AutismKB 2.0

Annotation Detail for AIM2


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Basic Information Top
Gene Symbol:AIM2 ( PYHIN4 )
Gene Full Name: absent in melanoma 2
Band: 1q23.1-q23.2
Quick LinksEntrez ID:9447; OMIM: 604578; Uniprot ID:AIM2_HUMAN; ENSEMBL ID: ENSG00000163568; HGNC ID: 357
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04623Cytosolic DNA-sensing pathway
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D008727 Methotrexate AIM2 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 5.3312039119
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1917286800
MESH:D001943 Breast Neoplasms Methotrexate 3.0516978400
MESH:D019465 Craniofacial Abnormalities Methotrexate 2.6712039119 9562676
MESH:D003550 Cystic Fibrosis Methotrexate 4.8119747007
MESH:D003882 Dermatomyositis Methotrexate 5.9120191521
MESH:D006086 Graft vs Host Disease Methotrexate 6.0616518429
MESH:D007805 Language Development Disorders Methotrexate 5.809562676
MESH:D008103 Liver Cirrhosis Methotrexate 3.9514986274
MESH:D017563 Lung Diseases, Interstitial Methotrexate 6.4418516814
MESH:D008223 Lymphoma Methotrexate 4.3317352296
MESH:D052016 Mucositis Methotrexate 6.3717488658
MESH:D011565 Psoriasis Methotrexate 3.5717410198
MESH:D051437 Renal Insufficiency Methotrexate 5.6217352296
MESH:D013576 Syndactyly Methotrexate 5.829562676
Pathway ID Pathway Name
KEGG:04623 Cytosolic DNA-sensing pathway
Pharmacogenomics Knowledge Base Top
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  (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