AutismKB 2.0

Annotation Detail for TTN


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Basic Information Top
Gene Symbol:TTN ( CMD1G,CMH9,CMPD4,DKFZp451N061,EOMFC,FLJ26020,FLJ26409,FLJ32040,FLJ34413,FLJ39564,FLJ43066,HMERF,LGMD2J,TMD )
Gene Full Name: titin
Band: 2q31.2
Quick LinksEntrez ID:7273; OMIM: 188840; Uniprot ID:Q4ZG20_HUMAN; ENSEMBL ID: ENSG00000155657; HGNC ID: 12403
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05414Dilated cardiomyopathy
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Cardiac diseases
H00294Dilated cardiomyopathy (DCM)
H00292Hypertrophic cardiomyopathy (HCM)
Desease IDDesease Name
1918Atherosclerosis
2115Muscular dystrophies
2259Hereditary disease
Desease Name
CARDIOVASCULAR
QT interval
Desease Name
QT interval
Desease Name
Myopathy, early-onset, with fatal cardiomyopathy
Myopathy, proximal, with early respiratory muscle involvement
Cardiomyopathy, familial hypertrophic, 9
Cardiomyopathy, dilated, 1G
Tibial muscular dystrophy, tardive
Muscular dystrophy, limb-girdle, type 2J
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Triiodothyronine affects the expression of TTN mRNA]affects expression|decreases reaction 18096819
C518576 2-methylbutyric acid 4-((1,3)dioxan-5-ylmethoxyimino)-8-(2-(4-hydroxy-6-oxo-tetrahydropyran-2-yl)ethyl -7-methyl-6-oxo-1,2,3,4,6,7,8,8a-octahydronaphthyl)heptanoate 2-methylbutyric acid 4-((1,3)dioxan-5-ylmethoxyimino)-8-(2-(4-hydroxy-6-oxo-tetrahydropyran-2-yl)ethyl -7-methyl-6-oxo-1,2,3,4,6,7,8,8a-octahydronaphthyl)heptanoate results in decreased expression of TTN mRNAdecreases expression 17327690
D000082 Acetaminophen Acetaminophen affects the expression of TTN mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TTN mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A results in increased expression of TTN mRNAincreases expression 18180321
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of TTN mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of TTN mRNAaffects cotreatment|decreases expression 20360939
D014284 Triiodothyronine 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Triiodothyronine affects the expression of TTN mRNA]affects expression|decreases reaction 18096819
D014284 Triiodothyronine AKT1 protein affects the reaction [Triiodothyronine affects the expression of TTN mRNA]affects expression|affects reaction 18096819
D014284 Triiodothyronine Triiodothyronine affects the expression of TTN mRNAaffects expression 18096819
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000236 Adenoma Diethylnitrosamine 2.9810737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.2417620307 16434500 17162532 18056438 19061943 19052882
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001862 Bone Resorption bisphenol A 4.1011985600
MESH:D001943 Breast Neoplasms bisphenol A 2.2217123778
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2217474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.9416779866 20524982 16288022 20935162 17978847 16935385 19171122 16681979 3084413 18494052 19701751 16328049 18210153 19418558 19539802 16830150 19335982 16569478 19052882 10737359 18506893 17162532 19822196 16540662 21159647 17428255 18393292 20214788 17138121 16698587 20007298 20514400 17761372 19383236 17173139 10672840 3581430 16502159 19919837 20084675 19208518 18971187 18978308 18665156 19519916 11831363 20432363 18788625 20727157 18691550 20512989 16878318 16807293 18785209 20101231 18056438 17055752 19107877 19394651
MESH:D002278 Carcinoma in Situ bisphenol A 5.3317123778
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D024741 Cardiomyopathy, Hypertrophic, Familial marker/mechanism
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.0121159647 7505956 2727394 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.9019052882
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2320387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9416081117 11421492 19923254 14725611 19164858 17906064 15619225 12705907 16485898 16781746 14986274 10663392 19420014 11739529 17562736 19416960 10774834 11743745 16393943 18071297 2444490 16177239 16109766 11461765 12594235 17522070 11834606 14550746 12958197 18713872 19370779 19085960 16227642 11529661 12392966 10915739 15968718 11287661 12540782 19739265 12153990
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.9419107877
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D005234 Fatty Liver Diethylnitrosamine 3.4321071580 20387270
MESH:D005756 Gastritis Acetaminophen 4.0516983495
OMIM:603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE marker/mechanism
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D007249 Inflammation Diethylnitrosamine 2.4818785209
MESH:D007333 Insulin Resistance bisphenol A 3.4416393666
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.8110783313
MESH:D007674 Kidney Diseases Acetaminophen 6.6612587719 15629191
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.6615369732
MESH:D007938 Leukemia 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 3.9112970779
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.1416766008
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9418665156 19638242 18522880 18407596 20032147
MESH:D008107 Liver Diseases Acetaminophen 4.0812969438 11587558 16611625 12587719 19784758 16610002 19014921 19460945
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0817034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3119642983 19690152 19090486 19812893 19833225 16942905 15175105 19638242 19255062 19073162 18648771 21278145 19996281 19426721 2422723 19427195 20101389 12112319 9163691 19499222 20118626 20137499 19551842 21047994 10737359 18754104 20492335 20452335 20434301 18644402 20405173 12771043 19850985 2862719 18977376 15885732 18978307 19294768 19254457 20583210 19256749 21167192 21071580 20501860
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.773124819 18164116 18079962 18308698 18775883 17854601 19126423 17174075 18544905 18093689 18253720 19519916 17942915 21159647 19009564 16267830 9362446 19004024 16842330 18282651 19539802 2563599
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7620970405 21163286 20512841 6695378
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
OMIM:608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J marker/mechanism
OMIM:611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY marker/mechanism
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.653581430 9029167
MESH:D009421 Nervous System Malformations bisphenol A 4.2516427766 11399458
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.8618514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.8620387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D010049 Ovarian Diseases bisphenol A 5.3311985600
MESH:D010051 Ovarian Neoplasms 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 3.4416211241
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4916540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.2910548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4520887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3716740699
MESH:D011629 Puberty, Precocious bisphenol A 5.1210548101
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019966 Substance-Related Disorders bisphenol A 4.3216045194 16684133
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.167505956
OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE marker/mechanism
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014591 Uterine Diseases bisphenol A 5.3814652134
Pathway ID Pathway Name
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37067
    • No data
    No data
    Releated drug ID Related drug Name
    PA450626nicotine
    Drug Bank Top

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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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