|
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 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
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 |
|
Child Development Disorders, Pervasive
|
0.100 |
GeneticVariation
|
group |
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 |
|
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 |
|
Respiratory Function Tests
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
|
22837378 |
2012 |
|
Narcolepsy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association database developed in the Japanese Integrated Database Project.
|
19629137 |
2009 |
|
blood phenylalanine measurement by Guthrie microbiologic assay
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
|
19043545 |
2008 |
|
Serum albumin measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
|
19043545 |
2008 |
|
Prelingual sensorineural hearing impairment
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the eye
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
|
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 |
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 |
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 |