| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | BEFREE | Both G144A, a reported ATS mutation, and V296F, a novel mutation, were identified in the KCNJ2 gene on the same allele from the proband and his mother, but not from his father. | 31669729 | 2019 |
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|
A | 0.720 | CausalMutation | CLINVAR | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. | 23595086 | 2013 |
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|
A | 0.720 | CausalMutation | CLINVAR | Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. | 22002906 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | Phenotype variability in patients carrying KCNJ2 mutations. | 22589293 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. | 20382953 | 2010 |
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|
0.720 | GeneticVariation | BEFREE | We identified and characterized two novel KCNJ2 mutations (c.220A>G/p.T74A and c.443G>C/p.G144A) associated with Andersen syndrome. | 16541386 | 2006 |
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|
A | 0.720 | CausalMutation | CLINVAR | Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. | 12909315 | 2003 |
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|
A | 0.720 | CausalMutation | CLINVAR | Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. | 14522976 | 2003 |
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|
A | 0.720 | CausalMutation | CLINVAR | Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). | 12163457 | 2002 |
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|
A | 0.720 | CausalMutation | CLINVAR | Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. | 11371347 | 2001 |