Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2237660
Disease: exudative macular degeneration
exudative 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
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.300 Biomarker phenotype GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.300 Biomarker phenotype GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
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
CUI: C0017601
Disease: Glaucoma
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C0020429
Disease: Hyperalgesia
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0268005
Disease: Hyposmolality syndrome
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 GeneticVariation group BEFREE We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy. 31278393 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group GENOMICS_ENGLAND We conclude that de novo variants in TRPM3 are a cause of intellectual disability and epilepsy. 31278393 2019
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0023980
Disease: Longevity
Longevity
0.100 GeneticVariation phenotype GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Several ion-channels showed significantly increased expression in tumors (p < 0.0005); nine genes (namely, CACNA1D, FXYD3, FXYD5, HTR3A, KCNE3, KCNE4, KCNN4, CLIC1, TRPM3) showed such significant modification in at least half of datasets investigated for each cancer type. 27716384 2016
CUI: C0006826
Disease: Malignant Neoplasms
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
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
0.010 AlteredExpression phenotype BEFREE In conclusion, overexpression of TRPM3 and TRPV4 can jointly mediate the occurrence of mechanical hyperalgesia in TN. 31116130 2019
CUI: C0730308
Disease: Melanoma-Associated Retinopathy
Melanoma-Associated Retinopathy
0.010 Biomarker disease BEFREE Autoantibodies in Melanoma-Associated Retinopathy Recognize an Epitope Conserved Between TRPM1 and TRPM3. 28549093 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Several ion-channels showed significantly increased expression in tumors (p < 0.0005); nine genes (namely, CACNA1D, FXYD3, FXYD5, HTR3A, KCNE3, KCNE4, KCNN4, CLIC1, TRPM3) showed such significant modification in at least half of datasets investigated for each cancer type. 27716384 2016
CUI: C0030193
Disease: Pain
Pain
0.030 Biomarker phenotype BEFREE Transient receptor potential channels in the context of nociception and pain - recent insights into TRPM3 properties and function. 30844758 2019
CUI: C0030193
Disease: Pain
Pain
0.030 Biomarker phenotype BEFREE Finally, we compare antagonists of TRPM3 to specific blockers of TRPV1 as potential analgesic drugs to treat pathological pain. 29305649 2018
CUI: C0030193
Disease: Pain
Pain
0.030 Biomarker phenotype BEFREE Accordingly, activation of peripheral µORs in vivo strongly attenuates TRPM3-dependent pain. 28826482 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 AlteredExpression disease 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