AutismKB 2.0

Annotation Detail for KCNH4


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Basic Information Top
Gene Symbol:KCNH4 ( BEC2,ELK1,Kv12.3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 4
Band: 17q21.2
Quick LinksEntrez ID:23415; OMIM: 604528; Uniprot ID:KCNH4_HUMAN; ENSEMBL ID: ENSG00000089558; HGNC ID: 6253
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
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNH4 mRNAaffects expression 16483693
D000431 Ethanol Ethanol results in decreased expression of KCNH4 mRNAdecreases expression 15353170
D018038 Sodium Selenite Sodium Selenite results in decreased expression of KCNH4 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 4.6617676605 18926900
MESH:D000138 Acidosis Ammonium Chloride 13.0818287403
MESH:D000138 Acidosis Ethanol 13.0811192467
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 6.1915451040 15451039
MESH:D000853 Anophthalmos Ethanol 5.4715513904
MESH:D001008 Anxiety Disorders Ethanol 4.3711141031
MESH:D002056 Burns Ethanol 5.3016374292
MESH:D006528 Carcinoma, Hepatocellular Ethanol 2.4315763234 18788625 15289165
MESH:D006332 Cardiomegaly Ethanol 3.6519332462
MESH:D019457 Chromosome Breakage Sodium Selenite 5.4115894690
MESH:D002971 Cleft Lip Ethanol 3.7815513904
MESH:D002972 Cleft Palate Ethanol 3.3215513904
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3419302082 15451040 15451039 10194807 15513904 11873399 11198716
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1916285004
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.5411566570
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.5415131321
MESH:D004938 Esophageal Neoplasms Ethanol 2.8316704527
MESH:D005234 Fatty Liver Ethanol 4.2116409862 18620774 19236843
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.5317920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 6.0416946407 10194807 15451040 15513904
MESH:D005756 Gastritis Ethanol 5.5615046732
MESH:D006930 Hyperalgesia Ethanol 4.0818783367
MESH:D007333 Insulin Resistance Sodium Selenite 3.5414714311
MESH:D007569 Jaw Abnormalities Ethanol 4.8915513904
MESH:D007859 Learning Disorders Ethanol 4.8615451040
MESH:D017880 Limb Deformities, Congenital Ethanol 4.1217676605
MESH:D008103 Liver Cirrhosis Ethanol 3.5815289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.8418295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.3218166357
MESH:D008108 Liver Diseases, Alcoholic Ethanol 5.3017347304 17207112
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.5914737004
MESH:D008569 Memory Disorders Ethanol 4.7718411066 15451040
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0912384795
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3318760546
MESH:D012640 Seizures Ethanol 3.459754883
MESH:D013274 Stomach Neoplasms Ethanol 2.3118456281
MESH:D013276 Stomach Ulcer Ethanol 4.019211565 16755016 9562338 17918041 17189318 11906479
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.709754883
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