Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. 25854634 2015
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease CLINVAR
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function. 23280838 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT Mutations in KCND3 cause spinocerebellar ataxia type 22. 23280837 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function. 23280838 2012
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease UNIPROT Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. 28895081 2018
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 GeneticVariation disease BEFREE Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3. 29527639 2018
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.600 GeneticVariation disease UNIPROT Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 22457051 2012
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.600 GeneticVariation disease UNIPROT Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 21349352 2011
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.600 GeneticVariation disease CLINVAR
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 GeneticVariation disease BEFREE However, the clinical profile was different: sudden death at 20 years old without any medical history of neurological disorders, nor with any diseases typically caused by KCND3 pathogenic variants such as Brugada syndrome, spinocerebellar ataxia type 19/22 or ataxia accompanied by epilepsy. 30776697 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 GeneticVariation disease BEFREE Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome. 27287695 2016
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 GeneticVariation disease BEFREE Comprehensive mutational analysis of KCND3-encoded Kv4.3 (I(to)) was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and direct sequencing of DNA derived from 86 unrelated BrS1-8 genotype-negative BrS patients. 21349352 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.410 GeneticVariation disease BEFREE Our study discovered variants in the HAND2, KCND3 and NEBL genes, which are relevant to atrial fibrillation susceptibility. 28416822 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.410 GeneticVariation disease GWASCAT Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.410 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.410 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.320 GeneticVariation phenotype BEFREE This information should facilitate the systematic screening of KCND2 and KCND3 exons for mutations in (inherited) arrhythmia syndromes, such as LQTS and Brugada. 10942109 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.110 GeneticVariation disease BEFREE We identified a de novo KCND3 mutation causing the most marked change in Kv4.3's channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype. 26189493 2015
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 GeneticVariation disease BEFREE We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. 23280837 2012
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Genetic determinants of P wave duration and PR segment. 24850809 2014
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. 30679814 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. 24785509 2014