AutismKB 2.0

Annotation Detail for DGCR2


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Basic Information Top
Gene Symbol:DGCR2 ( DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12 )
Gene Full Name: DiGeorge syndrome critical region gene 2
Band: 22q11.21
Quick LinksEntrez ID:9993; OMIM: 600594; Uniprot ID:IDD_HUMAN; ENSEMBL ID: ENSG00000070413; HGNC ID: 2845
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2069Schizophrenia
Desease Name
PSYCH
schizophrenia
No data
Desease Name
DiGeorge syndrome/velocardiofacial syndrome complex-2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of DGCR2 mRNAdecreases expression 18648102
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 decreased expression of DGCR2 mRNAdecreases expression 19150397
C006780 bisphenol A bisphenol A affects the expression of DGCR2 mRNAaffects expression 20170705
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of DGCR2 mRNAincreases expression 17949056
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 14514962 11752688
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
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:D001862 Bone Resorption bisphenol A 4.2911985600
MESH:D001943 Breast Neoplasms bisphenol A 2.0217123778
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002278 Carcinoma in Situ bisphenol A 5.6217123778
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.537505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.5320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4419486331 9022650
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3514531868 11906362 2524372 8970840 12868966 11298694 8156756 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.009328219 16192314 18648102 18289764 11289319 1440618 6482804 9022650 7440962 18692083 6679447 8291058 9653073
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.653581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6520426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 16959395 8697196 18606429 16354765
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007333 Insulin Resistance bisphenol A 3.5316393666
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.506587162 3712494 598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009421 Nervous System Malformations bisphenol A 11.3216427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.3214600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010049 Ovarian Diseases bisphenol A 5.6211985600
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 11.7010548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.7011896295 11118676 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.6320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3416740699
MESH:D011629 Puberty, Precocious bisphenol A 5.4210548101
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D019966 Substance-Related Disorders bisphenol A 4.6116045194 16684133
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.196587162 6582329 1399818 7505956 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
MESH:D014591 Uterine Diseases bisphenol A 5.7314652134
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
No data
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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