AutismKB 2.0

Annotation Detail for ACVR1


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Basic Information Top
Gene Symbol:ACVR1 ( ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI )
Gene Full Name: activin A receptor, type I
Band: 2q24.1
Quick LinksEntrez ID:90; OMIM: 102576; Uniprot ID:ACVR1_HUMAN; ENSEMBL ID: ENSG00000115170; HGNC ID: 171
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04350TGF-beta signaling pathway
hsa04060Cytokine-cytokine receptor interaction
No data
Pathway IDPathway Name
200138ALK2 signaling events
200126ALK1 signaling events
200024ALK1 pathway
Pathway IDPathway Name
P00052TGF-beta signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2074Asthma
No data
No data
Desease Name
Fibrodysplasia ossificans progressiva
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of ACVR1 mRNAincreases expression 18648102
D002713 Chlorine [Ozone co-treated with Chlorine] results in decreased expression of ACVR1 mRNAaffects cotreatment|decreases expression 18636392
D016572 Cyclosporine Cyclosporine results in increased expression of ACVR1 mRNAincreases expression 20106945
D001556 Lindane Lindane results in decreased expression of ACVR1 mRNAdecreases expression 17785943
D010126 Ozone [Ozone co-treated with Chlorine] results in decreased expression of ACVR1 mRNAaffects cotreatment|decreases expression 18636392
D010269 Paraquat Paraquat affects the expression of ACVR1 mRNAaffects expression 15206577
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ACVR1 mRNAaffects binding|increases activity|increases expression 19710929
D002762 Cholecalciferol Cholecalciferol results in increased expression of ACVR1 mRNAincreases expression 17170073
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury marker/mechanism 21297076
MESH:D055371 Acute Lung Injury Chlorine 10.0320601635
MESH:D055371 Acute Lung Injury pirinixic acid 10.0318653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.883712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8216434500
MESH:D000382 Agricultural Workers' Diseases Lindane 10.1212661182
MESH:D000382 Agricultural Workers' Diseases Paraquat 10.1211874814
MESH:D000544 Alzheimer Disease Ozone 2.4815513908
MESH:D001172 Arthritis, Rheumatoid Ozone 2.6015570426
MESH:D001249 Asthma Ozone 2.7017854713 16373670
MESH:D001327 Autoimmune Diseases Cholecalciferol 5.3416142846
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.401440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3919483382
MESH:D001943 Breast Neoplasms Lindane 3.2014688026
MESH:D016535 Bronchial Hyperreactivity Ozone 3.8715516495 14754758 18315731 19059883 18417511 17626835 16777450
MESH:D002100 Cachexia Ozone 5.0816183385
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.773581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.777296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.107505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1012371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.4219486331 9022650
MESH:D002779 Cholestasis Cyclosporine 14.4219486331
MESH:D002779 Cholestasis pirinixic acid 14.4219176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1018759878 8156756 2524372 11906362 14531868 12868966 8970840 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.752952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.011440618 9022650 9328219 18648102 16192314 18289764 6679447 7440962 18692083 9653073 8291058 11289319 6482804
MESH:D004417 Dyspnea Chlorine 5.0020016425
MESH:D004487 Edema pirinixic acid 2.7212083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005234 Fatty Liver Cyclosporine 8.3819224547
MESH:D005234 Fatty Liver pirinixic acid 8.3820131406 19236843
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.406705139
MESH:D005355 Fibrosis Cyclosporine 3.4512168785 12639820
MESH:D005739 Gas Poisoning Chlorine 5.3920016425
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D005911 Gliosis Paraquat 5.5411124998
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.307505956
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.796705139
MESH:D006529 Hepatomegaly pirinixic acid 3.3016221962 19772884 19176532 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2515034207
MESH:D006973 Hypertension Cyclosporine 2.1710903974
MESH:D007248 Infertility, Male Paraquat 3.404850670
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.408074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.956582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.9512371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.339327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Lindane 3.141715830
MESH:D008113 Liver Neoplasms pirinixic acid 1.8915890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.67598648 6587162 1399818 3712494
MESH:D008171 Lung Diseases Ozone 3.538266340 19066396
MESH:D055370 Lung Injury Ozone 4.1520417186
MESH:D008175 Lung Neoplasms Ozone 2.107614698 8597069
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D008679 Metaplasia Ozone 5.4810496685
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009221 Myositis Ossificans marker/mechanism
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.553581430
MESH:D009369 Neoplasms Lindane 5.6112807735 16818664
MESH:D009369 Neoplasms pirinixic acid 5.6117405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009410 Nerve Degeneration Paraquat 3.9016893418
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.066679447
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.654026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.403988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.797296757
MESH:D010300 Parkinson Disease Paraquat 2.8916510128 16140633 15824117 11181820 15451049 11124998 12911755 11445065
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.7416190885
MESH:D010538 Peritonitis Ozone 4.4416369182
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.856228378
MESH:D011014 Pneumonia Ozone 12.2218929643 18381685 18007984
MESH:D011014 Pneumonia Paraquat 12.2212504350
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011471 Prostatic Neoplasms Cholecalciferol 3.9117024972
MESH:D011471 Prostatic Neoplasms Lindane 3.9114688026 12661182
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011658 Pulmonary Fibrosis Paraquat 2.9916324872 17997886
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D012120 Respiration Disorders Chlorine 5.5918579056
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.1711700416
MESH:D012135 Respiratory Sounds Paraquat 4.3611874814
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 9.503692021
MESH:D012162 Retinal Degeneration Paraquat 9.5016458197
MESH:D012640 Seizures Lindane 3.7715475178 7539098 12842176
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.066582329 1399818 6587162 7505956 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.358074119
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
KEGG:04350 TGF-beta signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24492
    • No data
    Releated disease ID Related disease Name
    PA444367Heart Defects, Congenital
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00171 - Adenosine triphosphate Dietary supplement;Micronutrient
    DB08597 - 6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine
    No data
    No data
    No data

    Simple Query:


      (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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