AutismKB 2.0

Annotation Detail for MMAB


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Basic Information Top
Gene Symbol:MMAB ( ATR,MGC20496,cblB,cob )
Gene Full Name: methylmalonic aciduria (cobalamin deficiency) cblB type
Band: 12q24.11
Quick LinksEntrez ID:326625; OMIM: 607568; Uniprot ID:MMAB_HUMAN; ENSEMBL ID: ENSG00000139428; HGNC ID: 19331
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00860Porphyrin and chlorophyll metabolism
hsa01100Metabolic pathways
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
Desease Name
HDL cholesterol
METABOLIC
Desease Name
HDL cholesterol
Desease Name
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of MMAB mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of MMAB proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of MMAB mRNAdecreases expression 20106945
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of MMAB mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in decreased expression of MMAB mRNAdecreases expression 18445702
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of MMAB mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8620603192 18396377 17157402 16609825 18316065 17688650 17507914 19460635 18985861 18177632 18558336 18940202 15238991 18775368 19232924
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.013084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.0121507988 12907637 12619106
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7312371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis Cyclosporine 8.5319486331
MESH:D002779 Cholestasis pirinixic acid 8.5319176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0416781746 17522070 14725611 11421492 2444490 19416960 11529661 11834606 19739265 16227642 12153990 10915739 12540782 11461765 14550746 18071297 15619225 17906064 19370779 15968718 19164858 16109766 11739529 16081117 11743745 12705907 19923254 19085960 19420014 10774834 10663392 14986274 17562736 11287661 12392966 12958197 12594235 16177239 16393943 16485898 18713872
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.041733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.877562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D005234 Fatty Liver Cyclosporine 15.0319224547
MESH:D005234 Fatty Liver pirinixic acid 15.0319236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 15.0319224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5118558336 8888407
MESH:D005355 Fibrosis Cyclosporine 3.5612168785 12639820
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 18467677 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.0416612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.3415629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 6.348314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0012371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6912587719 19784758 16610002 12969438 11587558 19014921 16611625 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.8118177683 9163691 2125692 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 4.8115890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.928603461
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8814755239
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
OMIM:251110 METHYLMALONIC ACIDURIA, cblB TYPE marker/mechanism
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.3216359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.0612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9411738929 16876388 11044598 15475178 1511512 17978042 3137016 14763951
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00860 Porphyrin and chlorophyll metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00115 - Liver-Stomach Concentrate with Intrinsic Factor Antianemic Agents;Essential Vitamin;Vitamins (Vitamin B Complex)
DB00200 other Vege 1 Daily Caplet Nutritional Supplement;Anti-anemic Agents;Vitamin B Complex;Hematinics
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Simple Query:


  (e.g. CHD8)

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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