Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. 12045162 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease LHGDN Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. 12032359 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease LHGDN KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease UNIPROT KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 12086641 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease LHGDN We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease GENOMICS_ENGLAND We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease UNIPROT We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. 12163457 2002
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.010 Biomarker disease BEFREE We investigated the distribution of four genetic polymorphisms (angiotensin converting enzyme [ACE], methylenetetrahydrofolate reductase [MTHFR], apolipoprotein E [apo E], and paraoxonase [PON] genes) in 30 subjects with VaSA, 30 subjects with moderate carotid atherosclerosis (ATS group), and 161 controls with a negative history for cardiovascular disease. 12196500 2002
Entrez Id: 5444
Gene Symbol: PON1
PON1 		0.010 GeneticVariation disease BEFREE The frequency of PON 192 B allele was lower in VaSA patients (13%) compared with ATS patients (37%) and controls (46%) ( p =.06 and.006, respectively); B/B homozygotes were 27% in the ATS group, 12% in controls, and 0% in the VaSA group. 12196500 2002
Entrez Id: 3768
Gene Symbol: KCNJ12
KCNJ12 		0.010 Biomarker disease LHGDN Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. 12032359 2002
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.010 GeneticVariation disease BEFREE The frequency of the MTHFR thermolable + allele was higher in VaSA (0.51) compared with ATS (0.39) and controls (0.40) (VaSA vs C, p =.006). 12196500 2002
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). 12796536 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. 14522976 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. 12909315 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). 12796536 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 CausalMutation disease CLINVAR Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). 12796536 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		0.800 GeneticVariation disease BEFREE We performed clinical and molecular analyses of a patient with AS, and found a novel mutation (G215D) of KCNJ2. 12689820 2003