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 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: 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 GermlineCausalMutation disease ORPHANET Genetics: Mutations in KCND3 linked to spinocerebellar ataxias. 22890214 2012
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 Biomarker disease BEFREE While it cannot be excluded that the genes lie in close approximation at this locus, it is more likely that the same gene is mutated in both the Dutch and Chinese families, and that SCA19 and SCA22 represent the same condition. 15895560 2005
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 CausalMutation disease CLINVAR
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease CTD_human
CUI: C1846367
Disease: Spinocerebellar ataxia 19
Spinocerebellar ataxia 19 		0.740 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND
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 CausalMutation disease CLINVAR
CUI: C4225340
Disease: BRUGADA SYNDROME 9
BRUGADA SYNDROME 9 		0.600 Biomarker disease CTD_human
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 Biomarker disease CLINGEN Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. 26016905 2015
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 Biomarker disease CLINGEN We aimed to screen the genes SCN1B through SCN4B, MOG1, CAV3, and KCND3 for variations in a population of SCN5A negative Danish and Iranian BrS patients, as well as research prior associations using newly released exome data. 22284586 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 Biomarker disease BEFREE Previously, the genes SCN1B, SCN3B, MOG1, and KCND3 have been associated with BrS. 22284586 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.560 Biomarker disease BEFREE Emerging evidence has linked perturbations in the transient outward current (I(to) ) conducted by the KCND3-encoded Kv4.3 pore-forming α-subunit to BrS or IVF. 22457051 2012