AutismKB 2.0

Annotation Detail for OPHN1


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Basic Information Top
Gene Symbol:OPHN1 ( ARHGAP41,MRX60,OPN1 )
Gene Full Name: oligophrenin 1
Band: Xq12
Quick LinksEntrez ID:4983; OMIM: 300127; Uniprot ID:OPHN1_HUMAN; ENSEMBL ID: ENSG00000079482; HGNC ID: 8148
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by Rho GTPases
Pathway IDPathway Name
200050Regulation of RhoA activity
Pathway IDPathway Name
P00047PDGF signaling pathway
No data
Related Diseases/Disorders Top
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Desease Name
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of OPHN1 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of OPHN1 mRNAincreases expression 19774075
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of OPHN1 mRNAincreases expression 19150397
C051890 irinotecan irinotecan analog results in increased expression of OPHN1 mRNAincreases expression 18927307
D012402 Rotenone Rotenone results in increased expression of OPHN1 mRNAincreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1518057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.1618651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.2719483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9919225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.6218974383
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9620889678
MESH:D003110 Colonic Neoplasms irinotecan 2.6417725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3617159606 16391804 18509181 18259882 17454858 15273666 16303861
OMIM:304110 CRANIOFRONTONASAL SYNDROME marker/mechanism 17941886
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1516109766 18713872 12705907 12392966 16081117 19923254 19085960 10915739 16781746 2444490 19164858 15619225 11461765 10774834 19370779 12540782 17906064 11529661 17562736 14550746 16393943 12153990 15968718 19420014 14725611 11743745 16227642 10663392 17522070 11739529 16485898 11287661 14986274 19739265 12594235 11421492 16177239 18071297 19416960 12958197 11834606
MESH:D056486 Drug-Induced Liver Injury Amiodarone 4.1515265979 18218290
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver Amiodarone 3.8914986274
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006529 Hepatomegaly Amiodarone 4.2315265979
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.258137927 9751232
MESH:D007037 Hypothyroidism Amiodarone 5.0018020914 17991464
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D008064 Lipidoses Amiodarone 3.7615342952 17567588
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 16610002 19014921 12587719 12969438 16611625 19784758 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008133 Long QT Syndrome Amiodarone 3.8511989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.6012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0918516814
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D038901 Mental Retardation, X-Linked marker/mechanism 17941886
MESH:C537456 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance marker/mechanism
MESH:D052016 Mucositis irinotecan 5.5517159606
MESH:D009181 Mycoses Amiodarone 5.5117974566 12754197
MESH:D009362 Neoplasm Metastasis irinotecan 3.2818259882
MESH:D009410 Nerve Degeneration Rotenone 4.1518619942 15790535 17356569
MESH:D009447 Neuroblastoma irinotecan 3.648761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D017599 Neuroectodermal Tumors irinotecan 5.278761367
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010300 Parkinson Disease Rotenone 3.0819232380 11445065 18619942 15451049 16140633 11535288 18191903 19114014 16412576
MESH:D020734 Parkinsonian Disorders Rotenone 4.4215574749 18197244 15927086 15795934
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9612490602 11597910 12832656
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.6218724381
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D013276 Stomach Ulcer Amiodarone 3.6818087811
MESH:D013610 Tachycardia Amiodarone 4.7311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.6319225199
MESH:D013959 Thyroid Diseases Amiodarone 5.3719731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.3418020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.7311989578 17467628
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
REACT:11044 Signaling by Rho GTPases
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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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