AutismKB 2.0

Annotation Detail for CCM2


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Basic Information Top
Gene Symbol:CCM2 ( C7orf22,MGC4067,MGC4607,MGC74868,OSM )
Gene Full Name: cerebral cavernous malformation 2
Band: 7p13
Quick LinksEntrez ID:83605; OMIM: 607929; Uniprot ID:CCM2_HUMAN; ENSEMBL ID: ENSG00000136280; HGNC ID: 21708
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200014p38 MAPK signaling pathway
200054Regulation of p38-alpha and p38-beta
Pathway IDPathway Name
P00018EGF receptor signaling pathway
No data
Related Diseases/Disorders Top
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Desease Name
Cerebral cavernous malformations-2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CCM2 mRNAaffects expression 17562736
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of CCM2 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in increased expression of CCM2 mRNAincreases expression 18301758
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of CCM2 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8615238991 18985861 20603192 18177632 18558336 19232924 17507914 18775368 18316065 18940202 18396377 19460635 17157402 17688650 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1011529661 17906064 12392966 16177239 19416960 17522070 14550746 11421492 12153990 14725611 18713872 15968718 16393943 19085960 11461765 19739265 16485898 11287661 11739529 10915739 10663392 16781746 10774834 19923254 18071297 2444490 12540782 16109766 11743745 12594235 12705907 19164858 19370779 11834606 14986274 16081117 17562736 15619225 19420014 12958197 16227642
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.1019641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.713659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.967562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D005234 Fatty Liver pirinixic acid 9.1719236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 9.1719224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.648888407 18558336
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D020786 Hemangioma, Cavernous, Central Nervous System marker/mechanism 18154020
MESH:D006529 Hepatomegaly pirinixic acid 3.5518467677 16221962 19772884 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7012969438 19784758 16611625 19014921 16610002 12587719 19460945 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 1.9315890375 20007298 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.378888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2611422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9916876388 11044598 11738929 15475178 17978042 1511512 14763951 3137016
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
MESH:D014581 Urticaria Acetaminophen 3.4410982225
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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