AutismKB 2.0

Annotation Detail for APH1A


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Basic Information Top
Gene Symbol:APH1A ( 6530402N02Rik,APH-1,APH-1A,CGI-78 )
Gene Full Name: anterior pharynx defective 1 homolog A (C. elegans)
Band: 1q21.2
Quick LinksEntrez ID:51107; OMIM: 607629; Uniprot ID:APH1A_HUMAN; ENSEMBL ID: ENSG00000117362; HGNC ID: 29509
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05010Alzheimer's disease
hsa04330Notch signaling pathway
Pathway IDPathway Name
Signalling by NGF
Signaling by Notch
Pathway IDPathway Name
200013Notch signaling pathway
200170Syndecan-3-mediated signaling events
200103p75(NTR)-mediated signaling
200052Presenilin action in Notch and Wnt signaling
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of APH1A mRNAaffects expression 17562736
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 5.2610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8610977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6910915739 2444490 10663392 19923254 17522070 16393943 19739265 17562736 11287661 15619225 14725611 12153990 12705907 19164858 11421492 19370779 12540782 12594235 12958197 16485898 11529661 11739529 16227642 11743745 11461765 18713872 14550746 16109766 19416960 12392966 18071297 15968718 16781746 16177239 17906064 16081117 14986274 19420014 19085960 10774834 11834606
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.5119426721
MESH:D005756 Gastritis Acetaminophen 5.0916983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1516870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4715629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.7219014921 12587719 19784758 11587558 19460945 16611625 12969438 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.8117185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.4719513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3618514411
MESH:D010146 Pain Acetaminophen 2.8716870215
MESH:D014581 Urticaria Acetaminophen 3.6710982225
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
Drug Bank 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