Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.300 Biomarker GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393

2019
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.300 Biomarker GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220

2017