120751
Pathway ID Pathway Name
KEGG:04142 Lysosome
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31698
    • No data
    Releated disease ID Related disease Name
    PA445131Obesity
    PA445131Obesity
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA445118Niemann-Pick Diseases
    Releated drug ID Related drug Name
    PA142320763allopregnanolone
    Drug Bank Top

    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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