AutismKB 2.0

Annotation Detail for MKKS


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Basic Information Top
Gene Symbol:MKKS ( BBS6,HMCS,KMS,MKS )
Gene Full Name: McKusick-Kaufman syndrome
Band: 20p12.2
Quick LinksEntrez ID:8195; OMIM: 604896; Uniprot ID:MKKS_HUMAN; ENSEMBL ID: ENSG00000125863; HGNC ID: 7108
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00418Bardet-Biedl syndrome
Genetic disorders
No data
No data
No data
Desease Name
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of MKKS mRNAdecreases expression 20406850
D000082 Acetaminophen Acetaminophen affects the expression of MKKS mRNAaffects expression 17562736
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of MKKS mRNAdecreases expression 15336504
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9716705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.973084413
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.066135515
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.6718551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0521346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0516393943 12705907 11739529 16109766 19923254 19085960 12540782 16081117 15968718 18071297 19370779 11461765 19164858 16177239 16485898 11287661 18713872 19739265 11529661 19416960 2444490 16227642 10663392 11834606 11743745 12958197 12594235 10915739 19420014 16781746 12392966 12153990 15619225 14725611 17562736 17906064 10774834 14986274 17522070 14550746 11421492
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4215629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3616705839
MESH:D008107 Liver Diseases Acetaminophen 1.7119014921 16611625 12969438 16610002 19784758 11587558 19460945 12587719
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 2.792876786 2876784 6135515
OMIM:236700 MCKUSICK-KAUFMAN SYNDROME marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.607678174 18551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8816049721
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D012640 Seizures 2,6-dinitrotoluene 2.8218551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.868532709
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
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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