AutismKB 2.0

Annotation Detail for MYO1A


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Basic Information Top
Gene Symbol:MYO1A ( BBMI,DFNA48,MIHC,MYHL )
Gene Full Name: myosin IA
Band: 12q13.3
Quick LinksEntrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
P00044Nicotinic acetylcholine receptor signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1862Conduct disorder
2207Deafness
No data
No data
Desease Name
Deafness, autosomal dominant 48
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MYO1A mRNAaffects expression 16483693
D001205 Ascorbic Acid [Quercetin co-treated with Ascorbic Acid] results in decreased expression of MYO1A mRNAaffects cotreatment|decreases expression 17639512
D011794 Quercetin [Quercetin co-treated with Ascorbic Acid] results in decreased expression of MYO1A mRNAaffects cotreatment|decreases expression 17639512
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000743 Anemia, Hemolytic Quercetin 4.7217084956
MESH:D001260 Ataxia Telangiectasia Quercetin 5.7215336622
MESH:D001327 Autoimmune Diseases Quercetin 5.0619761891
MESH:D001943 Breast Neoplasms Ascorbic Acid 2.6116443354
MESH:D001943 Breast Neoplasms Quercetin 2.6118628248
MESH:D002105 Cadmium Poisoning Quercetin 6.4116962696
MESH:D006528 Carcinoma, Hepatocellular Quercetin 2.3112508355 19519916
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.6117234771
MESH:D006332 Cardiomegaly Quercetin 3.5319794523
MESH:D003110 Colonic Neoplasms Quercetin 2.4719440933 11134977 19056647 17148506 16640504 15741050 17191121
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918852136 18095365
MESH:D003139 Common Cold Ascorbic Acid 6.3417323712
OMIM:607841 DEAFNESS, AUTOSOMAL DOMINANT 48 marker/mechanism
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 4.1219496084
MESH:D003924 Diabetes Mellitus, Type 2 Ascorbic Acid 3.1716506275
MESH:C538011 Eales disease Ascorbic Acid 6.349068938
MESH:D005355 Fibrosis Quercetin 4.5519474275
MESH:D005909 Glioblastoma Quercetin 3.6619804834
MESH:D005910 Glioma Quercetin 3.1917643826
MESH:D006330 Heart Defects, Congenital Ascorbic Acid 3.9616080930
MESH:D006548 Hernia, Diaphragmatic Ascorbic Acid 3.5916490937 16863852
MESH:D006943 Hyperglycemia Quercetin 4.4818262572 11834736
MESH:D006973 Hypertension Quercetin 2.9818356687
MESH:D007251 Influenza, Human Quercetin 5.3716624496
MESH:D007627 Keloid Quercetin 5.6117086741
MESH:D007674 Kidney Diseases Quercetin 3.3216962696
MESH:D007938 Leukemia Quercetin 3.3417468513
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 2.2012741479
MESH:D008113 Liver Neoplasms Quercetin 2.7918980244
MESH:D008114 Liver Neoplasms, Experimental Ascorbic Acid 7.3018544905
MESH:D008114 Liver Neoplasms, Experimental Quercetin 7.3019519916
MESH:D008171 Lung Diseases Ascorbic Acid 4.2316863852
MESH:D008175 Lung Neoplasms Ascorbic Acid 3.0416401635
MESH:D008175 Lung Neoplasms Quercetin 3.0416280456
MESH:D009203 Myocardial Infarction Quercetin 3.1319595682
MESH:D015428 Myocardial Reperfusion Injury Quercetin 4.1419207477
MESH:D009369 Neoplasms Quercetin 2.9715185748
MESH:D020078 Neurogenic Inflammation Quercetin 4.8917929310
MESH:D009765 Obesity Ascorbic Acid 3.2217217161
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.7519495926
MESH:D010051 Ovarian Neoplasms Quercetin 2.8319005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9716965848
MESH:D011230 Precancerous Conditions Quercetin 4.4019056647
MESH:D011471 Prostatic Neoplasms Quercetin 3.5317292933 14715546
MESH:D011657 Pulmonary Eosinophilia Ascorbic Acid 6.2014606601
MESH:D012174 Retinitis Pigmentosa Ascorbic Acid 3.4016849425
MESH:D012554 Schistosomiasis japonica Quercetin 6.4116862918
MESH:D012871 Skin Diseases Ascorbic Acid 3.2918709164
MESH:D013276 Stomach Ulcer Ascorbic Acid 4.3718726076
MESH:D020521 Stroke Ascorbic Acid 4.6616517955 16403987
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.9416720314
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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