AutismKB 2.0

Annotation Detail for COL6A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL6A1 ( OPLL )
Gene Full Name: collagen, type VI, alpha 1
Band: 21q22.3
Quick LinksEntrez ID:1291; OMIM: 120220; Uniprot ID:CO6A1_HUMAN; ENSEMBL ID: ENSG00000142156; HGNC ID: 2211
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04974Protein digestion and absorption
hsa04512ECM-receptor interaction
hsa04510Focal adhesion
Pathway IDPathway Name
Axon guidance
Signaling by PDGF
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
P00031Inflammation mediated by chemokine and cytokine signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
skeletal hyperostosis
No data
Desease Name
Bethlem myopathy
Ullrich congenital muscular dystrophy
Ossification of the posterior longitudinal spinal ligaments
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of COL6A1 mRNAdecreases expression 18648102
C002202 4-oxoretinoic acid 4-oxoretinoic acid results in decreased expression of COL6A1 mRNAdecreases expression 15982314
C103303 alitretinoin alitretinoin results in decreased expression of COL6A1 mRNAdecreases expression 15982314
D013196 Dihydrotestosterone Dihydrotestosterone results in decreased expression of COL6A1 mRNAdecreases expression 17023530
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of COL6A1 mRNAincreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of COL6A1 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of COL6A1 mRNAincreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of COL6A1 mRNA]decreases reaction|increases expression 17942915
D004958 Estradiol Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of COL6A1 mRNA]decreases reaction|increases expression 16977382
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of COL6A1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL6A1 mRNAaffects cotreatment|increases expression 17942748
C051890 irinotecan irinotecan metabolite results in increased expression of COL6A1 mRNAincreases expression 15956246
C051890 irinotecan irinotecan results in increased expression of COL6A1 mRNAincreases expression 15956246
D008070 Lipopolysaccharides Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of COL6A1 mRNA]decreases reaction|increases expression 16977382
D008070 Lipopolysaccharides Lipopolysaccharides results in decreased expression of COL6A1 mRNAdecreases expression 12057914
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of COL6A1 mRNAincreases expression 16977382
C008493 methylselenic acid methylselenic acid results in increased expression of COL6A1 mRNAincreases expression 18548127
D017239 Paclitaxel Paclitaxel results in increased expression of COL6A1 mRNAincreases expression 19682730
D010672 Phenytoin Phenytoin results in increased expression of COL6A1 mRNAincreases expression 8224229
D011374 Progesterone Progesterone results in decreased expression of COL6A1 mRNAdecreases expression 18070364
D011794 Quercetin Quercetin results in increased expression of COL6A1 mRNAincreases expression 16455785
D015474 Isotretinoin Isotretinoin results in decreased expression of COL6A1 mRNAdecreases expression 15982314
D012645 Selenomethionine Selenomethionine affects the expression of COL6A1 mRNAaffects expression 17222674
C002979 selenomethylselenocysteine selenomethylselenocysteine results in increased expression of COL6A1 mRNAincreases expression 18514395
C021751 tanshinone tanshinone results in decreased expression of COL6A1 mRNAdecreases expression 15849732
C004648 testosterone enanthate testosterone enanthate affects the expression of COL6A1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL6A1 mRNAincreases expression 12377990
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL6A1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL6A1 mRNAincreases expression 16120747
D019772 Topotecan COL6A1 protein affects the susceptibility to Topotecanaffects response to substance 16217747
D014212 Tretinoin Tretinoin metabolite results in decreased expression of COL6A1 mRNAdecreases expression 15982314
D014212 Tretinoin Tretinoin results in decreased expression of COL6A1 mRNAdecreases expression 15982314
C025643 vinclozolin vinclozolin affects the expression of COL6A1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Isotretinoin 13.3718769834
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 13.373425630 6195326 10563481 9118846 9677735 8986270
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 13.3711752688 15322242 14514962
MESH:D000015 Abnormalities, Multiple Isotretinoin 4.8118769834
MESH:D017486 Acneiform Eruptions Isotretinoin 6.0916232082
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 11.3517505938
MESH:D000152 Acne Vulgaris Isotretinoin 11.3516185265 18769834
MESH:D055371 Acute Lung Injury Lipopolysaccharides 3.8511850527 18653653
MESH:D000230 Adenocarcinoma Estradiol 4.0511473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.0514692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.303712494
MESH:D000236 Adenoma Diethylnitrosamine 6.306695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 9.4119052882 19061943 16434500 17620307 17162532 18056438
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.4116835633
MESH:D000505 Alopecia Tretinoin 3.4615955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.7811748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.0717084956
MESH:D001008 Anxiety Disorders vinclozolin 3.4919015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.2811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 6.8215885639
MESH:D001169 Arthritis, Experimental Tretinoin 6.8216412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2216292516
MESH:D001249 Asthma Tretinoin 2.2916456186
MESH:D001260 Ataxia Telangiectasia Quercetin 4.7815336622
MESH:D050197 Atherosclerosis Phenytoin 3.8115136057
MESH:D001327 Autoimmune Diseases Quercetin 4.2219761891
MESH:D001471 Barrett Esophagus Tretinoin 4.2216935849
MESH:C535436 Bethlem myopathy marker/mechanism
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.8311289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.3612125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 8.3616206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.6415746008
MESH:D001859 Bone Neoplasms Paclitaxel 4.3915867366
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.1417868700
MESH:D001930 Brain Injuries Progesterone 4.0715665606 15380490 15845082
MESH:D001943 Breast Neoplasms alitretinoin 6.8216344269
MESH:D001943 Breast Neoplasms Diethylnitrosamine 6.8217474063
MESH:D001943 Breast Neoplasms Estradiol 6.8212948864 19861407 17289903 16675129 14630087 17261762 18497071 17018787
MESH:D001943 Breast Neoplasms Paclitaxel 6.8215136595 18323546 16244791 18223236 16273361 16115903 18234424 11325840
MESH:D001943 Breast Neoplasms Progesterone 6.8216175315 17614352 15562024
MESH:D001943 Breast Neoplasms Quercetin 6.8218628248
MESH:D001943 Breast Neoplasms selenomethylselenocysteine 6.8218855134
MESH:D001943 Breast Neoplasms tanshinone 6.8219885617 15849732
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 6.8220435547
MESH:D001943 Breast Neoplasms Tretinoin 6.8216873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.4016813970
MESH:D002105 Cadmium Poisoning Quercetin 5.3516962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.2716111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.6516835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 4.9716168501
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 10.983581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 10.9819418558 16540662 18665156 16698587 19335982 18978308 16681979 20514400 18393292 16328049 20524982 20727157 20084675 16830150 18210153 16502159 18785209 17173139 20101231 16288022 18056438 18788625 16807293 19701751 17428255 19919837 20007298 18506893 3581430 19208518 11831363 20214788 18494052 17055752 19519916 3084413 20432363 16935385 19394651 16569478 10737359 17978847 17761372 19539802 19052882 10672840 20512989 17138121 17162532 19171122 18691550 16878318 21159647 16779866 19383236 19822196 19107877 18971187 20935162
MESH:D006528 Carcinoma, Hepatocellular Estradiol 10.9816924424
MESH:D006528 Carcinoma, Hepatocellular Paclitaxel 10.9816313753
MESH:D006528 Carcinoma, Hepatocellular Quercetin 10.9819519916 12508355
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 10.981917145
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 4.7717234771
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.597296757
MESH:D002294 Carcinoma, Squamous Cell Isotretinoin 4.8811237771
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.8816096774 16051514
MESH:D006332 Cardiomegaly Quercetin 6.4519794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.4518670907 18850075 16120746
MESH:D002386 Cataract Tretinoin 2.9817460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 14.947505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 14.9412371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 14.9417174075 2727394 7505956 21159647
MESH:D002471 Cell Transformation, Neoplastic Estradiol 14.9418566989
MESH:D002493 Central Nervous System Diseases Phenytoin 5.114080065
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.4016129372
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 8.7919052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 8.7916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 12.5719486331 9022650
MESH:D002779 Cholestasis Cyclosporine 12.5719486331
MESH:D002779 Cholestasis Ethinyl Estradiol 12.5717333356 15861022 17110522 11677210 17681005 16105132 16919318
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 5.6811748493
MESH:D002822 Choriocarcinoma Tretinoin 4.9716461808
MESH:D002971 Cleft Lip Phenytoin 4.062227380
MESH:D002972 Cleft Palate Phenytoin 9.4610789828 2227380 1687470 6856622 3877104 6862529
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 9.4615340226 8697196 15668235 12621046 16354765
MESH:D002972 Cleft Palate Tretinoin 9.469407595
MESH:D003092 Colitis Tretinoin 3.5217035595
MESH:D003103 Coloboma Phenytoin 4.989212184
MESH:D003110 Colonic Neoplasms irinotecan 3.9117725105 17287894
MESH:D003110 Colonic Neoplasms Quercetin 3.9117191121 19440933 19056647 17148506 15741050 11134977 16640504
MESH:D015179 Colorectal Neoplasms irinotecan 3.5117454858 16391804 15273666 18259882 16303861 18509181 17159606
MESH:D015179 Colorectal Neoplasms Paclitaxel 3.5118802399
MESH:D015179 Colorectal Neoplasms Quercetin 3.5118852136 18095365
MESH:D000013 Congenital Abnormalities Phenytoin 8.8510627286
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 8.8514669216 17141729
MESH:D019465 Craniofacial Abnormalities Isotretinoin 5.329879862 18769834
MESH:D019465 Craniofacial Abnormalities Phenytoin 5.3219952982 8986270 9212184
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.3210048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 5.3216925845 8800419 10589399 14991402 17551590 9125849 9211117 9142499 9224671 9664655
MESH:D003456 Cryptorchidism vinclozolin 4.1614966744
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.6211906362 18759878 12868966 2524372 8156756 11298694 8970840 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.313621924 2952479
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.5819496084
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.0620387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.0617107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.2519279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.3017187935
OMIM:607208 DRAVET SYNDROME Phenytoin 5.2011748493
MESH:D003875 Drug Eruptions Phenytoin 5.3115024534
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 5.8418289764 7440962 18692083 6482804 6679447 11289319 9328219 8291058 18648102 1440618 9653073 9022650 16192314
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 5.8419107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 5.8420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.2111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 11.3016714409 15322242 18230668
MESH:D004489 Edema, Cardiac Tretinoin 11.3018230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 14.4112538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 14.4117654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 14.4117692515
MESH:D016889 Endometrial Neoplasms Estradiol 7.0011473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Tretinoin 7.0016569247
MESH:D004715 Endometriosis Progesterone 8.3716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 8.3710568697 9294722
MESH:D019446 Endotoxemia Lipopolysaccharides 4.2015328337 15821434 17637181
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 5.0120235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.041399206 6251365
MESH:D004828 Epilepsies, Partial Phenytoin 4.7311558140 17116037
MESH:D004827 Epilepsy Phenytoin 3.8420417680 11434505 821787
MESH:D017029 Epilepsy, Complex Partial Phenytoin 5.117750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 4.873659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 4.9216302075
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.523581430
MESH:D004938 Esophageal Neoplasms Paclitaxel 4.5216481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 8.3711564622
MESH:D005124 Eye Abnormalities Tretinoin 8.3716938888 9664655
MESH:D005234 Fatty Liver Cyclosporine 12.0619224547
MESH:D005234 Fatty Liver Diethylnitrosamine 12.0620387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.0615345470
MESH:D005313 Fetal Death Phenytoin 10.1110627286
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 10.1111858732
MESH:D005334 Fever Lipopolysaccharides 3.859205823 11852909
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.836705139
MESH:D005355 Fibrosis Cyclosporine 19.5912168785 12639820
MESH:D005355 Fibrosis Quercetin 19.5919474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 19.5920067830
MESH:D005355 Fibrosis Tretinoin 19.5917994277
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.7416973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.1116417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 12.278708960
MESH:D005885 Gingival Hyperplasia Phenytoin 12.279029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.0414659971 16390469
MESH:D005909 Glioblastoma Quercetin 6.8519804834
MESH:D005909 Glioblastoma Tretinoin 6.8517312396
MESH:D005910 Glioma Quercetin 6.3617643826
MESH:D005910 Glioma tanshinone 6.3616955220
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.867505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4010696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.0616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 4.9716084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.2010048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 6.209664655 14991402
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.2315720958
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.2216366002
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.1611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.336705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.7112621046 16120746 15340226
MESH:D006558 Herpes Genitalis Estradiol 4.8415709030
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.5517440010
MESH:D019584 Hot Flashes Estradiol 3.5617088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.8515340226 16354765 18606429 8697196 16959395
MESH:D006930 Hyperalgesia Tretinoin 3.0616870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.3816778211
MESH:D006943 Hyperglycemia Quercetin 3.8611834736 18262572
MESH:D020138 Hyperhomocysteinemia Phenytoin 4.5110459572
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.7515034207
MESH:D006973 Hypertension Cyclosporine 8.1510903974
MESH:D006973 Hypertension Quercetin 8.1518356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.1518850075 18670907
MESH:D017379 Hypertrophy, Left Ventricular tanshinone 5.0719662366
MESH:D007021 Hypospadias Ethinyl Estradiol 3.6216569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.2115869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.2812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.2417937319
MESH:D007248 Infertility, Male vinclozolin 6.2416467254
MESH:D007249 Inflammation Diethylnitrosamine 11.1618785209
MESH:D007249 Inflammation Lipopolysaccharides 11.1617237260 12878042 17963957 9205823 17255318
MESH:D007249 Inflammation Progesterone 11.1615869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.1612878042 12200463
MESH:D007251 Influenza, Human Quercetin 4.3216624496
MESH:D007333 Insulin Resistance Estradiol 2.8416393666 16627594
MESH:D007410 Intestinal Diseases Tretinoin 3.5817994277
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.4517255318
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.839022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 9.3616580747
MESH:D007569 Jaw Abnormalities Tretinoin 9.3615992940 17551590
MESH:D007627 Keloid Quercetin 4.7717086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.2515604871
MESH:D017492 Keratosis, Seborrheic alitretinoin 5.4516144296
MESH:D007674 Kidney Diseases Cyclosporine 9.4610903974 18776723 8314463
MESH:D007674 Kidney Diseases Estradiol 9.4615618244
MESH:D007674 Kidney Diseases Quercetin 9.4616962696
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 11.476582329
MESH:D007680 Kidney Neoplasms Cyclosporine 11.4712371664
MESH:D007680 Kidney Neoplasms Estradiol 11.4715610895
MESH:D007938 Leukemia Quercetin 6.1517468513
MESH:D007938 Leukemia Tretinoin 6.1517143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.5319285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0516294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.0316823087 16788101 16891316 19029980 17217047 12679006 17649720 19075265 19642359 17506722 9834237 19225113 17294898 15748426 19035177 16331271 17339181 17368321 17361223 16140955 17107899 17301526 17712046 16935935 16766008
MESH:D007970 Leukopenia Lipopolysaccharides 4.5115821434
MESH:D007984 Leydig Cell Tumor vinclozolin 4.5416417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.179224671
MESH:D008080 Liposarcoma Paclitaxel 4.6417353645
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.7218522880 18407596 18665156 20032147 19638242
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.089327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.4814716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 6.4812878042
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 6.4812741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.4812878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 6.4818397230 16248980
MESH:D008107 Liver Diseases Diethylnitrosamine 4.3217034775
MESH:D008107 Liver Diseases Phenytoin 4.3214986274
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.0320137499 2422723 15175105 19073162 19638242 19427195 19254457 19551842 18977376 19812893 19499222 21047994 19426721 20434301 21278145 16942905 20101389 20492335 18644402 20501860 12112319 19256749 18648771 10737359 19690152 18754104 12771043 18978307 21071580 19850985 19642983 15885732 19255062 20118626 19996281 19090486 21167192 9163691 19294768 20452335 20583210 19833225 2862719 20405173
MESH:D008113 Liver Neoplasms Quercetin 7.0318980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.0316984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 13.156587162 3712494 598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 13.1519126423 16267830 2563599 19009564 17854601 18775883 21159647 19539802 18093689 18308698 18164116 16842330 19004024 19519916 17942915 9362446 17174075 18282651 18079962 3124819 18253720 18544905
MESH:D008114 Liver Neoplasms, Experimental Quercetin 13.1519519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 13.1512151625
MESH:D055370 Lung Injury Lipopolysaccharides 3.8221114838
MESH:D008175 Lung Neoplasms alitretinoin 6.3716413115
MESH:D008175 Lung Neoplasms Diethylnitrosamine 6.3720512841 20970405 21163286 6695378
MESH:D008175 Lung Neoplasms Isotretinoin 6.3715899809
MESH:D008175 Lung Neoplasms Quercetin 6.3716280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.3719555203 11884234
MESH:D008228 Lymphoma, Non-Hodgkin Paclitaxel 3.9314749477
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 9.4816891317 11807958 11408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 9.4817203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental selenomethylselenocysteine 9.4815318939
MESH:D020149 Manganese Poisoning Estradiol 4.2919453300
MESH:D008527 Medulloblastoma Tretinoin 2.7117453147
MESH:D008545 Melanoma Isotretinoin 5.1317237267
MESH:D008545 Melanoma Paclitaxel 5.1316342250 12025231 12040289
MESH:D008545 Melanoma Tretinoin 5.1316752155
MESH:D008591 Meningomyelocele Tretinoin 4.2416940565
MESH:D008607 Mental Retardation Phenytoin 3.619212184
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.5916801185
MESH:D052016 Mucositis irinotecan 4.8217159606
MESH:D009101 Multiple Myeloma Paclitaxel 3.5514749477
MESH:D009190 Myelodysplastic Syndromes Tretinoin 2.9717596541
MESH:D009203 Myocardial Infarction Quercetin 2.9119595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.8712213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.0816810080
MESH:D015428 Myocardial Reperfusion Injury Quercetin 8.0819207477
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 5.3317484760
MESH:D009224 Myotonia Congenita Phenytoin 5.221896199
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 13.003581430
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 13.009029167 3581430
MESH:D009362 Neoplasm Metastasis irinotecan 13.0018259882
MESH:D009362 Neoplasm Metastasis Paclitaxel 13.0015867366
MESH:D009369 Neoplasms alitretinoin 7.9016946489
MESH:D009369 Neoplasms Quercetin 7.9015185748
MESH:D009369 Neoplasms Tretinoin 7.9016946489 16594593
MESH:D009389 Neovascularization, Pathologic Estradiol 3.5417289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.2517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.1219348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 15.2616427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 15.2614600291
MESH:D009421 Nervous System Malformations Tretinoin 15.269125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 11.556679447
MESH:D009436 Neural Tube Defects Phenytoin 11.559118846
MESH:D009436 Neural Tube Defects Tretinoin 11.559142499
MESH:D009447 Neuroblastoma irinotecan 11.138761367
MESH:D009447 Neuroblastoma Isotretinoin 11.1317368321
MESH:D009447 Neuroblastoma Topotecan 11.1315176712
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.1920387270
MESH:D017599 Neuroectodermal Tumors irinotecan 4.548761367
MESH:D020078 Neurogenic Inflammation Quercetin 4.1817929310
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 4.9220387270
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.256482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.833988306
MESH:D017887 Ossification of Posterior Longitudinal Ligament marker/mechanism
MESH:D010014 Osteolysis Paclitaxel 4.7915867366
MESH:D010018 Osteomalacia Phenytoin 5.2217016548
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.0419495926
MESH:D010051 Ovarian Neoplasms Estradiol 14.3419401270
MESH:D010051 Ovarian Neoplasms Paclitaxel 14.3411161223
MESH:D010051 Ovarian Neoplasms Progesterone 14.3416525653 17393432
MESH:D010051 Ovarian Neoplasms Quercetin 14.3419005980
MESH:D010051 Ovarian Neoplasms Tretinoin 14.3416936753
MESH:D010146 Pain Phenytoin 6.6615215642
MESH:D010146 Pain Tretinoin 6.6616870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 8.2616540662
MESH:D010190 Pancreatic Neoplasms Quercetin 8.2616965848
MESH:D010190 Pancreatic Neoplasms Tretinoin 8.2615976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.5111578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.307296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.0612520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.286228378
MESH:D011014 Pneumonia Lipopolysaccharides 4.3612224865 11605937
MESH:D017689 Polydactyly Phenytoin 4.889212184
MESH:D017499 Porokeratosis alitretinoin 5.8116144296
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.3718163543
MESH:D011230 Precancerous Conditions Cyclosporine 14.3912371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 14.392563599
MESH:D011230 Precancerous Conditions Quercetin 14.3919056647
MESH:D011297 Prenatal Exposure Delayed Effects Isotretinoin 15.2618769834
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 15.2611896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 15.2618042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 4.7418220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7120887781
MESH:D011471 Prostatic Neoplasms Estradiol 2.1816740699
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.1816205645
MESH:D011471 Prostatic Neoplasms Paclitaxel 2.1817136230 17172428 16729912 16356831
MESH:D011471 Prostatic Neoplasms Quercetin 2.1814715546 17292933
MESH:D011472 Prostatitis vinclozolin 4.7418629315
MESH:D011507 Proteinuria Tretinoin 3.4316636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.1216919318 15861022
MESH:D019310 Pseudolymphoma Phenytoin 5.351419762 12752131 8603615
MESH:D011565 Psoriasis Cyclosporine 2.1616882103
MESH:D011596 Psychomotor Disorders Isotretinoin 5.7318769834
MESH:D011625 Pterygium Tretinoin 4.6016723453
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.6110835634
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.6518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.233692021
MESH:D012208 Rhabdomyosarcoma Tretinoin 3.9216283617 16116481
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.7918045962
MESH:D012554 Schistosomiasis japonica Quercetin 5.3516862918
MESH:D012640 Seizures Phenytoin 3.6110029267 15946322 9844417 3691417 19919933 11044598 16876388 3137016
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 8.918532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 8.9116192470
MESH:D012878 Skin Neoplasms Tretinoin 8.9116467112
MESH:D013088 Spermatocele Ethinyl Estradiol 3.7516709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.0915862959 16503802
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 4.9720235791
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 4.6118456281
MESH:D013274 Stomach Neoplasms irinotecan 4.6115723263
MESH:D013274 Stomach Neoplasms Paclitaxel 4.6118506536 18396642
MESH:D013274 Stomach Neoplasms Tretinoin 4.6117261132
MESH:D024801 Tauopathies Paclitaxel 4.6216930453
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.0015821434
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.4411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 2.9915669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.7112697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 11.116582329 7505956 3712494 1399818 6587162
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 11.117505956
MESH:D013964 Thyroid Neoplasms Tretinoin 11.1117045167 16026305
MESH:D013978 Tibial Fractures Estradiol 4.4919048282
MESH:D014062 Tongue Neoplasms Tretinoin 3.6216051514
MESH:D014376 Tuberculosis Tretinoin 3.1116040207
OMIM:254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY marker/mechanism
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 4.958074119
MESH:D001749 Urinary Bladder Neoplasms Quercetin 4.9516720314
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.5116129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.1214692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.4216752155
MESH:D014605 Uveitis Cyclosporine 3.791336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4012125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.3714671159 15869587
MESH:D014820 Vitiligo Tretinoin 3.8716761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.0615886252
MESH:D009396 Wilms Tumor Tretinoin 3.8116287080
MESH:D014985 Xerophthalmia Cyclosporine 4.2517120751
Pathway ID Pathway Name
REACT:18266 Axon guidance
KEGG:04512 ECM-receptor interaction
KEGG:04510 Focal adhesion
KEGG:04974 Protein digestion and absorption
REACT:16888 Signaling by PDGF
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved