AutismKB 2.0

Annotation Detail for MEFV


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Basic Information Top
Gene Symbol:MEFV ( FMF,MEF,MGC126560,MGC126586,TRIM20 )
Gene Full Name: Mediterranean fever
Band: 16p13.3
Quick LinksEntrez ID:4210; OMIM: 608107; Uniprot ID:MEFV_HUMAN; ENSEMBL ID: ENSG00000103313; HGNC ID: 6998
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04621NOD-like receptor signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Other immune system disease
Immune system diseases
H00288Familial Mediterranean fever
Desease IDDesease Name
1711Familial Mediterranean fever
1723Brucellosis
1744Vasculitis
1869Behcet syndrome
1963Amyloidosis
1977Rheumatism
1998Enteritis
2083IGA glomerulonephritis
2094Ulcerative colitis
2111Systemic infection
Desease Name
arthritis
Mediterranean fever
IgD
Familial Mediterranean Fever
ulcerative colitis
Behcet's disease thromboembolism, venous
multiple sclerosis
amyloidosis
IMMUNE
Behcet's Disease
METABOLIC
secondary and FMF amyloidosis.
No data
Desease Name
Familial Mediterranean fever, AD
Familial Mediterranean fever, AR
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of MEFV mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MEFV mRNAaffects expression 16483693
D014303 Trinitrotoluene Trinitrotoluene affects the expression of MEFV mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.937525203
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 8.2810977129
MESH:D002386 Cataract Trinitrotoluene 8.2815817613 14694615
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.8215095906
MESH:D003490 Cyanosis Trinitrotoluene 5.5718551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.3810774834 12540782 15968718 14725611 16177239 16393943 18071297 2444490 10915739 12594235 19420014 11529661 16227642 19923254 12705907 11739529 16109766 18713872 19739265 19370779 19085960 10663392 17522070 16485898 11834606 16781746 11287661 14550746 14986274 17562736 12958197 11743745 11421492 19164858 11461765 12153990 17906064 12392966 16081117 19416960 15619225
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 4.3818551238 21346803
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D010505 Familial Mediterranean Fever marker/mechanism
OMIM:134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT marker/mechanism
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:D008107 Liver Diseases Acetaminophen 1.7112587719 12969438 16610002 19460945 11587558 19014921 16611625 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6816871587 17185352
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D009336 Necrosis Trinitrotoluene 5.5118551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D009784 Occupational Diseases Trinitrotoluene 4.7814694615 17852074 12819281
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D012640 Seizures Trinitrotoluene 3.7218551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.8515817613
MESH:D014581 Urticaria Acetaminophen 3.5010982225
Pathway ID Pathway Name
KEGG:04621 NOD-like receptor signaling pathway
Pharmacogenomics Knowledge Base Top
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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