AutismKB 2.0

Annotation Detail for SH2D3C


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Basic Information Top
Gene Symbol:SH2D3C ( CHAT,FLJ39664,NSP3,PRO34088 )
Gene Full Name: SH2 domain containing 3C
Band: 9q34.11
Quick LinksEntrez ID:10044; OMIM: 604722; Uniprot ID:SH2D3_HUMAN; ENSEMBL ID: ENSG00000095370; HGNC ID: 16884
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SH2D3C mRNAdecreases expression 18648102
D001151 Arsenic Arsenic affects the expression of SH2D3C mRNAaffects expression 18414638
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SH2D3C mRNAaffects expression 17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SH2D3C mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D018246 Adrenocortical Adenoma Arsenic 5.9417306315
MESH:D020261 Arsenic Poisoning Arsenic 2.9512569548 16835338 18414634 16251483
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D050197 Atherosclerosis Arsenic 3.4619371607 12928151
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7817687452 15504454
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.293581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.2916507464 17306315
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7715504454 18922899 17687452
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.4718640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.7117938729 19152805 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.6818022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 15.129022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 15.1217681005 15861022 11677210 17110522 16105132 17333356 16919318
MESH:D002779 Cholestasis pirinixic acid 15.1219176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3514531868 12868966 8156756 18759878 11906362 11298694 8970840 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0418648102 7440962 18289764 6482804 9653073 8291058 18692083 6679447 9328219 11289319 1440618 16192314 9022650
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.9915345470
MESH:D005234 Fatty Liver pirinixic acid 8.9919236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005534 Foot Diseases Arsenic 6.286392382
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly pirinixic acid 3.5519176532 18467677 16221962 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.8517050553
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D006973 Hypertension Arsenic 2.999931084 11953799 16076760
MESH:D006987 Hypesthesia Arsenic 6.2816093927
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007642 Keratosis Arsenic 5.6216930632 12749816
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.7917339181
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4215034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Arsenic 2.6111134558
MESH:D008113 Liver Neoplasms Arsenic 5.0116368122
MESH:D008113 Liver Neoplasms pirinixic acid 5.0120007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.756587162 1399818 3712494 598648
MESH:D008175 Lung Neoplasms Arsenic 2.2117306315 17976673 19168569
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D017202 Myocardial Ischemia Arsenic 4.3115371236
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 8.196679447
MESH:D009436 Neural Tube Defects Arsenic 8.1916620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.8417056641
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.816482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010051 Ovarian Neoplasms Arsenic 2.8417306315
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.6816093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.6216905509 6392382 15371236
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011471 Prostatic Neoplasms Arsenic 3.5516140617
MESH:D011507 Proteinuria Arsenic 4.4721343184
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012871 Skin Diseases Arsenic 2.8218709164 17938729 16759981 17548696 6392382 17453740 16702368 17050553 16353154 15952646 19834688
MESH:D012878 Skin Neoplasms Arsenic 3.1617976673 15504454 16251483 19538983 17029826 17050553
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.196582329 1399818 6587162 7505956 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.638074119
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.6315987713 18640142 17976673 19429237 11144890 17306315 19322015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D014652 Vascular Diseases Arsenic 5.3717056641
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
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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