AutismKB 2.0

Annotation Detail for NHS


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Basic Information Top
Gene Symbol:NHS ( DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1 )
Gene Full Name: Nance-Horan syndrome (congenital cataracts and dental anomalies)
Band: Xp22.2-p22.13
Quick LinksEntrez ID:4810; OMIM: 300457; Uniprot ID:NHS_HUMAN; ENSEMBL ID: ENSG00000188158; HGNC ID: 7820
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Cataract, congenital, X-linked
Nance-Horan syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of NHS mRNAincreases expression 18687144
D002117 Calcitriol Calcitriol results in increased expression of NHS mRNAincreases expression 16002434
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of NHS mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of NHS mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9817688650 18396377 17157402 19232924 16609825 19460635 18775368 18558336 18177632 18985861 18940202 17507914 18316065 15238991 20603192
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D001943 Breast Neoplasms Calcitriol 2.5611237771
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7111237771
OMIM:302200 CATARACT, CONGENITAL, X-LINKED marker/mechanism
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 8888407 16575769
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2519641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.4415138306
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D005234 Fatty Liver Valproic Acid 3.7219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.6418558336 8888407
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.5817365036
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3118303189 16966607 16166281
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:C538336 Nance-Horan syndrome marker/mechanism
MESH:D009436 Neural Tube Defects Valproic Acid 3.3716359493 8888407
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.4510923243
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.4115572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4816289102 16644109 15754350 18247401 12479363
MESH:D019310 Pseudolymphoma Valproic Acid 5.2611422049 12752131
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1517365031 15814490 17322281 17975199
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.991511512 11738929 3137016 16876388 14763951 15475178 11044598 17978042
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
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