AutismKB 2.0

Annotation Detail for ENOPH1


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Basic Information Top
Gene Symbol:ENOPH1 ( DKFZp586M0524,E1,FLJ12594,MASA,MST145 )
Gene Full Name: enolase-phosphatase 1
Band: 4q21.22
Quick LinksEntrez ID:58478; OMIM: NA; Uniprot ID:ENOPH_HUMAN; ENSEMBL ID: ENSG00000145293; HGNC ID: 24599
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00270Cysteine and methionine metabolism
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of ENOPH1 mRNAincreases expression 20106945
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of ENOPH1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of ENOPH1 mRNAincreases expression 19482888
D019772 Topotecan ENOPH1 protein affects the susceptibility to Topotecanaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.186195326
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.7117620307
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9517173139 20007298 1701930 6705139 20935162
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.904080065
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D004421 Dystonia Phenobarbital 4.531851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.763659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.7411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.966401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.907750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.763659116
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006529 Hepatomegaly Phenobarbital 4.1316109766
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.568314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1021047994
MESH:D008107 Liver Diseases Phenobarbital 2.2519363144
MESH:D008113 Liver Neoplasms Phenobarbital 2.4319812893 8742319 19482888 15975961 21047994 19073162
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.956150874 1399818 2563599 17172636 18308698
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.2217484760
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D009447 Neuroblastoma Topotecan 4.0415176712
MESH:D010018 Osteomalacia Phenobarbital 5.1117016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6116965848
MESH:D011230 Precancerous Conditions Cyclosporine 10.3812371664
MESH:D011230 Precancerous Conditions Phenobarbital 10.382563599
MESH:D019310 Pseudolymphoma Phenobarbital 5.3612752131
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D012640 Seizures Phenobarbital 2.973137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.566407741
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.391399818
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
KEGG:00270 Cysteine and methionine metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB07912 - 2-OXOHEPTYLPHOSPHONIC ACID
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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