AutismKB 2.0

Annotation Detail for GFM1


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Basic Information Top
Gene Symbol:GFM1 ( COXPD1,EFG,EFG1,EFGM,EGF1,FLJ12662,FLJ13632,FLJ20773,GFM,hEFG1 )
Gene Full Name: G elongation factor, mitochondrial 1
Band: 3q25.32
Quick LinksEntrez ID:85476; OMIM: 606639; Uniprot ID:EFGM_HUMAN; ENSEMBL ID: ENSG00000168827; HGNC ID: 13780
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Combined oxidative phosphorylation deficiency 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C032036 bromobenzene bromobenzene results in increased expression of GFM1 mRNAincreases expression 12628495
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of GFM1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of GFM1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GFM1 mRNAaffects cotreatment|increases expression 17942748
D005419 Flavonoids Flavonoids results in decreased expression of GFM1 mRNAdecreases expression 18035473
C029424 hydrazine hydrazine results in increased expression of GFM1 mRNAincreases expression 15282401
D015741 Metribolone Metribolone results in increased expression of GFM1 proteinincreases expression 17152098
D013629 Tamoxifen Tamoxifen affects the expression of GFM1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GFM1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319244106 19189210 18855134 20544844 19103187 20135344 18351453 19115204 17242785 11161223 16873071 20390343 21152245 19189212 18997820 16202921 20005174 19155303 18984771 19221464 19200415 19011961 18425577 15565566 19410462 17893378 18821012 19142967 19288272 19084267 16273361 18629630 21138602 15668708 17261762 18815881 20065188 19066611 16818667 20859285 17049068 19289846 19487384 19059307 17440819
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717681005 17333356 16105132 11677210 16919318 15861022 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 12621046 15340226 16354765 15668235
OMIM:609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 marker/mechanism
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury bromobenzene 4.3610092053 12628495
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.3620420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2119155303 17893378 20544844 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6415345470
MESH:D005234 Fatty Liver Tamoxifen 8.6414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4918606429 16354765 8697196 16959395 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Flavonoids 9.0717296493
MESH:D007249 Inflammation Tamoxifen 9.0719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 9.0712200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2718625569
MESH:D008064 Lipidoses Tamoxifen 3.3515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3512878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.6916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3119555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7911731420 16827153 14580682 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911399792 11896295 11118676 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.448653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134971637
    • No data
    Releated disease ID Related disease Name
    PA152241953Encephalopathy, Infantile
    PA444736Leigh Disease
    No data
    Drug Bank Top

    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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