AutismKB 2.0

Annotation Detail for TCHH


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Basic Information Top
Gene Symbol:TCHH ( MGC157889,MGC157890,THH,THL,TRHY )
Gene Full Name: trichohyalin
Band: 1q21.3
Quick LinksEntrez ID:7062; OMIM: 190370; Uniprot ID:TRHY_HUMAN; ENSEMBL ID: ENSG00000159450; HGNC ID: 11791
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
DEVELOPMENTAL
hair morphology
Desease Name
Hair morphology
Common traits (Other)
No data
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 increased expression of TCHH mRNAincreases expression 19933214
D010634 Phenobarbital Phenobarbital results in decreased expression of TCHH mRNAdecreases expression 19270015
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of TCHH mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 10.906195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.9011752688 14514962 15322242
MESH:D018248 Adenoma, Liver Cell Phenobarbital 12.6917620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.6916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9520935162 20007298 1701930 17173139 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.904080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 12621046 16354765 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004421 Dystonia Phenobarbital 4.531851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.763659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.743922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.966401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.907750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.763659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Phenobarbital 10.7116109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.7116120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116354765 18606429 8697196 15340226 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1021047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Phenobarbital 2.2519363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.878742319 19812893 19482888 21047994 15975961 19073162
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8716984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.642563599 1399818 18308698 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.6412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.2217484760
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010018 Osteomalacia Phenobarbital 5.1117016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6116965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011230 Precancerous Conditions Phenobarbital 4.042563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311118676 11896295 11399792 11222880
MESH:D019310 Pseudolymphoma Phenobarbital 5.3612752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012640 Seizures Phenobarbital 2.973137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.566407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.391399818
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
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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