rs536681257, ATP1A3

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 GeneticVariation UNIPROT Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 24631656 2014
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 GeneticVariation UNIPROT Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 23409136 2013
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 GeneticVariation UNIPROT De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 22842232 2012
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 GeneticVariation UNIPROT Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 22850527 2012
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
0.800 CausalMutation CLINVAR
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
0.020 GeneticVariation BEFREE Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. 26463346 2016
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
0.020 GeneticVariation BEFREE Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. 26463346 2016
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
0.020 GeneticVariation BEFREE Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na(+),K(+)-ATPase α3 as I810S found in AHC. 23527305 2013
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
0.020 GeneticVariation BEFREE Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na(+),K(+)-ATPase α3 as I810S found in AHC. 23527305 2013