|
5q-syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Cross-reactivity with TRPM3 in the RPE may account for other visual symptoms that are experienced by some MAR patients such as retinal and RPE detachments.
|
28549093 |
2017 |
|
Age at menarche
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Age related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
|
26691988 |
2016 |
|
Amphetamine Abuse
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association for methamphetamine dependence: convergent results from 2 samples.
|
18316681 |
2008 |
|
Amphetamine Addiction
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association for methamphetamine dependence: convergent results from 2 samples.
|
18316681 |
2008 |
|
Amphetamine-Related Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome-wide association for methamphetamine dependence: convergent results from 2 samples.
|
18316681 |
2008 |
|
Ankylosing spondylitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Functional and bioinformatic analyses of single nucleotide polymorphism (SNP) identified functional classifications relevant to angiogenesis (Myo1e, Kif26b, Nprl3, Stab2, Fam105b), bone metabolism/calcification (Tle3, Tgfb2, Lipc, Nfe2l1, Ank, Fam105b), arthritis (Stab2, Tbx21, Map4k4, Hoxb9, Larp6, Col1a2, Adam10, Timp3, Nfe2l1, Trpm3), and ankylosing-spondylitis (Ank, Pon1, Il1r2, Tbkbp1) indicating that ectopic calcification involves multiple mechanisms.
|
25989359 |
2015 |
|
Aspirin exacerbated respiratory disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association of TRPM3 Polymorphism (rs10780946) and Aspirin-Exacerbated Respiratory Disease (AERD).
|
26891941 |
2016 |
|
Autistic behavior
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.
|
29156220 |
2017 |
|
Autistic behavior
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
|
31278393 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
|
23449627 |
2013 |
|
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 |
|
Carcinogenesis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
The promoter methylation rates of miR-204 in PTC were negatively correlated with the expression levels of miR-204 and its host gene <i>TRPM3.</i> Downregulated miR-204 expression was related to several important pathways and mechanisms involved in tumorigenesis and progression.
|
30799952 |
2019 |
|
Cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
At the same time, SRA01/04 cells do not exhibit robust expression of several genes known to be important to lens biology and cataract such as ALDH1A1, COL4A6, CP, CRYBA4, FOXE3, HMX1, HSF4, MAF, MEIS1, PITX3, PRX, SIX3, and TRPM3, among many others.
|
31479653 |
2019 |
|
Choroid Plexus Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
High expression of OTX2 as well as expression of Kir7.1/KCNJ13, TRPM3 and ENPP2, which have all previously been linked to either choroid plexus epithelium or choroid plexus tumors (CPTs), suggests a close histogenetic relation of this subgroup to CPTs.
|
28025236 |
2017 |
|
Chronic Fatigue Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
The objective of the present study was to characterise the TRPM3 ion channel function in NK cells from CFS/ME patients in comparison with healthy controls using whole cell patch-clamp techniques.
|
30134818 |
2018 |
|
Chronic Fatigue Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
We confirmed impaired TRPM3 function in ME/CFS patients through electrophysiological investigations in IL-2 stimulated NK cells after modulation with PregS and ononetin.
|
31736966 |
2019 |
|
Chronic Fatigue Syndrome
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Reduced TRPM3 protein expression has been identified in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) patients.
|
27727448 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
In this issue of Cancer Cell, Hall and colleagues describe a TRPM3-dependent autophagy pathway that is selectively important for clear cell renal cell carcinoma and can be effectively inhibited.
|
25517744 |
2014 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
TRPM3, a direct target of miR-204, is enhanced in ccRCC with inactivated or deleted VHL.
|
31646527 |
2020 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Here we establish, using shRNAs, a dominant-negative mutant, and a pharmacologic inhibitor, mefenamic acid (MFA), that the Transient Receptor Potential Melastatin 3 (TRPM3) channel promotes the growth of clear cell renal cell carcinoma (ccRCC) and stimulates MAP1LC3A (LC3A) and MAP1LC3B (LC3B) autophagy.
|
25517751 |
2014 |
|
Coronary Artery Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
|
30104761 |
2018 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy.
|
31278393 |
2019 |
|
Exudative age-related macular degeneration
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
|
26691988 |
2016 |