AutismKB 2.0

Annotation Detail for PGAM5


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Basic Information Top
Gene Symbol:PGAM5 ( BXLBV68,MGC5352 )
Gene Full Name: phosphoglycerate mutase family member 5
Band: 12q24.33
Quick LinksEntrez ID:192111; OMIM: NA; Uniprot ID:PGAM5_HUMAN; ENSEMBL ID: ENSG00000176894; HGNC ID: 28763
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PGAM5 mRNAaffects expression 21346803
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PGAM5 mRNAdecreases expression 20382639
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PGAM5 mRNAaffects expression 17555576
C031280 pyrazole pyrazole results in increased expression of PGAM5 mRNAincreases expression 17945193
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7916705839
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9820889678
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1715861022 16919318 11677210 16105132 17110522 17681005 17333356
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5818551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.5518551238 21346803
MESH:D056486 Drug-Induced Liver Injury pyrazole 4.5512499123
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3216705839
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4918551238
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8212819281 16049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7918551238
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D013733 Testicular Diseases pyrazole 5.456499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.9510091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
Pathway ID Pathway Name
KEGG:00010 Glycolysis / Gluconeogenesis
KEGG:01100 Metabolic pathways
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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