AutismKB 2.0

Annotation Detail for ANK1


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Basic Information Top
Gene Symbol:ANK1 ( ANK,SPH1,SPH2 )
Gene Full Name: ankyrin 1, erythrocytic
Band: 8p11.21
Quick LinksEntrez ID:286; OMIM: 612641; Uniprot ID:ANK1_HUMAN; ENSEMBL ID: ENSG00000029534; HGNC ID: 492
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Axon guidance
No data
No data
Pathway IDPathway Name
500097L1CAM interactions
500101CHL1 interactions
500102Neurofascin interactions
500103NrCAM interactions
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00230Hereditary spherocytosis
Desease IDDesease Name
2204Hemolytic anemia
Desease Name
spherocytosis
hereditary spherocytosis
Desease Name
Glycated hemoglobin levels
Desease Name
Spherocytosis, type 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004958 Estradiol Estradiol results in increased expression of ANK1 mRNAincreases expression 20068009
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ANK1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of ANK1 mRNAdecreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ANK1 mRNAaffects cotreatment|increases expression 17942748
D019833 Genistein Genistein results in decreased expression of ANK1 mRNAdecreases expression 16705744
D013629 Tamoxifen Tamoxifen affects the expression of ANK1 mRNAaffects expression 17555576
C004648 testosterone enanthate testosterone enanthate affects the expression of ANK1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ANK1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Estradiol 7.4511473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.4514692618
MESH:D000230 Adenocarcinoma Genistein 7.4511473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental marker/mechanism 18728347
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Estradiol 1.9818497071 16675129 14630087 12948864 17018787 19861407 17261762 17289903
MESH:D001943 Breast Neoplasms Genistein 1.9817200150 16873071 16541309
MESH:D001943 Breast Neoplasms Tamoxifen 1.9818821012 19155303 18855134 19189212 16273361 19221464 18629630 17893378 19142967 18815881 16818667 18351453 17242785 19011961 19066611 11161223 19059307 19084267 19244106 19189210 18997820 20135344 16202921 20544844 18984771 20390343 19103187 16873071 20005174 18425577 20065188 17440819 21152245 19410462 17049068 15565566 19200415 17261762 19115204 19288272 19289846 20859285 15668708 19487384 21138602
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.8516924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 4.8516924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.5116332659
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9818566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1015861022 16105132 17333356 16919318 17110522 11677210 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 16354765 15340226 12621046 15668235
MESH:D003110 Colonic Neoplasms Genistein 2.3317182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.5416647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5417107852
MESH:D003928 Diabetic Nephropathies Estradiol 9.8119279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.8119279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D004714 Endometrial Hyperplasia Genistein 5.0516402032
MESH:D016889 Endometrial Neoplasms Estradiol 13.6019148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Genistein 13.6011473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 13.6020544844 19155303 17893378 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.7915345470
MESH:D005234 Fatty Liver Tamoxifen 8.7919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005909 Glioblastoma Genistein 3.4516598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.2717440010
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 16959395 15340226 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712200463 12878042
MESH:D007333 Insulin Resistance Estradiol 3.1616627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Estradiol 2.7415618244
MESH:D007680 Kidney Neoplasms Estradiol 8.2915610895
MESH:D007680 Kidney Neoplasms Tamoxifen 8.2918625569
MESH:D007938 Leukemia Genistein 3.1618980019 17468513
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.2014716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.2017823541
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.2018564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.2012878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3218625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3211884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 11.1111408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Genistein 11.1112929590 14578162
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 11.1119196722 16827153 11731420 19196723 14580682
MESH:D020149 Manganese Poisoning Estradiol 14.4519453300
MESH:D020149 Manganese Poisoning Tamoxifen 14.4519453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D009203 Myocardial Infarction Genistein 2.9617141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.3316810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 9.3317141266
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009421 Nervous System Malformations Estradiol 18.7116427766 11399458
MESH:D009421 Nervous System Malformations Genistein 18.7116427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 18.7114600291
MESH:D010024 Osteoporosis Genistein 3.4319401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.4416169203
MESH:D010051 Ovarian Neoplasms Estradiol 5.1719401270
MESH:D010051 Ovarian Neoplasms Genistein 5.1719005980
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11118676 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2120887781
MESH:D011471 Prostatic Neoplasms Estradiol 2.5216740699
MESH:D011471 Prostatic Neoplasms Genistein 2.5215378649 15256057 16925846
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013103 Spherocytosis, Hereditary marker/mechanism
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4517572228 8653321 16712894
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base 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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