AutismKB 2.0

Annotation Detail for VSX2


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Basic Information Top
Gene Symbol:VSX2 ( CHX10,HOX10,MCOP2,MCOPCB3,RET1 )
Gene Full Name: visual system homeobox 2
Band: 14q24.3
Quick LinksEntrez ID:338917; OMIM: 142993; Uniprot ID:VSX2_HUMAN; ENSEMBL ID: ENSG00000119614; HGNC ID: 1975
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2060Glaucoma
No data
No data
Desease Name
Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of VSX2 mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
D004054 Diethylstilbestrol Diethylstilbestrol inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
D004958 Estradiol bisphenol A inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
D004958 Estradiol Diethylstilbestrol inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
D009151 Mustard Gas Mustard Gas results in increased expression of VSX2 mRNAincreases expression 15674843
D011374 Progesterone bisphenol A inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
D011374 Progesterone Diethylstilbestrol inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of VSX2 mRNA]affects cotreatment|decreases reaction|increases expression 18653720
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D000686 Amyloidosis Diethylstilbestrol 4.8615469931
MESH:D001249 Asthma Mustard Gas 2.7810378619
MESH:D001768 Blister Mustard Gas 5.6219167455
MESH:D001862 Bone Resorption bisphenol A 4.1911985600
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.8617868700
MESH:D001930 Brain Injuries Progesterone 4.6815380490 15665606 15845082
MESH:D001943 Breast Neoplasms bisphenol A 2.0317123778
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.0315324884 17129689
MESH:D001943 Breast Neoplasms Estradiol 2.0316675129 12948864 17261762 19861407 14630087 17018787 17289903 18497071
MESH:D001943 Breast Neoplasms Progesterone 2.0316175315 17614352 15562024
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.6215286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.5017687719 10378619
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 3.2616924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.2616924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.4517123778
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9818566989
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.9412952375 16002989
MESH:D003928 Diabetic Nephropathies Estradiol 3.7019279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.9117187935
MESH:D004487 Edema Mustard Gas 3.6311402378 11428631 9260866 11428647
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.1617692515
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 5.1616402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 8.1916804899 15700306
MESH:D016889 Endometrial Neoplasms Estradiol 8.1919148513 11473722 18566989
MESH:D004715 Endometriosis Progesterone 4.0716134523
MESH:D004890 Erythema Mustard Gas 5.629357497
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.8316513791 16611131 15751030 16002989 16534752
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.4116452187
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006965 Hyperplasia Diethylstilbestrol 4.8514722030 12960047
MESH:D007021 Hypospadias Diethylstilbestrol 5.0016002989
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8215869954
MESH:D007246 Infertility Diethylstilbestrol 4.7415036965
MESH:D007249 Inflammation Mustard Gas 5.8011428631 11402378 11428620 16001271 9260866 17524151 8975870 9357497 11428647
MESH:D007249 Inflammation Progesterone 5.8015869954
MESH:D007333 Insulin Resistance bisphenol A 8.0816393666
MESH:D007333 Insulin Resistance Estradiol 8.0816627594 16393666
MESH:D007674 Kidney Diseases Estradiol 2.7415618244
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 8.4516762066 14681315 15003126
MESH:D007680 Kidney Neoplasms Estradiol 8.4515610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.4817184923
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008113 Liver Neoplasms Diethylstilbestrol 2.7316712894 15890375
MESH:D008171 Lung Diseases Mustard Gas 3.6518161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.173148597 8781369
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.6115166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.6915700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 6.0416002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.6916891317 11807958 11408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.6917203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.0019453300
OMIM:610093 MICROPHTHALMIA, ISOLATED 2 marker/mechanism
OMIM:610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 marker/mechanism
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5216810080
MESH:D009369 Neoplasms Diethylstilbestrol 2.8915313581
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009421 Nervous System Malformations bisphenol A 18.8211399458 16427766
MESH:D009421 Nervous System Malformations Diethylstilbestrol 18.8211399458
MESH:D009421 Nervous System Malformations Estradiol 18.8216427766 11399458
MESH:D009503 Neutropenia Mustard Gas 4.327688884 16761898
MESH:D010049 Ovarian Diseases bisphenol A 5.4511985600
MESH:D010051 Ovarian Neoplasms Estradiol 5.1419401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.1416525653 17393432
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.6914722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 5.0916977796 15687265
MESH:D011041 Poisoning Mustard Gas 4.1515727166
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 11.4410548101
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 11.4417184923
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.6620887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.6620887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.5616740699
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.5617136230 15046698 15846301
MESH:D011471 Prostatic Neoplasms Estradiol 2.5616740699
MESH:D011537 Pruritus Mustard Gas 4.5518058305
MESH:D011629 Puberty, Precocious bisphenol A 5.2510548101
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0217720292 17894541 17266442 10334151 17620002
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9418045962
MESH:D012871 Skin Diseases Mustard Gas 2.7815451306 12880345 16961503
MESH:D013088 Spermatocele Diethylstilbestrol 5.2316709447 16002989
MESH:D013119 Spinal Cord Injuries Progesterone 4.7416503802 15862959
MESH:D019966 Substance-Related Disorders bisphenol A 4.4516045194 16684133
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8716712894 16452187 17306315
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.3416175088
MESH:D014591 Uterine Diseases bisphenol A 15.6214652134
MESH:D014591 Uterine Diseases Diethylstilbestrol 15.6214652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.4516690809 15809267
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.8516513791 16002989
No data
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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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