Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GermlineCausalMutation ORPHANET Finally, we showed that detailed electroretinography is an effective way to discriminate among patients with mutations in either TRPM1 or GRM6, another autosomal-recessive cCSNB disease gene. 19896109

2009
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GermlineCausalMutation ORPHANET We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells. 19896113

2009