AutismKB 2.0

Annotation Detail for MTHFSD


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Basic Information Top
Gene Symbol:MTHFSD ( FLJ12998,FLJ13893,MGC138262,MGC138264,MGC177233 )
Gene Full Name: methenyltetrahydrofolate synthetase domain containing
Band: 16q24.1
Quick LinksEntrez ID:64779; OMIM: NA; Uniprot ID:MTHSD_HUMAN; ENSEMBL ID: ENSG00000103248; HGNC ID: 25778
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CHEMDEPENDENCY
smoking cessation
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of MTHFSD mRNAaffects expression 18648102
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of MTHFSD mRNAaffects binding|increases expression 16214954
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 3.003712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 6.091440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.867296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.087505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.519022650 19486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2616354765 15340226 8697196 15668235 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.5511906362 2524372 18759878 11298694 12868966 14531868 8156756 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.102952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.068291058 18289764 1440618 6679447 9653073 18692083 6482804 7440962 18648102 16192314 9022650 9328219 11289319
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0620420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5310568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 6.096705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.647505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5510048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.196705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6516120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1215340226 16354765 8697196 18606429 16959395
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.7015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 6.098074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.406582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.479327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.67598648 1399818 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.6712151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.623581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.216679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.924026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 6.093988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.247296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.546228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811222880 11118676 11896295 11399792
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.743692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.263712494 6582329 6587162 1399818 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.428074119
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00670 One carbon pool by folate
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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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