AutismKB 2.0

Annotation Detail for FGD1


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Basic Information Top
Gene Symbol:FGD1 ( AAS,FGDY,MRXS16,ZFYVE3 )
Gene Full Name: FYVE, RhoGEF and PH domain containing 1
Band: Xp11.22
Quick LinksEntrez ID:2245; OMIM: 300546; Uniprot ID:FGD1_HUMAN; ENSEMBL ID: ENSG00000102302; HGNC ID: 3663
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04810Regulation of actin cytoskeleton
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Signaling by Rho GTPases
Pathway IDPathway Name
200059Regulation of CDC42 activity
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2001Mental retardation
No data
No data
Desease Name
Mental retardation, X-linked syndromic 16
Aarskog-Scott syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of FGD1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FGD1 mRNAaffects cotreatment|increases expression 17942748
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of FGD1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of FGD1 mRNAincreases expression 19482888
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FGD1 mRNAaffects cotreatment|increases expression 17942748
D019772 Topotecan FGD1 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 10.486195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.4815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 12.2817620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.2816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9520935162 1701930 6705139 20007298 17173139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5616120746 18850075 18670907
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.814080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717333356 16919318 17110522 16105132 15861022 17681005 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.248697196 12621046 15340226 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004421 Dystonia Phenobarbital 4.471851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.673659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.593922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.916401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.817750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.653659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
OMIM:305400 FACIOGENITAL DYSPLASIA marker/mechanism 15327482 14560308 17152066
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Phenobarbital 10.3816109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.3812621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.778697196 15340226 18606429 16354765 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
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:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0821047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Phenobarbital 2.2419363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.8319812893 19073162 15975961 8742319 19482888 21047994
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8316984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.561399818 18308698 2563599 6150874 17172636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.1117484760
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009447 Neuroblastoma Topotecan 4.0215176712
MESH:D010018 Osteomalacia Phenobarbital 5.0017016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6016965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.992563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211399792 11896295 11118676 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 5.2212752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012640 Seizures Phenobarbital 2.9511442880 3137016 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.456407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.361399818
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
KEGG:04810 Regulation of actin cytoskeleton
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
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


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