AutismKB 2.0

Annotation Detail for SHOX2


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Basic Information Top
Gene Symbol:SHOX2 ( OG12,OG12X,SHOT )
Gene Full Name: short stature homeobox 2
Band: 3q25.32
Quick LinksEntrez ID:6474; OMIM: 602504; Uniprot ID:SHOX2_HUMAN; ENSEMBL ID: ENSG00000168779; HGNC ID: 10854
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of SHOX2 mRNAdecreases expression 19933214
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SHOX2 mRNAaffects expression 16483693
D005419 Flavonoids Flavonoids results in decreased expression of SHOX2 mRNAdecreases expression 18035473
D019833 Genistein Genistein results in decreased expression of SHOX2 mRNAdecreases expression 15256057
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in decreased expression of SHOX2 mRNAaffects cotreatment|decreases expression 17183730
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SHOX2 mRNAdecreases expression 16922920
19933214
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SHOX2 mRNAincreases expression 20130022
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in decreased expression of SHOX2 mRNAaffects cotreatment|decreases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6615322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.668875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000230 Adenocarcinoma Genistein 2.5311473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9918177632 18985861 19460635 18316065 19232924 17507914 15238991 18558336 18775368 17688650 16609825 20603192 18940202 17157402 18396377
MESH:D001714 Bipolar Disorder Valproic Acid 3.2020046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.5715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.578888407
MESH:D001943 Breast Neoplasms Genistein 2.0517200150 16541309 16873071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular Genistein 2.1616924424
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Genistein 3.4816332659
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 15340226 8697196 12621046 16354765
MESH:D003110 Colonic Neoplasms Genistein 2.3217182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5410048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5416575769 8888407 17688650
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.5116647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9920420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 3.991733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 15322242 16714409
MESH:D004714 Endometrial Hyperplasia Genistein 4.9916402032
MESH:D016889 Endometrial Neoplasms Genistein 3.5311473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.513659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.363922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.846254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Valproic Acid 3.5814986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.468888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005909 Glioblastoma Genistein 3.4316598420
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 3.2512621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916959395 8697196 16354765 15340226 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9816612254
MESH:D007249 Inflammation Flavonoids 5.4217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4212878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007938 Leukemia Genistein 3.1418980019 17468513
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.4717823541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4712878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Genistein 3.1012929590 14578162
MESH:D008881 Migraine Disorders Valproic Acid 3.3818765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009203 Myocardial Infarction Genistein 2.9517141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.8717141266
MESH:D009421 Nervous System Malformations Genistein 10.7216427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.7214600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.3016359493 8888407
MESH:D010024 Osteoporosis Genistein 3.4119401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.3916169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6719005980
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8211896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.8220603192
MESH:D011471 Prostatic Neoplasms Genistein 3.4215378649 16925846 15256057
MESH:D019310 Pseudolymphoma Valproic Acid 4.9811422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9117978042 1511512 16876388 11044598 3137016 11738929 15475178 14763951
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
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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


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