rs746795369, ATP1A2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 GeneticVariation UNIPROT A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834 2014
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 GeneticVariation UNIPROT Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy. 23838748 2013
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 GeneticVariation UNIPROT Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. 21352219 2011
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 GeneticVariation UNIPROT Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 12953268 2003
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
0.700 GeneticVariation UNIPROT Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. 12539047 2003
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
0.010 GeneticVariation BEFREE We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation (R1007W). 23838748 2013
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
0.010 GeneticVariation BEFREE Mutational analysis revealed a heterozygous nucleotide substitution c.3019C>T resulting in the missense substitution p.Arg1007Trp (p.R1007W) in seven subjects: Three individuals had hemiplegic migraine, two exhibited a clinical overlap between migraine and epilepsy, one had migraine and one was unaffected. 23838748 2013
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.010 GeneticVariation BEFREE We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation (R1007W). 23838748 2013
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.010 GeneticVariation BEFREE Mutational analysis revealed a heterozygous nucleotide substitution c.3019C>T resulting in the missense substitution p.Arg1007Trp (p.R1007W) in seven subjects: Three individuals had hemiplegic migraine, two exhibited a clinical overlap between migraine and epilepsy, one had migraine and one was unaffected. 23838748 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE Our data also support the hypothesis that the new mutation R1007W in our family may be a susceptibility factor for epilepsy. 23838748 2013