AutismKB 2.0

Annotation Detail for CBLN2


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Basic Information Top
Gene Symbol:CBLN2 ( - )
Gene Full Name: cerebellin 2 precursor
Band: 18q22.3
Quick LinksEntrez ID:147381; OMIM: 600433; Uniprot ID:CBLN2_HUMAN; ENSEMBL ID: ENSG00000141668; HGNC ID: 1544
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
multiple sclerosis (severity)
IMMUNE
Desease Name
Multiple sclerosis (severity)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D003010 Clorgyline Clorgyline results in increased expression of CBLN2 mRNAincreases expression 19691856
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBLN2 mRNAaffects cotreatment|increases expression 17942748
D012402 Rotenone Rotenone results in decreased expression of CBLN2 mRNAdecreases expression 19013527
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBLN2 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 16120746 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717333356 15861022 11677210 16105132 17110522 16919318 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.248697196 16354765 15668235 12621046 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716354765 18606429 8697196 16959395 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009410 Nerve Degeneration Rotenone 4.1917356569 15790535 18619942
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010300 Parkinson Disease Rotenone 3.0915451049 19232380 11445065 18191903 11535288 16412576 16140633 18619942 19114014
MESH:D020734 Parkinsonian Disorders Rotenone 4.4715574749 15927086 18197244 15795934
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211222880 11118676 11896295 11399792
MESH:D011471 Prostatic Neoplasms Clorgyline 4.2319691856
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
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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