AutismKB 2.0

Annotation Detail for SH2D1B


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Basic Information Top
Gene Symbol:SH2D1B ( EAT2 )
Gene Full Name: SH2 domain containing 1B
Band: 1q23.3
Quick LinksEntrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04650Natural killer cell mediated cytotoxicity
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001151 Arsenic Arsenic affects the expression of SH2D1B mRNAaffects expression 18414638
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D018246 Adrenocortical Adenoma Arsenic 6.6317306315
MESH:D020261 Arsenic Poisoning Arsenic 2.9718414634 16835338 12569548 16251483
MESH:D050197 Atherosclerosis Arsenic 3.5312928151 19371607
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.8515504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 2.3316507464 17306315
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.8018922899 17687452 15504454
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.6518640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.8115738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.8418022660 16973168
MESH:D005534 Foot Diseases Arsenic 6.986392382
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 5.0317050553
MESH:D006973 Hypertension Arsenic 3.0216076760 11953799 9931084
MESH:D006987 Hypesthesia Arsenic 6.9816093927
MESH:D007642 Keratosis Arsenic 6.0816930632 12749816
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.8817339181
MESH:D008107 Liver Diseases Arsenic 2.6311134558
MESH:D008113 Liver Neoplasms Arsenic 2.8316368122
MESH:D008175 Lung Neoplasms Arsenic 2.2119168569 17976673 17306315
MESH:D017202 Myocardial Ischemia Arsenic 4.4415371236
MESH:D009436 Neural Tube Defects Arsenic 3.7816620997
MESH:D020078 Neurogenic Inflammation Arsenic 5.0717056641
MESH:D010051 Ovarian Neoplasms Arsenic 2.8617306315
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.9616093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 6.086392382 16905509 15371236
MESH:D011471 Prostatic Neoplasms Arsenic 3.5316140617
MESH:D011507 Proteinuria Arsenic 4.7021343184
MESH:D012871 Skin Diseases Arsenic 2.8417050553 15952646 17548696 16702368 17938729 17453740 19834688 16353154 18709164 6392382 16759981
MESH:D012878 Skin Neoplasms Arsenic 3.2117976673 16251483 17029826 17050553 19538983 15504454
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.9719322015 17306315 15987713 18640142 17976673 19429237 11144890
MESH:D014652 Vascular Diseases Arsenic 5.8217056641
Pathway ID Pathway Name
KEGG:04650 Natural killer cell mediated cytotoxicity
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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