AutismKB 2.0

Annotation Detail for HMHA1


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Basic Information Top
Gene Symbol:HMHA1 ( HA-1,HLA-HA1,KIAA0223 )
Gene Full Name: histocompatibility (minor) HA-1
Band: 19p13.3
Quick LinksEntrez ID:23526; OMIM: 601155; Uniprot ID:HMHA1_HUMAN; ENSEMBL ID: ENSG00000180448; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Signaling by Rho GTPases
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Related Diseases/Disorders Top
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Desease Name
rheumatoid arthritis
Sjogren's syndrome
IMMUNE
lupus erythematosus
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of HMHA1 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of HMHA1 mRNAincreases expression 19774075
C014347 decitabine decitabine results in increased expression of HMHA1 mRNAincreases expression 19096014
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of HMHA1 mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of HMHA1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HMHA1 mRNAdecreases expression 16611356
C012589 trichostatin A trichostatin A results in increased expression of HMHA1 mRNAincreases expression 19096014
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.0718218290 20041841 18057881
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.1118651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.0019483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms decitabine 1.8719208741 18320071
MESH:D001943 Breast Neoplasms Tamoxifen 1.8720390343 15565566 21138602 11161223 19103187 19155303 16273361 20544844 19410462 19011961 16873071 19189210 19059307 19115204 17242785 15668708 17440819 19142967 17261762 18855134 21152245 19084267 17049068 19221464 19288272 20135344 19487384 18815881 19244106 17893378 19200415 19189212 20859285 18351453 18984771 16202921 16818667 18629630 20005174 20065188 18997820 18821012 19066611 19289846 18425577
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.9516924424
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6519215824
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9715710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.4818974383
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717333356 11677210 15861022 17681005 17110522 16105132 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2012621046 8697196 15668235 15340226 16354765
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5717562736 10915739 14550746 11287661 12540782 18071297 10663392 11834606 16485898 16781746 12153990 17522070 2444490 19739265 19923254 17906064 11743745 19416960 19164858 14986274 11739529 19085960 16393943 12958197 11529661 15968718 18713872 11421492 12594235 12705907 15619225 16227642 19370779 14725611 10774834 16081117 12392966 11461765 16177239 16109766 19420014
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.5718218290 15265979
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D004701 Endocrine Gland Neoplasms decitabine 15.5519294695
MESH:D004701 Endocrine Gland Neoplasms trichostatin A 15.5519294695
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2120544844 19155303 16202921 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Amiodarone 14.8414986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.8415345470
MESH:D005234 Fatty Liver Tamoxifen 14.8419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005909 Glioblastoma trichostatin A 4.0018801729
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6619215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Amiodarone 9.7615265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.7616120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.158137927 9751232
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 4.8717991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male decitabine 7.3117581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.3117937319
MESH:D007249 Inflammation Tamoxifen 5.3219457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3212200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3415629191 12587719
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2718625569
MESH:D007938 Leukemia decitabine 3.1919235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.2819117987 18454857 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.4119387464 18460780 18206229 19010910 18704418 17679729
MESH:D015470 Leukemia, Myeloid, Acute trichostatin A 4.4118206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.9118055864
MESH:D008064 Lipidoses Amiodarone 8.5615342952 17567588
MESH:D008064 Lipidoses Tamoxifen 8.5617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6812969438 16611625 19784758 11587558 19460945 12587719 19014921 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms Tamoxifen 4.6916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7911989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.5512587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.9218516814
MESH:D008175 Lung Neoplasms Tamoxifen 2.3118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3111884234 19555203
MESH:D008223 Lymphoma decitabine 3.6119470736
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7911731420 19196722 14580682 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma decitabine 5.4716505122 17785578
MESH:D008545 Melanoma Tamoxifen 5.4719393235 12393984
MESH:D008545 Melanoma trichostatin A 5.4716505122
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D009101 Multiple Myeloma decitabine 8.3018172295
MESH:D009101 Multiple Myeloma trichostatin A 8.3018172295
MESH:D009181 Mycoses Amiodarone 5.3412754197 17974566
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5218608210 19010910 16882708 19157545
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009369 Neoplasms marker/mechanism 19096014
MESH:D009369 Neoplasms decitabine 2.8319470736 19116145 17925555
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D010051 Ovarian Neoplasms decitabine 5.5119331143 19259094
MESH:D010051 Ovarian Neoplasms trichostatin A 5.5119331143
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010190 Pancreatic Neoplasms decitabine 5.9619294695
MESH:D010190 Pancreatic Neoplasms trichostatin A 5.9619294695
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911118676 11222880 11399792 11896295
MESH:D055728 Primary Myelofibrosis decitabine 13.6517616702
MESH:D055728 Primary Myelofibrosis trichostatin A 13.6517616702
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.4615067354
MESH:D011471 Prostatic Neoplasms trichostatin A 3.4619789329 18798265
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9412490602 11597910 12832656
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.7119155313
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.4818724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013276 Stomach Ulcer Amiodarone 3.5918087811
MESH:D013610 Tachycardia Amiodarone 4.6211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.5219225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Amiodarone 13.5819731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.5812697716
MESH:D013964 Thyroid Neoplasms decitabine 3.5417967635
MESH:D013971 Thyrotoxicosis Amiodarone 5.2219584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.5911989578 17467628
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.5017616700 19087683
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.508653321 16712894 17572228
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014604 Uveal Neoplasms decitabine 5.3617785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
REACT:11044 Signaling by Rho GTPases
Pharmacogenomics Knowledge Base Top
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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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