AutismKB 2.0

Annotation Detail for PTCH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PTCH1 ( BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11 )
Gene Full Name: patched 1
Band: 9q22.32
Quick LinksEntrez ID:5727; OMIM: 601309; Uniprot ID:PTC1_HUMAN; ENSEMBL ID: ENSG00000185920; HGNC ID: 9585
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04340Hedgehog signaling pathway
hsa05217Basal cell carcinoma
hsa05200Pathways in cancer
Pathway IDPathway Name
Signaling by GPCR
Pathway IDPathway Name
200144Signaling events mediated by the Hedgehog family
200147Hedgehog signaling events mediated by Gli proteins
200193Glypican 3 network
Pathway IDPathway Name
P00025Hedgehog signaling pathway
Pathway IDPathway Name
500428Class B/2 (Secretin family receptors)
Related Diseases/Disorders Top
Desease IDDesease Name
Cancers
Skin cancers
H00039Basal cell carcinoma
No data
Desease Name
nevoid basal cell carcinoma syndrome associated
CARDIOVASCULAR
height
skin cancer, non-melanoma
CANCER
proximal chromosome 9p to q and distal chromosome 9q
breast cancer
pulmonary function
DEVELOPMENTAL
Desease Name
Height
Pulmonary function
Plasma chemerin levels
Desease Name
Basal cell nevus syndrome
Basal cell carcinoma, somatic
Holoprosencephaly-7
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PTCH1 mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PTCH1 mRNAaffects expression 16483693
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 PTCH1 mRNAdecreases expression 19150397
C014347 decitabine [[decitabine affects the methylation of HHIP promoter] which affects the expression of HHIP protein] which affects the expression of PTCH1 mRNAaffects expression|affects methylation 18559595
C014347 decitabine [decitabine co-treated with Valproic Acid] results in increased expression of PTCH1 mRNAaffects cotreatment|increases expression 19155313
C014347 decitabine decitabine results in decreased methylation of PTCH1 promoterdecreases methylation 19155313
D004958 Estradiol Estradiol results in decreased expression of PTCH1 mRNAdecreases expression 15328011
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PTCH1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PTCH1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of PTCH1 mRNAaffects cotreatment|decreases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of PTCH1 mRNAdecreases expression 17109907
D004997 Ethinyl Estradiol fulvestrant inhibits the reaction [Ethinyl Estradiol results in decreased expression of PTCH1 mRNA]decreases expression|decreases reaction 17109907
D005419 Flavonoids Flavonoids results in decreased expression of PTCH1 mRNAdecreases expression 18035473
D005472 Fluorouracil Fluorouracil affects the localization of PTCH1 proteinaffects localization 18776995
D005472 Fluorouracil [Fluorouracil co-treated with irinotecan] results in increased expression of PTCH1 mRNAaffects cotreatment|increases expression 16391804
D005472 Fluorouracil Fluorouracil results in decreased expression of PTCH1 mRNAdecreases expression 18776995
D005472 Fluorouracil Fluorouracil results in decreased expression of PTCH1 proteindecreases expression 18776995
D005472 Fluorouracil GLI1 protein inhibits the reaction [Fluorouracil affects the localization of PTCH1 protein]affects localization|decreases reaction 18776995
C070081 fulvestrant fulvestrant inhibits the reaction [Ethinyl Estradiol results in decreased expression of PTCH1 mRNA]decreases expression|decreases reaction 17109907
C051890 irinotecan [Fluorouracil co-treated with irinotecan] results in increased expression of PTCH1 mRNAaffects cotreatment|increases expression 16391804
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of PTCH1 mRNAincreases expression 12057914
D010672 Phenytoin Phenytoin results in increased expression of PTCH1 mRNAincreases expression 16141649
C006253 pirinixic acid pirinixic acid results in decreased expression of PTCH1 mRNAdecreases expression 18445702
D010936 Plant Extracts Plant Extracts affects the expression of PTCH1 mRNAaffects expression 12878215
C025299 polyphenols polyphenols results in decreased expression of PTCH1 mRNAdecreases expression 16293270
C467746 propyl pyrazole triol propyl pyrazole triol results in decreased expression of PTCH1 mRNAdecreases expression 17109907
D013629 Tamoxifen Tamoxifen affects the expression of PTCH1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of PTCH1 mRNAaffects cotreatment|decreases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PTCH1 mRNAdecreases expression 17337447
18796159
D014212 Tretinoin Tretinoin results in decreased expression of PTCH1 mRNAdecreases expression 9224671
D014212 Tretinoin [Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of PTCH1 mRNAaffects cotreatment|increases expression 17085092
D014635 Valproic Acid Valproic Acid results in increased expression of PTCH1 mRNAincreases expression 19101580
D014635 Valproic Acid [decitabine co-treated with Valproic Acid] results in increased expression of PTCH1 mRNAaffects cotreatment|increases expression 19155313
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4714745880
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 13.856195326 8986270 9677735 9118846 3425630 10563481
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 13.8515322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 13.858875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.8419490988
MESH:D000138 Acidosis Ammonium Chloride 3.4718287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.8617505938
MESH:D055371 Acute Lung Injury Lipopolysaccharides 8.7618653653 11850527
MESH:D055371 Acute Lung Injury pirinixic acid 8.7618653653
MESH:D000230 Adenocarcinoma Estradiol 6.9311473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 6.9314692618
MESH:D000230 Adenocarcinoma Fluorouracil 6.9317638652
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.703712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.6216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.6216835633
MESH:D000505 Alopecia Tretinoin 3.5415955085
MESH:D000544 Alzheimer Disease Plant Extracts 3.0016962711
MESH:D000550 Amblyopia Valproic Acid 5.1517688650
MESH:D000740 Anemia Fluorouracil 8.4216511603 17963324 15504547
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.4211748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.5017497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.3811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 12.0215885639
MESH:D001169 Arthritis, Experimental Plant Extracts 12.0214686799
MESH:D001169 Arthritis, Experimental Tretinoin 12.0216412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2416292516
MESH:D001249 Asthma Tretinoin 2.3216456186
MESH:D050197 Atherosclerosis Phenytoin 3.8715136057
MESH:D001284 Atrophy fulvestrant 4.7611514358
MESH:D001321 Autistic Disorder Valproic Acid 2.0120603192 18316065 15238991 18177632 17507914 17688650 19460635 18775368 18558336 16609825 19232924 17157402 18396377 18940202 18985861
MESH:D001471 Barrett Esophagus Tretinoin 4.3216935849
MESH:D001478 Basal Cell Nevus Syndrome marker/mechanism 16936257 18539553 16405370
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.941440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.0320046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 14.7919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 14.7912125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 14.7916206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 7.8315746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 7.838888407
MESH:D002545 Brain Ischemia Plant Extracts 4.6416041641
MESH:D001943 Breast Neoplasms decitabine 3.7219208741 18320071
MESH:D001943 Breast Neoplasms Estradiol 3.7217289903 14630087 12948864 17018787 16675129 17261762 18497071 19861407
MESH:D001943 Breast Neoplasms Fluorouracil 3.7219217205 16110121 18608205 16595493 16557594 18357371 15136595
MESH:D001943 Breast Neoplasms fulvestrant 3.7218984771
MESH:D001943 Breast Neoplasms Tamoxifen 3.7219288272 17440819 17893378 16873071 19189212 20005174 19410462 19059307 18815881 16818667 21138602 20135344 18351453 18984771 15668708 21152245 19487384 11161223 18855134 19200415 19011961 19155303 17049068 19244106 19115204 18821012 15565566 17261762 19221464 19103187 19084267 17242785 19189210 20859285 20544844 16273361 19142967 20065188 16202921 19289846 19066611 18997820 18425577 20390343 18629630
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.7220435547
MESH:D001943 Breast Neoplasms Tretinoin 3.7216166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.5016813970
MESH:D002057 Burns, Chemical Plant Extracts 5.259625245
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3816111702
MESH:D002276 Carcinoid Tumor Fluorouracil 4.5916051944
MESH:D002277 Carcinoma Fluorouracil 7.9517121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 7.9516835633
MESH:D002280 Carcinoma, Basal Cell marker/mechanism
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4219066611
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.0816168501
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 11.227296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Estradiol 11.2216924424
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 11.2217971768 17045692 17088986 16332177 18930000 16799960
MESH:D006528 Carcinoma, Hepatocellular Plant Extracts 11.2218834353
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 11.2216924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 11.221917145
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 6.367296757
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 6.3618695887
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.4519215824
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 7.4516280240 16757204 17066447 18986760
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 7.4516096774 16051514
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.5317572228
MESH:D006332 Cardiomegaly Plant Extracts 6.8217645561
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.8218670907 16120746 18850075
MESH:D002386 Cataract Tretinoin 3.0417460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 10.817505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 10.8120889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 10.8118566989
MESH:D002493 Central Nervous System Diseases Phenytoin 5.214080065
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.5016129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.6820734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 12.9919486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 12.9916105132 11677210 17681005 15861022 16919318 17333356 17110522
MESH:D002779 Cholestasis pirinixic acid 12.9919176532
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 5.7811748493
MESH:D002822 Choriocarcinoma Tretinoin 5.0816461808
MESH:D002971 Cleft Lip marker/mechanism 16405370
MESH:D002971 Cleft Lip Phenytoin 4.112227380
MESH:D002972 Cleft Palate marker/mechanism 16405370
MESH:D002972 Cleft Palate Phenytoin 9.712227380 3877104 6856622 10789828 6862529 1687470
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 9.7112621046 15340226 15668235 8697196 16354765
MESH:D002972 Cleft Palate Tretinoin 9.719407595
MESH:D003092 Colitis Tretinoin 3.6217035595
MESH:D003103 Coloboma Phenytoin 5.079212184
MESH:D003110 Colonic Neoplasms decitabine 8.2417616700
MESH:D003110 Colonic Neoplasms Fluorouracil 8.2417725105 18772588 15001691 17016597 16510598 17169374 16340194 17287894 17172411 17018589
MESH:D003110 Colonic Neoplasms irinotecan 8.2417725105 17287894
MESH:D003110 Colonic Neoplasms polyphenols 8.2416293270
MESH:D015179 Colorectal Neoplasms decitabine 3.5018981723
MESH:D015179 Colorectal Neoplasms Fluorouracil 3.5020501625 17016601 16524972 18288408 16282729 15289873 17255274 18949393 17401013 18448328 17454858 17594712 18383874 18802399 17695437 16391804 15148649 16331619 16303861 14970324 17094418 18509181
MESH:D015179 Colorectal Neoplasms irinotecan 3.5015273666 17159606 17454858 16303861 18259882 18509181 16391804
MESH:D000013 Congenital Abnormalities Phenytoin 9.1310627286
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities marker/mechanism 18539553 16405370
MESH:D019465 Craniofacial Abnormalities Phenytoin 5.378986270 19952982 9212184
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.3715322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 5.3710589399 9142499 17551590 9664655 16925845 9125849 9211117 14991402 9224671 8800419
MESH:D019465 Craniofacial Abnormalities Valproic Acid 5.3716575769 17688650 8888407
MESH:D007644 Darier Disease Fluorouracil 4.7116733453
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2819031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.728970840 11906362 12868966 2524372 11298694 14531868 8156756 18759878
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.413621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6517107852
MESH:D003928 Diabetic Nephropathies Estradiol 14.6419279558
MESH:D003928 Diabetic Nephropathies Plant Extracts 14.6419706694
MESH:D003928 Diabetic Nephropathies Tamoxifen 14.6419279558
OMIM:607208 DRAVET SYNDROME Phenytoin 5.3011748493
MESH:D003875 Drug Eruptions Phenytoin 5.4115024534
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 8.796482804 18289764 1440618 9022650 7440962 18692083 9653073 8291058 16192314 9328219 11289319 18648102 6679447
MESH:D056486 Drug-Induced Liver Injury polyphenols 8.7919370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 8.7920420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 8.7919641884 1733752
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6911462148
MESH:D004421 Dystonia Valproic Acid 3.961851702
MESH:D004487 Edema pirinixic acid 11.0212083418
MESH:D004487 Edema Plant Extracts 11.0212787963
MESH:D004487 Edema Tetrachlorodibenzodioxin 11.0211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 11.6716714409 15322242 18230668
MESH:D004489 Edema, Cardiac Tretinoin 11.6718230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 14.9512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 14.9517654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 14.9519031437
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.0319294695
MESH:D016889 Endometrial Neoplasms Estradiol 12.0911473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Tamoxifen 12.0919155303 20544844 17893378 16202921
MESH:D016889 Endometrial Neoplasms Tretinoin 12.0916569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.949294722 10568697
MESH:D004719 Endomyocardial Fibrosis Plant Extracts 5.6015268973
MESH:D019446 Endotoxemia Lipopolysaccharides 4.3115328337 15821434 17637181
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 5.1120235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.156251365 1399206
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.0717275665 3659116
MESH:D004828 Epilepsies, Partial Phenytoin 10.0917116037 11558140
MESH:D004828 Epilepsies, Partial Valproic Acid 10.0916628512 3922381
MESH:D004827 Epilepsy Phenytoin 11.0120417680 821787 11434505
MESH:D004827 Epilepsy Plant Extracts 11.0119700373 19439326
MESH:D004827 Epilepsy Valproic Acid 11.0120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.517562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Phenytoin 11.407750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 11.407750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 10.583659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 10.583659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.113581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1120426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.1116785472 16337965 17638652 15173087 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 8.6111564622
MESH:D005124 Eye Abnormalities Tretinoin 8.6116938888 9664655
MESH:D005234 Fatty Liver Ethinyl Estradiol 23.7915345470
MESH:D005234 Fatty Liver pirinixic acid 23.7920131406 19236843
MESH:D005234 Fatty Liver Plant Extracts 23.7915975614
MESH:D005234 Fatty Liver Tamoxifen 23.7914986274 19224547
MESH:D005234 Fatty Liver Valproic Acid 23.7914986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.1816709447
MESH:D005313 Fetal Death Phenytoin 10.4510627286
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 10.4511858732
MESH:D005315 Fetal Diseases Valproic Acid 4.8116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.048888407 18558336
MESH:D005334 Fever Lipopolysaccharides 3.9311852909 9205823
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.946705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4414745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.1019069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.3320067830
MESH:D005355 Fibrosis Tretinoin 8.3317994277
MESH:D005885 Gingival Hyperplasia Phenytoin 5.589029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.1514659971 16390469
MESH:D005909 Glioblastoma Tretinoin 2.9517312396
MESH:D005910 Glioma Fluorouracil 2.8316145905
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.957505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5110696789
MESH:D006258 Head and Neck Neoplasms decitabine 12.6319215824
MESH:D006258 Head and Neck Neoplasms Fluorouracil 12.6315102660 18337622 15162350
MESH:D006258 Head and Neck Neoplasms Tretinoin 12.6316096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.0816084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.3810048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 6.389664655 14991402
MESH:D006333 Heart Failure pirinixic acid 7.0620558911
MESH:D006333 Heart Failure Plant Extracts 7.0618097624
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.3016366002
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2511000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.436705139
MESH:D006529 Hepatomegaly pirinixic acid 7.9716221962 19176532 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 7.9716120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 4.9515709030
MESH:D006561 Herpes Simplex Plant Extracts 4.5410715843
MESH:D015658 HIV Infections marker/mechanism 12878215
MESH:D015658 HIV Infections Plant Extracts 3.6312878215
MESH:D016142 Holoprosencephaly marker/mechanism
MESH:D019584 Hot Flashes Estradiol 10.0617088409
MESH:D019584 Hot Flashes Plant Extracts 10.0617454163 16566672 14716179
MESH:D006849 Hydrocephalus Valproic Acid 4.7817688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9615340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Tretinoin 3.1416870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.4816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.1020558911
MESH:D020138 Hyperhomocysteinemia Phenytoin 9.5510459572
MESH:D020138 Hyperhomocysteinemia Plant Extracts 9.5516484555
MESH:D006949 Hyperlipidemias Plant Extracts 4.3915268973 15975614
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.8515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.8718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.3812013081
MESH:D007248 Infertility, Male decitabine 10.9917581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 10.9917937319
MESH:D007248 Infertility, Male fulvestrant 10.9911514358
MESH:D007249 Inflammation Flavonoids 19.4017296493
MESH:D007249 Inflammation Lipopolysaccharides 19.4017963957 17237260 9205823 12878042 17255318
MESH:D007249 Inflammation Plant Extracts 19.4012787963 16366677 19332304 15997105
MESH:D007249 Inflammation polyphenols 19.4016366677
MESH:D007249 Inflammation Tamoxifen 19.4019457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 19.4012200463 12878042
MESH:D007333 Insulin Resistance Estradiol 7.0016393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.0016306350
MESH:D007410 Intestinal Diseases Tretinoin 3.6817994277
MESH:D007414 Intestinal Neoplasms Plant Extracts 4.5412628509 12584176 12351151
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.5517255318
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.948074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 9.6616580747
MESH:D007569 Jaw Abnormalities Tretinoin 9.6615992940 17551590
MESH:D007674 Kidney Diseases Estradiol 2.5315618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 17.166582329
MESH:D007680 Kidney Neoplasms Estradiol 17.1615610895
MESH:D007680 Kidney Neoplasms Fluorouracil 17.1616985049
MESH:D007680 Kidney Neoplasms Tamoxifen 17.1618625569
MESH:D007938 Leukemia decitabine 6.2818980019 19235587
MESH:D007938 Leukemia Tretinoin 6.2817143497
MESH:D007951 Leukemia, Myeloid decitabine 9.2917236224 19117987 18454857
MESH:D007951 Leukemia, Myeloid Tretinoin 9.2919285840 16482212 16932348
MESH:D015470 Leukemia, Myeloid, Acute decitabine 6.0619010910 18460780 18704418 18206229 19387464 17679729
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 6.0617596541 19850784 16294345
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 6.0617596541 16294345
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.3818055864
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.0916331271 17339181 17368321 19075265 16935935 17649720 9834237 16891316 15748426 17361223 17712046 19642359 17301526 19225113 17217047 16788101 16766008 17107899 16140955 16823087 12679006 19029980 17506722 19035177 17294898
MESH:D007970 Leukopenia Lipopolysaccharides 4.6115821434
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.249224671
MESH:D008064 Lipidoses Tamoxifen 3.0917567588 15342952
MESH:D008103 Liver Cirrhosis Plant Extracts 3.6917157831
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.1415034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 10.7714716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 10.7712878042
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 10.7715474484
MESH:D008106 Liver Cirrhosis, Experimental Plant Extracts 10.7715479170
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 10.7718564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 10.7712878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 10.7716248980 18397230
MESH:D008107 Liver Diseases Phenytoin 6.7714986274
MESH:D008107 Liver Diseases Plant Extracts 6.7717034775
MESH:D008107 Liver Diseases polyphenols 6.7716698588
MESH:D008113 Liver Neoplasms Fluorouracil 13.9018383874 17045692 16603448 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 13.9015890375 16377806 20007298
MESH:D008113 Liver Neoplasms Plant Extracts 13.9019168119
MESH:D008113 Liver Neoplasms Tamoxifen 13.9016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 13.9016984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.55598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.5512151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.1817228818
MESH:D055370 Lung Injury Lipopolysaccharides 3.9221114838
MESH:D008175 Lung Neoplasms Fluorouracil 4.8015246190
MESH:D008175 Lung Neoplasms Plant Extracts 4.8020869020
MESH:D008175 Lung Neoplasms Tamoxifen 4.8018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8011884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.7115086387
MESH:D008223 Lymphoma decitabine 3.3519470736
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6719428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 5.7811408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 5.7819196722 14580682 16827153 11731420 19196723
MESH:D020149 Manganese Poisoning Estradiol 12.3819453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.3819453300
MESH:D008527 Medulloblastoma marker/mechanism 19155313 18347096 19213072
MESH:D008527 Medulloblastoma Tretinoin 2.7517453147
MESH:D008545 Melanoma decitabine 5.0316505122 17785578
MESH:D008545 Melanoma Tamoxifen 5.0319393235 12393984
MESH:D008545 Melanoma Tretinoin 5.0316752155
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1015990972
MESH:D008591 Meningomyelocele Tretinoin 4.3416940565
MESH:D008607 Mental Retardation Phenytoin 3.649212184
MESH:D008881 Migraine Disorders Valproic Acid 3.1318803445 18765137
MESH:D009062 Mouth Neoplasms Fluorouracil 3.5618986760 16757204
MESH:D052016 Mucositis irinotecan 4.9217159606
MESH:D009101 Multiple Myeloma decitabine 3.2818172295
MESH:D009135 Muscular Diseases pirinixic acid 3.4216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 3.948888407
MESH:D009190 Myelodysplastic Syndromes decitabine 12.0516882708 19157545 18608210 19010910
MESH:D009190 Myelodysplastic Syndromes Tretinoin 12.0517596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 12.0517596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9512213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.0216810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.0216411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 5.4417484760
MESH:D009224 Myotonia Congenita Phenytoin 5.321896199
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 9.343581430
MESH:D009362 Neoplasm Metastasis irinotecan 9.3418259882
MESH:D009362 Neoplasm Metastasis Tamoxifen 9.3419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4919410462
MESH:D009369 Neoplasms decitabine 11.5219470736 19116145 17925555
MESH:D009369 Neoplasms Fluorouracil 11.5216928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 11.5217405874
MESH:D009369 Neoplasms Tretinoin 11.5216594593 16946489
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.9219196722 19200415 19189210
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6517289903
MESH:D009421 Nervous System Malformations Estradiol 15.8316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 15.8314600291
MESH:D009421 Nervous System Malformations Tretinoin 15.839125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 16.906679447
MESH:D009436 Neural Tube Defects Phenytoin 16.909118846
MESH:D009436 Neural Tube Defects Tretinoin 16.909142499
MESH:D009436 Neural Tube Defects Valproic Acid 16.908888407 16359493
MESH:D019954 Neurobehavioral Manifestations Plant Extracts 5.1017168769
MESH:D009447 Neuroblastoma irinotecan 3.438761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.648761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.3816436463
MESH:D009765 Obesity pirinixic acid 4.6820558911
MESH:D009765 Obesity Plant Extracts 4.6820132043 19056576
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.346482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.943988306
MESH:D010018 Osteomalacia Phenytoin 5.3217016548
MESH:D010051 Ovarian Neoplasms decitabine 7.7419259094 19331143
MESH:D010051 Ovarian Neoplasms Estradiol 7.7419401270
MESH:D010051 Ovarian Neoplasms Tretinoin 7.7416936753
MESH:D010146 Pain Phenytoin 6.9315215642
MESH:D010146 Pain Tretinoin 6.9316870215
MESH:D010190 Pancreatic Neoplasms marker/mechanism 19077462
MESH:D010190 Pancreatic Neoplasms decitabine 8.5019294695
MESH:D010190 Pancreatic Neoplasms Fluorouracil 8.5019003803 15113037 16500647 16929163
MESH:D010190 Pancreatic Neoplasms Tretinoin 8.5015976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6011578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 9.187296757
MESH:D010212 Papilloma Plant Extracts 9.1816517061 15173996
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.396228378
MESH:D011014 Pneumonia Lipopolysaccharides 4.4711605937 12224865
MESH:D017689 Polydactyly Phenytoin 4.979212184
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.1811118676 11399792 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.1820603192
MESH:D055728 Primary Myelofibrosis decitabine 4.6417616702
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8020887781
MESH:D011471 Prostatic Neoplasms Estradiol 2.1316740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 2.1318626508 19082440
MESH:D011471 Prostatic Neoplasms Plant Extracts 2.1317804756 14666653
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.1315067354
MESH:D011507 Proteinuria Tretinoin 3.5216636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.2315861022 16919318
MESH:D019310 Pseudolymphoma Phenytoin 12.308603615 1419762 12752131
MESH:D019310 Pseudolymphoma Valproic Acid 12.3012752131 11422049
MESH:D011625 Pterygium Tretinoin 4.7116723453
MESH:D012004 Rectal Neoplasms Fluorouracil 3.9318286688 15538739 18722050 16160472
MESH:D015427 Reperfusion Injury pirinixic acid 2.3419058328
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.6710835634
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.313692021
MESH:D012208 Rhabdomyosarcoma marker/mechanism 19155313
MESH:D012208 Rhabdomyosarcoma decitabine 18.0319155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 18.0316283617 16116481
MESH:D012208 Rhabdomyosarcoma Valproic Acid 18.0319155313
MESH:D012559 Schizophrenia Valproic Acid 2.0615737665 19110320
MESH:D012640 Seizures Phenytoin 6.183691417 15946322 16876388 10029267 19919933 3137016 11044598 9844417
MESH:D012640 Seizures Valproic Acid 6.1811044598 16876388 14763951 15475178 1511512 11738929 3137016 17978042
MESH:D012878 Skin Neoplasms Plant Extracts 9.3016517061 15173996
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.3016192470
MESH:D012878 Skin Neoplasms Tretinoin 9.3016467112
MESH:D013088 Spermatocele Ethinyl Estradiol 11.2916709447
MESH:D013088 Spermatocele Tamoxifen 11.2916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 3.9519457130
MESH:D016135 Spinal Dysraphism Valproic Acid 3.7119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.4612833885
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 5.0720235791
MESH:D013274 Stomach Neoplasms decitabine 4.7019037991
MESH:D013274 Stomach Neoplasms Fluorouracil 4.7015786421 18396642 16951190 16424979 17172411 17498489 18567086 17522103 19084572 19015929
MESH:D013274 Stomach Neoplasms irinotecan 4.7015723263
MESH:D013274 Stomach Neoplasms Tretinoin 4.7017261132
MESH:D013276 Stomach Ulcer Plant Extracts 3.8118237397 17135157 18193104 12787963 15255614
MESH:D013705 Temporomandibular Joint Disorders Plant Extracts 13.0017997062
MESH:D013705 Temporomandibular Joint Disorders polyphenols 13.0017997062
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.0815821434
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.0715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 11.603712494 7505956 1399818 6587162 6582329
MESH:D013964 Thyroid Neoplasms decitabine 11.6017967635
MESH:D013964 Thyroid Neoplasms Tretinoin 11.6017045167 16026305
MESH:D013978 Tibial Fractures Estradiol 4.6019048282
MESH:D014062 Tongue Neoplasms Fluorouracil 9.5616280240
MESH:D014062 Tongue Neoplasms Tretinoin 9.5616051514
MESH:D014178 Translocation, Genetic Valproic Acid 5.1517262798
MESH:D014376 Tuberculosis Tretinoin 3.1716040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.443119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.158074119
MESH:D001749 Urinary Bladder Neoplasms decitabine 8.1517616700 19087683
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.158653321 16712894 17572228
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.568888407
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.1916803524
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 9.1916129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2114692618
MESH:D014604 Uveal Neoplasms decitabine 12.5617785578
MESH:D014604 Uveal Neoplasms Tretinoin 12.5616752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4615869587 14671159
MESH:D018487 Ventricular Dysfunction, Left Plant Extracts 4.6618097624
MESH:D020257 Ventricular Remodeling Plant Extracts 5.2318097624
MESH:D014820 Vitiligo Tretinoin 3.9716761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1715886252
MESH:D009396 Wilms Tumor Tretinoin 3.8916287080
MESH:D014947 Wounds and Injuries Plant Extracts 4.1819894650 20213670
Pathway ID Pathway Name
KEGG:05217 Basal cell carcinoma
KEGG:04340 Hedgehog signaling pathway
KEGG:05200 Pathways in cancer
REACT:14797 Signaling by GPCR
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162400269
    • Releated gene ID Related gene Name
    PA35968SMO
    Releated disease ID Related disease Name
    PA443557Brain Neoplasms
    PA444898Medulloblastoma
    PA445062Neoplasms
    No data
    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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