|
Seizures
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Global developmental delay
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Poor school performance
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Amphetamine-Related Disorders
|
0.300 |
Biomarker
|
group |
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 Abuse
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association for methamphetamine dependence: convergent results from 2 samples.
|
18316681 |
2008 |
|
Rheumatoid Arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The objective of this study was to investigate the potential relevance of Transient Receptor Potential Melastatin 3 (TRPM3) channel to fibroblast-like synoviocytes (FLSs) of patients with rheumatoid arthritis.
|
20525329 |
2010 |
|
Longevity
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Joint influence of small-effect genetic variants on human longevity.
|
20834067 |
2010 |
|
Longevity
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Joint influence of small-effect genetic variants on human longevity.
|
20834067 |
2010 |
|
Hyperalgesia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
TRPM3-deficient mice exhibited clear deficits in their avoidance responses to noxious heat and in the development of inflammatory heat hyperalgesia.
|
21555074 |
2011 |
|
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 |
|
Hypertrophic Cardiomyopathy
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RT-PCR analysis revealed a trend towards TRPM3 upregulation in HCM compared with donor myocardium (fold change 2.3, p=0.078).
|
24083979 |
2013 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1).
|
24292195 |
2013 |
|
Glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we have identified a new locus for inherited cataract and high-tension glaucoma with variable anterior segment defects, and characterized an underlying mutation in the gene coding for transient receptor potential cation channel, subfamily M, member-3 (TRPM3, melastatin-2).
|
25090642 |
2014 |
|
Patent ductus arteriosus
|
0.010 |
Biomarker
|
disease |
BEFREE |
Pregnenolone sulfate stimulation of TRPM3 induced rat DA constriction ex vivo and in vivo.
|
25190043 |
2014 |
|
Hyposmolality syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
The hypoosmotic sensor transient receptor potential melastatin 3 (TRPM3) was highly expressed in the rat DA, and TRPM3 silencing abolished the Ca(2+) response to hypoosmolality.
|
25190043 |
2014 |
|
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 |
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 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Besides recurrent focal chromosomal gains common to all choroid plexus tumors, including chromosome 14q21-q22 (harboring OTX2), chromosome 7q22 (LAMB1), and chromosome 9q21.12 (TRPM3), Genomic Identification of Significant Targets in Cancer analysis uncovered focal alterations specific for papillomas and atypical papillomas (e.g.
|
25575132 |
2015 |
|
Papilloma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Besides recurrent focal chromosomal gains common to all choroid plexus tumors, including chromosome 14q21-q22 (harboring OTX2), chromosome 7q22 (LAMB1), and chromosome 9q21.12 (TRPM3), Genomic Identification of Significant Targets in Cancer analysis uncovered focal alterations specific for papillomas and atypical papillomas (e.g.
|
25575132 |
2015 |
|
Primary malignant neoplasm
|
0.010 |
Biomarker
|
group |
BEFREE |
Besides recurrent focal chromosomal gains common to all choroid plexus tumors, including chromosome 14q21-q22 (harboring OTX2), chromosome 7q22 (LAMB1), and chromosome 9q21.12 (TRPM3), Genomic Identification of Significant Targets in Cancer analysis uncovered focal alterations specific for papillomas and atypical papillomas (e.g.
|
25575132 |
2015 |
|
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 |
|
Smoking
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.
|
26053186 |
2015 |
|
Smoking Behaviors
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.
|
26053186 |
2015 |