rs730882175, KCNH1

N. diseases: 3
Disease: Overgrowth ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 26818738 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 25711872 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 26264464 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 25420144 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice. 23424202 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). 18203178 2008
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. 9738473 1998