|
Malignant neoplasm of prostate
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In a heavily pretreated population of men with mCRPC, pembrolizumab was associated with a ≥50% PSA decline in 17% (8/48) of men, including a dramatic ≥90% PSA response in 8% (4/48), two of whom harbored pathogenic LRP1b mutations suggesting that LRP1b mutations may enrich for PD-1 inhibitor responsiveness in prostate cancer.
|
31270961 |
2019 |
|
Malignant neoplasm of prostate
|
0.310 |
Biomarker
|
disease |
CTD_human |
Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.
|
29662167 |
2018 |
|
Prostatic Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets.
|
29662167 |
2018 |
|
Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
melanoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
|
22197931 |
2011 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Chromophobe Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Sarcomatoid Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Collecting Duct Carcinoma of the Kidney
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Papillary Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Prostate carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.
|
31095341 |
2020 |
|
Schizophrenia
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
Prostate carcinoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In a heavily pretreated population of men with mCRPC, pembrolizumab was associated with a ≥50% PSA decline in 17% (8/48) of men, including a dramatic ≥90% PSA response in 8% (4/48), two of whom harbored pathogenic LRP1b mutations suggesting that LRP1b mutations may enrich for PD-1 inhibitor responsiveness in prostate cancer.
|
31270961 |
2019 |
|
Schizophrenia
|
0.110 |
Biomarker
|
disease |
BEFREE |
Three pedigrees demonstrated different missense substitutions within LRP1B, encoding a low-density lipoprotein receptor-related protein tied to both the NMDA receptor and located in a chromosome 2q22 region previously strongly linked to schizophrenia.
|
23553203 |
2013 |
|
Uveal melanoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
|
31626034 |
2020 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analyses of diverse populations improves discovery for complex traits.
|
31217584 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
Adverse effects, not elsewhere classified
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.
|
30420678 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Age at menarche
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
|
29844566 |
2018 |
|
Cortisol Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study.
|
29551627 |
2018 |
|
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study.
|
29551627 |
2018 |
|
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 |