|
Deafness, Autosomal Recessive 12
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
|
17234811 |
2007 |
|
Deafness, Autosomal Recessive 12
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Bipolar Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies 30 loci associated with bipolar disorder.
|
31043756 |
2019 |
|
Narcolepsy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association database developed in the Japanese Integrated Database Project.
|
19629137 |
2009 |
|
Schizophrenia
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
|
28540026 |
2017 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
|
26252872 |
2015 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Prelingual sensorineural hearing impairment
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Malignant neoplasm of breast
|
0.070 |
Biomarker
|
disease |
BEFREE |
These studies provide evidence that PMCA2 inhibitors could sensitize PMCA2-positive breast cancers to cell death initiators that work through mechanisms involving the Bcl-2 survival pathway.
|
27613092 |
2016 |
|
Malignant neoplasm of breast
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
Our results also indicate that breast cancer cell lines can express mRNAs for a variety PMCA isoforms.
|
12359307 |
2002 |
|
Malignant neoplasm of breast
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
Therefore, we examined ezrin expression and its relationship with HER2, NHERF1, and PMCA2 levels in murine and human breast cancers.
|
30463939 |
2019 |
|
Malignant neoplasm of breast
|
0.070 |
Biomarker
|
disease |
BEFREE |
These results demonstrate that NHERF1 acts with PMCA2 to regulate HER2 signaling and membrane retention in breast cancers.
|
28235801 |
2017 |
|
Malignant neoplasm of breast
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
PMCA2 mRNA levels are also a potential tool in identifying poor responders to therapy in women with Basal breast cancer.
|
27148852 |
2016 |
|
Malignant neoplasm of breast
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the regulation of PMCA2 membrane localization and activity in breast cancer cells requires its interaction with the PDZ domain-containing scaffolding molecule sodium-hydrogen exchanger regulatory factor (NHERF) 1.
|
31087002 |
2019 |
|
Malignant neoplasm of breast
|
0.070 |
Biomarker
|
disease |
BEFREE |
Recent studies associate alterations in calcium transporter expression with tumourigenesis, such as changes in specific isoforms of the plasma membrane calcium ATPase (PMCA) in breast cancer cell lines.
|
17321497 |
2007 |
|
Breast Carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
PMCA2 mRNA levels are also a potential tool in identifying poor responders to therapy in women with Basal breast cancer.
|
27148852 |
2016 |
|
Breast Carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Recent studies associate alterations in calcium transporter expression with tumourigenesis, such as changes in specific isoforms of the plasma membrane calcium ATPase (PMCA) in breast cancer cell lines.
|
17321497 |
2007 |
|
Breast Carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Despite the lack of effect on global calcium responses, PMCA2 silencing augmented Bcl-2 inhibitor (ABT-263)-mediated MDA-MB-231 breast cancer cell death.
|
27613092 |
2016 |
|
Breast Carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the regulation of PMCA2 membrane localization and activity in breast cancer cells requires its interaction with the PDZ domain-containing scaffolding molecule sodium-hydrogen exchanger regulatory factor (NHERF) 1.
|
31087002 |
2019 |
|
Breast Carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Our results also indicate that breast cancer cell lines can express mRNAs for a variety PMCA isoforms.
|
12359307 |
2002 |
|
Autistic Disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in ATP2B2 and autism in 427 autism trios of Han Chinese descent.
|
23620727 |
2013 |
|
Autistic Disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results provide converging evidence for an association between ATP2B2 gene variants and autism in male subjects, spurring interest into the identification of functional variants, most likely involved in the homeostasis of Ca2+ signaling.
|
21757185 |
2011 |
|
Diabetes
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Heterozygous inactivation of PMCA2 leads to apparented, though not completely similar results.These provide 2 unique models for the prevention and treatment of β-cell dysfunction in diabetes and following islet transplantation.
|
28780165 |
2018 |
|
Diabetes
|
0.020 |
Biomarker
|
disease |
BEFREE |
Na(+)/Ca (2+) exchange and the plasma membrane Ca(2+)-ATPase in β-cell function and diabetes.
|
23224897 |
2013 |