AutismKB 2.0

Annotation Detail for MMAA


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Basic Information Top
Gene Symbol:MMAA ( MGC120010,MGC120011,MGC120012,MGC120013,cblA )
Gene Full Name: methylmalonic aciduria (cobalamin deficiency) cblA type
Band: 4q31.21
Quick LinksEntrez ID:166785; OMIM: 607481; Uniprot ID:MMAA_HUMAN; ENSEMBL ID: ENSG00000151611; HGNC ID: 18871
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00174Methylmalonic aciduria
Inherited disorders of amino acid metabolism
Genetic disorders
No data
No data
No data
Desease Name
Methylmalonic aciduria, vitamin B12-responsive
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MMAA mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of MMAA mRNAaffects expression 17562736
D014303 Trinitrotoluene Trinitrotoluene affects the expression of MMAA mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.937525203
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9716705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.973084413
MESH:D002386 Cataract Acetaminophen 8.2810977129
MESH:D002386 Cataract Trinitrotoluene 8.2815817613 14694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.066135515
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.8215095906
MESH:D003490 Cyanosis 2,6-dinitrotoluene 13.5018551238
MESH:D003490 Cyanosis Trinitrotoluene 13.5018551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.9021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.9011529661 16109766 18071297 10915739 11461765 11287661 12540782 19420014 19923254 16081117 12153990 11834606 11739529 14725611 18713872 15968718 14550746 19085960 11743745 16177239 16485898 11421492 19370779 12705907 19416960 14986274 17562736 16227642 16393943 17906064 19164858 19739265 10774834 15619225 10663392 16781746 12594235 17522070 2444490 12958197 12392966
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 6.9018551238 21346803
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006529 Hepatomegaly Trinitrotoluene 4.8815817613
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D007248 Infertility, Male Trinitrotoluene 3.9512150543
MESH:D007674 Kidney Diseases Acetaminophen 2.4215629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3616705839
MESH:D008107 Liver Diseases Acetaminophen 1.7119460945 12587719 12969438 16611625 19784758 11587558 19014921 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.287678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.796135515 2876786 2876784
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
OMIM:251100 METHYLMALONIC ACIDURIA, cblA TYPE marker/mechanism
MESH:D009336 Necrosis 2,6-dinitrotoluene 13.2918551238 7678174
MESH:D009336 Necrosis Trinitrotoluene 13.2918551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.7416049721
MESH:D009784 Occupational Diseases Trinitrotoluene 10.7417852074 14694615 12819281
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D012640 Seizures 2,6-dinitrotoluene 7.1818551238
MESH:D012640 Seizures Trinitrotoluene 7.1818551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.8515817613
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4216049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 5.0610091137
MESH:D014581 Urticaria Acetaminophen 3.5010982225
No data
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/unknown Vege 1 Daily Caplet Nutritional Supplement;Anti-anemic Agents;Vitamin B Complex;Hematinics
No data
No data
No data

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