AutismKB 2.0

Annotation Detail for BTD


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Basic Information Top
Gene Symbol:BTD ( - )
Gene Full Name: biotinidase
Band: 3p25.1
Quick LinksEntrez ID:686; OMIM: 609019; Uniprot ID:BTD_HUMAN; ENSEMBL ID: ENSG00000169814; HGNC ID: 1122
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa01100Metabolic pathways
hsa00780Biotin metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1951Overnutrition
No data
No data
Desease Name
Biotinidase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of BTD mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of BTD proteinaffects expression 20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of BTD mRNAdecreases expression 15336504
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased activity of BTD proteindecreases activity 12867299
D016572 Cyclosporine Cyclosporine results in decreased expression of BTD mRNAdecreases expression 20106945
C004648 testosterone enanthate testosterone enanthate affects the expression of BTD mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001321 Autistic Disorder marker/mechanism 13680408
MESH:D028921 Biotinidase Deficiency marker/mechanism
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2018705752 16124888 16097048 16011737 15721981 16192424 10355542 16050911 16227642 15673190 15700767 3786805
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.8216705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.8212907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.8218788625
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7312371664
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1321346803 18551238
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.1315027814 6623471 7179309 16227642 19336974 7440962 11566570 15968718 10092053 9327722 2869522 10915739 6884620 3732212 15998439 3786805 21278145 7120509 16177239 4309450 17522070 19085960
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.8116045604 17595544 12631006 15959796 16239168 12795759 19224547 61145
MESH:D005234 Fatty Liver Cyclosporine 8.8119224547
MESH:D005355 Fibrosis Carbon Tetrachloride 10.0918705752
MESH:D005355 Fibrosis Cyclosporine 10.0912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9719110552 19900420
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.2717440010
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9916899240
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5015338365
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.508314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.1816705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9611408273 17334410 16239168 17174718 16221502 21278145 16943688 11903743 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7515818738 18210741 15123356 12649538 16097048 16248980 16011737 18472094 12586293 15673190 12609069 12389079 18263696 12546737 17640975 18277467 18418968 15730626 18339082 12898905 18187930 12632514 13678700 14512876 18279442 12445418 17721639 17698563 16027843 15370692 18395095 16136751 18251166 14748882 17766677 16638106 18376398 17922224 17708605 17557913 12632512 17481882 18156304 18472332 17761835 17869086 12445421 18054572 17714472 15925388 17631135 15931870 16192424 18412020 16033810 15338365 12958196 14620537 15959796 17805973 10355542 18395914 17525996 18006644 15362042 14724832 17976157 15057751 14716833 17944888 12741479 18481824 15996030 16015684 17900296 20821823 15876570 15893842 12667390 12666154 18429990 18166357 18420326 17565644 18205269 14716496 16116963 11481614 15052691 15650968 17823541 18317297 18705752
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1416246199 15830285 17285989 15720792 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9916899240 14706259
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.9618177683 9163691 15890375 2125692
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.9619294768
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.608603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.6015583823 12014681
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8814755239
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7316049721 12819281
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.818532709
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3816049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:00780 Biotin metabolism
KEGG:01100 Metabolic pathways
KEGG:04977 Vitamin digestion and absorption
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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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