AutismKB 2.0

Annotation Detail for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.33
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C055656 8-((4-chlorophenyl)thio)cyclic-3',5'-GMP 8-((4-chlorophenyl)thio)cyclic-3',5'-GMP results in increased activity of [SCNN1A binds to SCNN1B binds to SCNN1G binds to SCNN1D]affects binding|increases activity 19359370
C090860 8-(4-chlorophenylthio)guanosine 3',5'-cyclic monophosphorothioate 8-(4-chlorophenylthio)guanosine 3',5'-cyclic monophosphorothioate results in increased activity of [SCNN1A binds to SCNN1B binds to SCNN1G binds to SCNN1D]affects binding|increases activity 19359370
D000584 Amiloride Amiloride results in decreased activity of [SCNN1A binds to SCNN1B binds to SCNN1G binds to SCNN1D]affects binding|decreases activity 19359370
D012964 Sodium [SCNN1A protein binds to SCNN1B protein binds to SCNN1G protein binds to SCNN1D protein] which results in increased transport of Sodiumaffects binding|increases transport 19359370
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002295 Carcinoma, Transitional Cell Amiloride 5.4714644129
MESH:D003092 Colitis Amiloride 5.6712065299
MESH:D006130 Growth Disorders Amiloride 4.9919703807
MESH:D006973 Hypertension Amiloride 3.9919344079 18524855 15174897
MESH:D020514 Hypokalemic Periodic Paralysis Amiloride 6.4819822448
MESH:D007249 Inflammation Amiloride 3.9917237260
MESH:D056929 Liddle Syndrome Amiloride 6.5319344079
MESH:D009361 Neoplasm Invasiveness Amiloride 5.8114644129
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00384 antagonist Riva-Zide 50/25mg Tablets Diuretics;Potassium-sparing Diuretics
DB00594 blocker Riva-Amilzide 5/50 mg Sodium channel blockers;Diuretics
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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