AutismKB 2.0

Annotation Detail for CRB1


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Basic Information Top
Gene Symbol:CRB1 ( LCA8,RP12 )
Gene Full Name: crumbs homolog 1 (Drosophila)
Band: 1q31.3
Quick LinksEntrez ID:23418; OMIM: 604210; Uniprot ID:CRUM1_HUMAN; ENSEMBL ID: ENSG00000134376; HGNC ID: 2343
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Leber congenital amaurosis
Asthma
IMMUNE
No data
Desease Name
Leber congenital amaurosis 8
Pigmented paravenous chorioretinal atrophy
Retinitis pigmentosa-12, autosomal recessive
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C018021 cobaltous chloride cobaltous chloride results in increased expression of CRB1 mRNAincreases expression 20105288
C015329 lycopene lycopene results in decreased expression of CRB1 mRNAdecreases expression 16886892
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CRB1 mRNAaffects binding|decreases expression|increases activity 19710929
D014635 Valproic Acid Valproic Acid results in increased expression of CRB1 mRNAincreases expression 19101580
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:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818985861 18558336 18940202 17507914 18177632 15238991 17688650 18316065 16609825 20603192 18775368 17157402 19460635 18396377 19232924
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001766 Blindness marker/mechanism
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
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 17688650 16575769
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.5816823706 11298694 15059100
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2519641884 1733752
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 6254150 6426943
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:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5519772884 16221962 19176532 18467677
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9320007298 16377806 15890375
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008881 Migraine Disorders Valproic Acid 3.4718803445 18765137
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 lycopene 5.9617051425
MESH:D009369 Neoplasms pirinixic acid 5.9617405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.378888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D015418 Optic Atrophies, Hereditary marker/mechanism
OMIM:172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY marker/mechanism
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D011471 Prostatic Neoplasms lycopene 4.4715084515 17337101
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012162 Retinal Degeneration marker/mechanism
MESH:D012174 Retinitis Pigmentosa marker/mechanism 16272259
OMIM:600105 RETINITIS PIGMENTOSA 12 marker/mechanism
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9915475178 11738929 17978042 16876388 1511512 11044598 3137016 14763951
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
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26863
    • No data
    Releated disease ID Related disease Name
    PA443450Asthma
    No data
    Drug Bank 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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