|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
|
29499166 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
|
30388404 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
|
29499166 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
|
29499166 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hypertensive disease
|
0.560 |
GeneticVariation
|
group |
BEFREE |
DNA-sequencing detected a 12-nucleotide long thymidine (12T) insertion(ins)/deletion(del) polymorphism within a poly-T sequence (38T vs 26T) in the ATP1A1 5'-regulatory region associated with hypertension in a male Sardinian population.
|
25615575 |
2015 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
CTD_human |
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
|
23416519 |
2013 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
BEFREE |
As hypertension susceptibility genes, coexpression of ATP1A1 and Dear in both renal tubular cells and vascular endothelium suggest a cellular pathogenic scaffold for polygenic mechanisms of hypertension, as well as the hypothesis that ATP1A1 and/or Dear could contribute to the known renal and vascular endothelial dysfunction associated with essential (polygenic) hypertension.
|
17446437 |
2007 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
LHGDN |
As hypertension susceptibility genes, coexpression of ATP1A1 and Dear in both renal tubular cells and vascular endothelium suggest a cellular pathogenic scaffold for polygenic mechanisms of hypertension, as well as the hypothesis that ATP1A1 and/or Dear could contribute to the known renal and vascular endothelial dysfunction associated with essential (polygenic) hypertension.
|
17446437 |
2007 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
LHGDN |
The highly conserved cardiac glycoside binding site of Na,K-ATPase plays a role in blood pressure regulation.
|
16243970 |
2005 |
|
Hypertensive disease
|
0.560 |
AlteredExpression
|
group |
LHGDN |
The alpha1-Na/K pump does not mediate the involvement of ouabain in the development of hypertension in rats.
|
11926353 |
2002 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
BEFREE |
Having recently identified the association of alpha1 Na,K-ATPase (ATP1A1) and Na,K,2Cl-cotransporter (NKCC2) as interacting hypertension susceptibility loci in both a rat model and human hypertensives, we investigated whether the thiazide-sensitive Na,Cl-cotransporter (TSC) gene contributes to hypertension susceptibility in a rat F2 intercross and in a northern Sardinian human cohort for polygenic hypertension.
|
11564973 |
2001 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
BEFREE |
Based on our observations that alpha(1)-Na,K-ATPase (ATP1A1) and renal-specific, bumetanide-sensitive Na,K,2Cl-cotransporter (NKCC2) genes interactively increase susceptibility to hypertension in the Dahl salt-sensitive hypertensive (Dahl S) rat model, we investigated whether parallel molecular genetic mechanisms might exist in human essential hypertension in a relatively genetic homogeneous cohort in northern Sardinia.
|
11509477 |
2001 |
|
Hypertensive disease
|
0.560 |
Biomarker
|
group |
RGD |
Confirmation of mutant alpha 1 Na,K-ATPase gene and transcript in Dahl salt-sensitive/JR rats.
|
8082931 |
1994 |
|
Hypomagnesemia
|
0.420 |
GeneticVariation
|
phenotype |
BEFREE |
Dominant mutations in ATP1A1, encoding the alpha-1 isoform of the Na<sup>+</sup> /K<sup>+</sup> -ATPase, have been recently reported to cause an axonal to intermediate type of Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures and severe intellectual disability.
|
31705535 |
2020 |
|
Hypomagnesemia
|
0.420 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
|
30388404 |
2018 |
|
Hypomagnesemia
|
0.420 |
GeneticVariation
|
phenotype |
BEFREE |
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
|
30388404 |
2018 |
|
Hypomagnesemia
|
0.420 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Hypomagnesemia, CTCAE
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
|
30388404 |
2018 |
|
Hypomagnesemia, CTCAE
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Adenoma
|
0.340 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations of ATP1A1, encoding the Na/K pump α1 subunit, have been found in these adenomas.
|
29030398 |
2017 |
|
Adenoma
|
0.340 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.
|
25496839 |
2015 |
|
Adenoma
|
0.340 |
GeneticVariation
|
group |
BEFREE |
Common somatic mutations in CACNAID and ATP1A1 may define a subgroup of smaller, zona glomerulosa (ZG)-like aldosterone-producing adenomas.
|
25776071 |
2015 |
|
Adenoma
|
0.340 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
|
23416519 |
2013 |
|
Adenoma
|
0.340 |
Biomarker
|
group |
CTD_human |
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
|
23913004 |
2013 |