Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.540 Biomarker disease CTD_human
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		0.330 GeneticVariation disease ORPHANET
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.540 GeneticVariation disease BEFREE Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 15174025 2004
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.540 GermlineCausalMutation disease ORPHANET A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 15286158 2004
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.540 GeneticVariation disease BEFREE Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. 15534763 2004
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		0.330 GeneticVariation disease BEFREE A patient with episodic ataxia, seizures, migraine, and alternating hemiplegia has a heterozygous mutation in SLC1A3 that is not present in his asymptomatic parents and controls. 16116111 2005
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		0.330 GeneticVariation disease BEFREE Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. 17236110 2006
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.310 GeneticVariation disease ORPHANET These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. 18498393 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.310 GeneticVariation disease BEFREE These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. 18498393 2008
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		0.330 GeneticVariation disease BEFREE We broadened the clinical spectrum associated with SLC1A3 mutations to include milder manifestations of EA without seizures or alternating hemiplegia. 19139306 2009
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease MGD Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS. 19666602 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.040 GeneticVariation disease BEFREE Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). 21445818 2010
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease MGD Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+,K+-ATPase α3 sodium pump. 22025725 2011
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease CTD_human De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease GENOMICS_ENGLAND De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GeneticVariation disease BEFREE De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GermlineCausalMutation disease ORPHANET De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GeneticVariation disease BEFREE Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527 2012
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease GENOMICS_ENGLAND Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.040 GeneticVariation disease BEFREE Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. 22899793 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GeneticVariation disease BEFREE Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GeneticVariation disease BEFREE Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. 23527305 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 Biomarker disease BEFREE Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. 23681173 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.900 GeneticVariation disease BEFREE Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 24100174 2014