AutismKB 2.0

Annotation Detail for SLC4A11


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Basic Information Top
Gene Symbol:SLC4A11 ( BTR1,CHED2,MGC126418,MGC126419,NABC1,dJ794I6.2 )
Gene Full Name: solute carrier family 4, sodium borate transporter, member 11
Band: 20p13
Quick LinksEntrez ID:83959; OMIM: 610206; Uniprot ID:S4A11_HUMAN; ENSEMBL ID: ENSG00000088836; HGNC ID: 16438
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Corneal endothelial dystrophy 2
Corneal endothelial dystrophy and perceptive deafness
Corneal dystrophy, Fuchs endothelial, 4
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 increased expression of SLC4A11 mRNAincreases expression 19933214
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SLC4A11 mRNAincreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of SLC4A11 mRNAincreases expression 20382639
D011374 Progesterone Progesterone results in decreased expression of SLC4A11 mRNAdecreases expression 18037150
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SLC4A11 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 15322242 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.9517868700
MESH:D001930 Brain Injuries Progesterone 4.7415665606 15380490 15845082
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8317474063 20146248
MESH:D001943 Breast Neoplasms Progesterone 1.8316175315 15562024 17614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9620889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 12621046 16354765 15668235 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:C535473 Corneal dystrophy and perceptive deafness marker/mechanism
OMIM:613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 marker/mechanism
MESH:C536439 Corneal endothelial dystrophy type 2 marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003929 Diabetic Neuropathies Progesterone 4.9817187935
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.2217692515
MESH:D004715 Endometriosis Progesterone 10.1116134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 10.1110568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5920426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 18606429 15340226 16354765 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8915869954
MESH:D007249 Inflammation Progesterone 5.5215869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5212200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7020195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2618569708 20135361 18816296 20064080 18520028 20869020 20464547 6695378 17053015
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2619555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.0717203775 11408345
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D010051 Ovarian Neoplasms Progesterone 2.6117393432 16525653
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9518045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.8215862959 16503802
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38139
    • No data
    Releated disease ID Related disease Name
    PA443792Corneal Dystrophies, Hereditary
    PA443840Deafness
    No data
    Drug Bank Top

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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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