AutismKB 2.0

Annotation Detail for COL27A1


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Basic Information Top
Gene Symbol:COL27A1 ( FLJ11895,KIAA1870,MGC11337 )
Gene Full Name: collagen, type XXVII, alpha 1
Band: 9q32
Quick LinksEntrez ID:85301; OMIM: 608461; Uniprot ID:CORA1_HUMAN; ENSEMBL ID: ENSG00000196739; HGNC ID: 22986
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
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DEVELOPMENTAL
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of COL27A1 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of COL27A1 mRNAaffects expression 16483693
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of COL27A1 mRNAaffects cotreatment|increases expression 18164116
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of COL27A1 mRNAdecreases expression 20713471
D003474 Curcumin Curcumin results in increased expression of COL27A1 mRNAincreases expression 18299980
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of COL27A1 mRNAaffects cotreatment|increases expression 18164116
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of COL27A1 mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of COL27A1 mRNAdecreases expression 19482888
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of COL27A1 mRNAincreases expression 15644576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.446195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.4415322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0320127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 11.966695378
MESH:D000236 Adenoma beta-Naphthoflavone 11.9619389873
MESH:D000236 Adenoma Diethylnitrosamine 11.966695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 19.4219061943 19052882 17620307 18056438 16434500 17162532
MESH:D018248 Adenoma, Liver Cell Phenobarbital 19.4217620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.4216835633
MESH:D019973 Alcohol-Related Disorders Curcumin 5.4617887948
MESH:D000544 Alzheimer Disease Curcumin 2.6615590663
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.0320041841 18218290 18057881
MESH:D001172 Arthritis, Rheumatoid Curcumin 2.7816807698
MESH:D050197 Atherosclerosis Curcumin 3.4518704882
MESH:D001281 Atrial Fibrillation Amiodarone 4.0819698954 18651412
MESH:D001327 Autoimmune Diseases Curcumin 4.8019761891
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D002545 Brain Ischemia Curcumin 4.6716770732
MESH:D001932 Brain Neoplasms Curcumin 4.1617596214
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9720146248 17474063
MESH:D001943 Breast Neoplasms Curcumin 1.9718462866 19250217 18593918 16243823
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9717474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002277 Carcinoma Curcumin 8.9318593918
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.9316835633
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.143084413 16698587 16569478 18056438 19822196 18971187 19701751 20432363 16502159 20935162 20214788 16830150 19539802 17428255 18210153 16540662 16288022 16807293 17761372 19418558 20524982 16681979 20007298 10737359 16779866 18691550 17138121 18785209 16328049 18665156 19208518 20084675 19052882 3581430 19171122 19394651 20727157 19335982 21159647 19519916 16935385 19107877 11831363 19383236 17978847 18788625 17173139 17055752 18393292 20512989 18506893 20101231 19919837 16878318 10672840 17162532 18494052 20514400 18978308
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.1417173139 1701930 20007298 20935162 6705139
MESH:D002289 Carcinoma, Non-Small-Cell Lung Curcumin 3.0418414057
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9420419170
MESH:D002294 Carcinoma, Squamous Cell Curcumin 4.9418462866
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9615710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.4218974383
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.0117174075 2727394 7505956 21159647
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.564080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.0519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.0516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1912621046 8697196 15668235 15340226 16354765
MESH:D003092 Colitis Curcumin 4.4816804969 16782535 18200517
MESH:D003103 Coloboma Curcumin 4.7918809619
MESH:D003110 Colonic Neoplasms Curcumin 2.5319359593 16340194
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D016510 Corneal Neovascularization Curcumin 5.2018497527
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Curcumin 7.4318403477
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 7.4320387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 7.4317107852
MESH:D003928 Diabetic Nephropathies Curcumin 4.2218204486
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.5918218290 15265979
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.5919107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004381 Duodenal Ulcer Curcumin 4.3317351913
MESH:D004421 Dystonia Phenobarbital 4.261851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.413659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.253922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.766401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.363659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Amiodarone 14.7214986274
MESH:D005234 Fatty Liver Curcumin 14.7219297423
MESH:D005234 Fatty Liver Diethylnitrosamine 14.7220387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Curcumin 9.8318705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8320067830
MESH:D005770 Gastrointestinal Neoplasms Curcumin 5.0018462866
MESH:D005909 Glioblastoma Curcumin 3.6217596214
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Curcumin 3.8118829502 18462866
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8211294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Amiodarone 16.3515265979
MESH:D006529 Hepatomegaly Phenobarbital 16.3516109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.3516120746 15340226 12621046
MESH:D015417 Hereditary Sensory and Motor Neuropathy Curcumin 5.3517701891
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216354765 8697196 18606429 15340226 16959395
MESH:D006937 Hypercholesterolemia Amiodarone 10.169751232 8137927
MESH:D006937 Hypercholesterolemia Curcumin 10.1618704882
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007037 Hypothyroidism Amiodarone 4.8217991464 18020914
MESH:D007249 Inflammation Curcumin 9.0118403477 17151092 16956363
MESH:D007249 Inflammation Diethylnitrosamine 9.0118785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 9.0112878042 12200463
MESH:D015212 Inflammatory Bowel Diseases Curcumin 3.2918596194 18200517
MESH:D007414 Intestinal Neoplasms Curcumin 4.4510783313
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007889 Leiomyoma Curcumin 4.8318555241
MESH:D007938 Leukemia Curcumin 3.3418462866
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Curcumin 4.4516106398
MESH:D015458 Leukemia, T-Cell Curcumin 5.0416106398
MESH:D008064 Lipidoses Amiodarone 3.6815342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.0418522880 20032147 18665156 18407596 19638242
MESH:D008103 Liver Cirrhosis Phenobarbital 7.0421047994
MESH:D008106 Liver Cirrhosis, Experimental Curcumin 2.5418705752 17355460 18006644
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5412878042
MESH:D008107 Liver Diseases Curcumin 6.9316956363
MESH:D008107 Liver Diseases Diethylnitrosamine 6.9317034775
MESH:D008107 Liver Diseases Phenobarbital 6.9319363144
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 15.1021137059 20195826
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 15.1019389873 21295105
MESH:D008113 Liver Neoplasms Diethylnitrosamine 15.1019638242 20405173 18754104 10737359 21278145 20492335 19499222 19090486 20101389 20583210 20452335 2422723 19254457 20501860 12112319 19427195 18977376 19256749 12771043 19996281 18644402 9163691 20137499 19255062 18648771 19833225 16942905 19551842 19426721 19642983 19812893 21071580 15175105 2862719 19294768 21047994 19073162 20118626 19690152 18978307 19850985 15885732 21167192 20434301
MESH:D008113 Liver Neoplasms Phenobarbital 15.1019073162 21047994 15975961 19812893 8742319 19482888
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 15.1016984957
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 15.3318164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 15.3318308698 18079962 19009564 18544905 21159647 18775883 16267830 19126423 19539802 18093689 16842330 18282651 17854601 2563599 18164116 19519916 17174075 18253720 19004024 9362446 3124819 17942915
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 15.331399818 17172636 2563599 18308698 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 15.3312151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7617391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.5312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8518516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0318520028 20135361 20869020 18569708 20064080 6695378 17053015 18816296 20464547
MESH:D008175 Lung Neoplasms Curcumin 5.0319359593 16243823 18462866
MESH:D008175 Lung Neoplasms Diethylnitrosamine 5.0321163286 20970405 6695378 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0319555203 11884234
MESH:D008223 Lymphoma Curcumin 3.7518462866
MESH:D016399 Lymphoma, T-Cell Curcumin 5.0016173963
MESH:D008545 Melanoma Curcumin 2.4417885582 18462866
MESH:D008569 Memory Disorders Curcumin 4.4317263510
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009101 Multiple Myeloma Curcumin 3.6819372569
MESH:D009134 Muscular Atrophy, Spinal Curcumin 5.2617962980
MESH:D009181 Mycoses Amiodarone 5.2817974566 12754197
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8117484760
MESH:D009361 Neoplasm Invasiveness Curcumin 4.6518495463
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.659029167 3581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009376 Neoplasms, Hormone-Dependent Curcumin 4.9112497104
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009423 Nervous System Neoplasms Curcumin 6.0118462866
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D009765 Obesity Curcumin 2.7919297423
MESH:D010018 Osteomalacia Phenobarbital 4.7017016548
MESH:D010024 Osteoporosis Curcumin 3.6118719352
MESH:D010051 Ovarian Neoplasms Curcumin 2.8819020741 18462866
MESH:D010190 Pancreatic Neoplasms Curcumin 9.1019401701 19196508 17440100
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 9.1016540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 9.1016965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.822563599
MESH:D011230 Precancerous Conditions Phenobarbital 9.822563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11399792 11222880 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2717292933
MESH:D011471 Prostatic Neoplasms Curcumin 3.2715129424 11398177 18226269 18156803 10851300 18769126 12497104
MESH:D019310 Pseudolymphoma Phenobarbital 4.8712752131
MESH:D011656 Pulmonary Emphysema Curcumin 4.7619168576
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9311597910 12490602 12832656
MESH:D012128 Respiratory Distress Syndrome, Adult Curcumin 4.2818379247 10666014
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012509 Sarcoma Curcumin 4.3418462866
MESH:D012640 Seizures Phenobarbital 2.843137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.166407741
MESH:D018805 Sepsis Curcumin 4.2818389075
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.4218724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.382093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3818456281
MESH:D013276 Stomach Ulcer Amiodarone 8.2918087811
MESH:D013276 Stomach Ulcer Curcumin 8.2919188055 16631530
MESH:D013610 Tachycardia Amiodarone 4.5711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4719225199
MESH:D013959 Thyroid Diseases Amiodarone 13.3419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.3412697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.797505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.791399818
MESH:D013971 Thyrotoxicosis Amiodarone 5.1719584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.5317467628 11989578
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4617053015
MESH:D001749 Urinary Bladder Neoplasms Curcumin 5.4618593936
MESH:D014565 Urogenital Neoplasms Curcumin 5.6018462866
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
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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