AutismKB 2.0

Annotation Detail for SHD


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Basic Information Top
Gene Symbol:SHD ( - )
Gene Full Name: Src homology 2 domain containing transforming protein D
Band: 19p13.3
Quick LinksEntrez ID:56961; OMIM: 610481; Uniprot ID:SHD_HUMAN; ENSEMBL ID: ENSG00000105251; HGNC ID: 30633
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SHD mRNAaffects binding|decreases expression|increases activity 19710929
D014635 Valproic Acid Valproic Acid results in decreased expression of SHD mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.378875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4819490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D000550 Amblyopia Valproic Acid 6.3017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9817497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818396377 17688650 19460635 18316065 20603192 16609825 18558336 17157402 15238991 18177632 19232924 17507914 18985861 18775368 18940202
MESH:D001714 Bipolar Disorder Valproic Acid 3.2820046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.698888407
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8420734317
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2719641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.661851702
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.923659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.9816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1418234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 4.067562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 5.067750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.953659116
MESH:D005234 Fatty Liver pirinixic acid 9.6120131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 9.6114986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.9616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.818888407 18558336
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7616221962 19176532 18467677 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.7517688650
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2116294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 15890375 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.3317228818
MESH:D008881 Migraine Disorders Valproic Acid 3.5318803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.588888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.4017596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.428888407 16359493
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.7120603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.6112752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0511044598 11738929 14763951 17978042 3137016 15475178 1511512 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1719490988
MESH:D013226 Status Epilepticus Valproic Acid 5.6112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.3017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.413119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.418888407
Pathway ID Pathway Name
KEGG:00981 Insect hormone biosynthesis
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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