|
Congenital absent nipple
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Homozygous truncating PTPRF mutation causes athelia.
|
24781087 |
2014 |
|
Congenital absent nipple
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous truncating PTPRF mutation causes athelia.
|
24781087 |
2014 |
|
Congenital absent nipple
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
|
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Congenital absence of breast with absent nipple
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region.
|
24781087 |
2014 |
|
Congenital absence of breast with absent nipple
|
0.310 |
Biomarker
|
disease |
BEFREE |
Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region.
|
24781087 |
2014 |
|
Malignant mesothelioma
|
0.300 |
Biomarker
|
disease |
CTD_human |
MicroRNA and mRNA features of malignant pleural mesothelioma and benign asbestos-related pleural effusion.
|
25756049 |
2015 |
|
Malignant neoplasm of stomach
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
|
Stomach Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
|
Disease Exacerbation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
|
Hereditary Diffuse Gastric Cancer
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
|
Obesity
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance.
|
15150650 |
2004 |
|
Obesity
|
0.210 |
Biomarker
|
disease |
RGD |
These changes in PTPase activity were associated with an increase in specific immunoreactivity of leukocyte common antigen-related PTPase ([LAR] by 42% and 50%), PTPase 1B (by 61% and 69%), and the SHZ domain containing PTPase (SH-PTP2) (by 44% and 48%) in the solubilized-particulate fraction of obese and diabetic animals, respectively (P < .05).
|
7666792 |
1995 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
|
29326435 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The present study reported a PPARγ consensus binding site (AGGTCA) in the ptprf promoter and identified a strong association between PPARγ and PTPRF expression, as well as their tumor suppressor roles in a v-Ha-Ras-induced model of breast cancer.
|
31799666 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Pasireotide LAR was stopped after >10 years due to low IGF-1 and he maintained hormonal control without tumor regrowth for >12 months off pasireotide LAR.
|
30851160 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Pasireotide LAR has modest in vivo efficacy and the combination of everolimus and pasireotide LAR achieve greater tumor growth inhibition than each agent alone in TPC-1 xenograft model of thyroid cancer (p = 0.048).
|
30807575 |
2019 |
|
Uric acid measurement (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
|
31578528 |
2019 |
|
Attention deficit hyperactivity disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.
|
30610198 |
2019 |
|
Attention deficit hyperactivity disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.
|
30478444 |
2019 |
|
Cannabis use
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.
|
30610198 |
2019 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
|
29844566 |
2018 |
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
|
29942086 |
2018 |