AutismKB 2.0

Annotation Detail for CHML


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Basic Information Top
Gene Symbol:CHML ( FLJ10071,FLJ13361,REP2 )
Gene Full Name: choroideremia-like (Rab escort protein 2)
Band: 1q43
Quick LinksEntrez ID:1122; OMIM: 118825; Uniprot ID:RAE2_HUMAN; ENSEMBL ID: ENSG00000203668; HGNC ID: 1941
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of CHML mRNAdecreases expression 19933214
D001151 Arsenic Arsenic affects the expression of CHML mRNAaffects expression 18414638
C006632 arsenic trioxide arsenic trioxide results in increased expression of CHML mRNAincreases expression 20458559
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 CHML mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of CHML mRNAdecreases expression 20106945
D018038 Sodium Selenite Sodium Selenite results in decreased expression of CHML mRNAdecreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CHML mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2411752688 14514962 15322242
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3419825857 11798837
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.6617306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D020261 Arsenic Poisoning Arsenic 2.9316835338 16251483 12569548 18414634
MESH:D050197 Atherosclerosis Arsenic 3.4019371607 12928151
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.9216206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.9212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6311589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7317687452 15504454
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.3316507464 17306315
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.3314691202 15553829 16217749 11135700 15073043
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.3219014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3812490120
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7517687452 15504454 18922899
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.3418640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Arsenic 3.6315738583 19152805 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.5618022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1115894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2012621046 8697196 16354765 15340226 15668235
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5310525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5310048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4015213294
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0316285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.0315131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6620426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6612903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver arsenic trioxide 8.7115073043
MESH:D005234 Fatty Liver Cyclosporine 8.7119224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 9.7012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D005534 Foot Diseases Arsenic 6.006392382
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5916904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2512621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4918606429 16354765 16959395 8697196 15340226
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.7217050553
MESH:D006973 Hypertension Arsenic 9.109931084 11953799 16076760
MESH:D006973 Hypertension Cyclosporine 9.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.1018850075 18670907
MESH:D006987 Hypesthesia Arsenic 6.0016093927
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.4514714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007642 Keratosis Arsenic 5.3912749816 16930632
MESH:D007674 Kidney Diseases Cyclosporine 2.488314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9712371664
MESH:D007938 Leukemia arsenic trioxide 2.9515070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0812560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1717050201 20471514 19850784 16968895 16467208
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 8.3517339181
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 8.3516331271 12018890 15336539 19035177 11161223 17649720 16330433 17712046 16966277 17107899 19225113 15213294 17869043 16823087 12679006 16112521 15748426 19642359 15622746 16891316 19075265 9834237 17217047 11468182 12712474
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6816882451
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Arsenic 2.5911134558
MESH:D008113 Liver Neoplasms Arsenic 7.9916368122
MESH:D008113 Liver Neoplasms arsenic trioxide 7.9914682389
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9916984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.3420377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5615213294
MESH:D008175 Lung Neoplasms Arsenic 3.5817976673 19168569 17306315
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5819825857 11798837
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5811884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3614737004
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2914977855 11468182 15949261 19549372 19417148
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1218349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2816882451 16105982
MESH:D017202 Myocardial Ischemia Arsenic 9.7515371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.7512213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2916624393
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects Arsenic 8.0216620997
MESH:D009436 Neural Tube Defects arsenic trioxide 8.0210525206
MESH:D020078 Neurogenic Inflammation Arsenic 4.6817056641
MESH:D010051 Ovarian Neoplasms Arsenic 5.2617306315
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.2612452020 19769630 16624393
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6015580305
MESH:D010235 Paraganglioma arsenic trioxide 4.4719927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.5116093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.396392382 15371236 16905509
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911222880 11399792 11118676 11896295
MESH:D011471 Prostatic Neoplasms Arsenic 2.6016140617
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.6019131511
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.6018760546
MESH:D011507 Proteinuria Arsenic 4.3121343184
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2916646077
MESH:D012871 Skin Diseases Arsenic 2.8017938729 19834688 16702368 18709164 17548696 17050553 6392382 16759981 17453740 16353154 15952646
MESH:D012878 Skin Neoplasms Arsenic 6.0916251483 19538983 17050553 15504454 17976673 17029826
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0916192470
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3615213294
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.5819322015 19429237 11144890 18640142 15987713 17306315 17976673
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.5812973940 20435036 11780464 12845720
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014652 Vascular Diseases Arsenic 5.1317056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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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