AutismKB 2.0

Annotation Detail for HOXD12


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Basic Information Top
Gene Symbol:HOXD12 ( HOX4H )
Gene Full Name: homeobox D12
Band: 2q31.1
Quick LinksEntrez ID:3238; OMIM: 142988; Uniprot ID:HXD12_HUMAN; ENSEMBL ID: ENSG00000170178; HGNC ID: 5135
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
talipes equinovarus
DEVELOPMENTAL
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of HOXD12 geneincreases mutagenesis 19108020
D009151 Mustard Gas Mustard Gas results in increased expression of HOXD12 mRNAincreases expression 15674843
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HOXD12 mRNAdecreases expression 19897914
D014212 Tretinoin Tretinoin results in increased expression of HOXD12 mRNAincreases expression 1672266
D014212 Tretinoin Tretinoin results in decreased expression of HOXD12 mRNAdecreases expression 19897914
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 15322242 11752688
MESH:D000236 Adenoma Ethylnitrosourea 3.926695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000505 Alopecia Tretinoin 3.9415955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001169 Arthritis, Experimental Tretinoin 3.3016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Mustard Gas 5.3010378619
MESH:D001249 Asthma Tretinoin 5.3016456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9116935849
MESH:D001768 Blister Mustard Gas 5.7919167455
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.3912125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.3916206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001927 Brain Diseases Ethylnitrosourea 5.2814991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.6816651633 18412241 16357521 15144691 16436596
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9516873071 16443354 16166294
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.7915286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.7017687719 10378619
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.2216813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.8816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3716051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 18850075 16120746
MESH:D002386 Cataract Tretinoin 3.3017460283
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.9816003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.7117160924
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.2216129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002822 Choriocarcinoma Tretinoin 5.8816461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2212621046 15668235 16354765 8697196 15340226
MESH:D002972 Cleft Palate Tretinoin 6.229407595
MESH:D003092 Colitis Tretinoin 4.2617035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5315322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.5310589399 9142499 17551590 9125849 16925845 14991402 9664655 8800419 9211117 9224671
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:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.7118357618
MESH:D004487 Edema Mustard Gas 8.2811428647 9260866 11428631 11402378
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.2812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 14.4915322242 16714409 18230668
MESH:D004489 Edema, Cardiac Tretinoin 14.4918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3516569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D004890 Erythema Mustard Gas 5.799357497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.8211564622
MESH:D005124 Eye Abnormalities Tretinoin 9.8216938888 9664655
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.5520067830
MESH:D005355 Fibrosis Tretinoin 10.5517994277
MESH:D005909 Glioblastoma Ethylnitrosourea 8.2316436596
MESH:D005909 Glioblastoma Tretinoin 8.2317312396
MESH:D005910 Glioma Ethylnitrosourea 3.6216357521 18412241 16651633
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.8816084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1411294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 7.1414991402 9664655
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 16959395 8697196 18606429 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.5316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.1316778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007249 Inflammation Mustard Gas 5.658975870 11428647 9260866 9357497 11428620 16001271 17524151 11402378 11428631
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.6512878042 12200463
MESH:D007410 Intestinal Diseases Tretinoin 4.3317994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.3916580747
MESH:D007569 Jaw Abnormalities Tretinoin 11.3915992940 17551590
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.2717379185
MESH:D007938 Leukemia Tretinoin 2.9317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1219285840 16482212 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1219850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3919029980 17107899 16140955 19642359 12679006 17339181 17506722 19075265 17217047 15748426 16766008 17294898 17368321 17649720 19225113 17361223 16935935 16331271 17301526 9834237 16891316 17712046 16788101 16823087 19035177
MESH:D017880 Limb Deformities, Congenital marker/mechanism 19108020 8620844
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.589224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4012878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4016248980 18397230
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008171 Lung Diseases Mustard Gas 3.7018702808 18161513
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.7316019985 17703301 16271038 6695378
MESH:D008175 Lung Neoplasms Mustard Gas 3.733148597 8781369
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.7319555203 11884234
MESH:D008223 Lymphoma Ethylnitrosourea 4.2215790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.6115375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7410838139 10767621 18041768
MESH:D008527 Medulloblastoma Tretinoin 2.9117453147
MESH:D008545 Melanoma marker/mechanism 16778180
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008579 Meningioma Ethylnitrosourea 6.7117943659
MESH:D008591 Meningomyelocele Tretinoin 4.9916940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2817596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009369 Neoplasms Tretinoin 2.5716946489 16594593
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.9616707424
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.2514600291
MESH:D009421 Nervous System Malformations Tretinoin 11.259125849
MESH:D009436 Neural Tube Defects Tretinoin 3.299142499
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.0516651423 16003739 17160924
MESH:D009503 Neutropenia Mustard Gas 4.4316761898 7688884
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.7117160924
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4416936753
MESH:D010146 Pain Tretinoin 3.2416870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5715976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D011041 Poisoning Mustard Gas 4.2615727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11399792 11222880 11118676
MESH:D011507 Proteinuria Tretinoin 4.0716636307
MESH:D011537 Pruritus Mustard Gas 4.7218058305
MESH:D011625 Pterygium Tretinoin 5.4216723453
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0510334151 17266442 17620002 17894541 17720292
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5616283617 16116481
MESH:D012871 Skin Diseases Mustard Gas 2.7915451306 12880345 16961503
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0916192470
MESH:D012878 Skin Neoplasms Tretinoin 6.0916467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.7915790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3316026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.1816051514
MESH:D014376 Tuberculosis Tretinoin 3.4516040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0716129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.3316752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D014820 Vitiligo Tretinoin 4.5616761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
MESH:D009396 Wilms Tumor Tretinoin 4.3416287080
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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