AutismKB 2.0

Annotation Detail for AMPD1


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Basic Information Top
Gene Symbol:AMPD1 ( MAD,MADA )
Gene Full Name: adenosine monophosphate deaminase 1
Band: 1p13.2
Quick LinksEntrez ID:270; OMIM: 102770; Uniprot ID:AMPD1_HUMAN; ENSEMBL ID: ENSG00000116748; HGNC ID: 468
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6353purine nucleotides degradation II (aerobic)
Pathway IDPathway Name
hsa00230Purine metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of nucleotides
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1781Rheumatoid arthritis
1787Heart disease
1878Ischemia
2075Heart failure
2236Cardiovascular disease
Desease Name
rheumatoid arthritis
CARDIOVASCULAR
Coronary Artery Disease
cardiac function
PHARMACOGENOMIC
metabolic syndrome
METABOLIC
insulin
left ventricular dysfunction
Heart Failure
congestive heart failure
No data
Desease Name
Myoadenylate deaminase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of AMPD1 mRNAaffects expression 16483693
D005419 Flavonoids Flavonoids results in increased expression of AMPD1 mRNAincreases expression 18035473
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.4418287403
MESH:C538234 Adenosine monophosphate deaminase deficiency marker/mechanism
MESH:D007249 Inflammation Flavonoids 2.8617296493
MESH:D018908 Muscle Weakness marker/mechanism 10996775
MESH:D009133 Muscular Atrophy marker/mechanism 10996775
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:1698 Metabolism of nucleotides
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24776
    • No data
    Releated disease ID Related disease Name
    PA444516Hypercholesterolemia
    PA444528Hyperlipidemias
    PA444997Muscular Diseases
    PA157379134Myalgia unspecified
    PA445028Myositis
    PA445549Rhabdomyolysis
    PA443434Arthritis, Rheumatoid
    Releated drug ID Related drug Name
    PA448048adenine
    PA448049adenosine
    PA449692folic acid
    PA448500atorvastatin
    PA448897cerivastatin
    PA449688fluvastatin
    PA451089pravastatin
    PA134308647rosuvastatin
    PA451363simvastatin
    PA450428methotrexate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00131 - Adenosine monophosphate Dietary supplement;Micronutrient
    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


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