Disease: Night blindness, congenital stationary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. 31427709 2019
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Human TRPM1 mutations are associated with congenital stationary night blindness (CSNB). 29854741 2018
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease BEFREE This study was conducted at the University of Iowa from January 1, 1990, to July 1, 2015, and was a retrospective, longitudinal case series of 7 children (5 [71.4%] female) with TRPM1-associated cCSNB followed up for a mean (SD) of 11.1 (2.8) years. 29522070 2018
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease BEFREE As shown for other cohorts, TRPM1 seems to be a major gene defect in patients with cCSNB in India. 24715752 2014
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Clear genotype-phenotype correlations emerged, showing that this eye phenotype was secondary to homozygous deletion of TRPM1, the gene responsible for autosomal recessive congenital stationary night blindness. 24668847 2014
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 AlteredExpression disease BEFREE Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response and have been seen in patients with cCSNB. 22325361 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE Notably, TRPM1 mutations have also been associated with congenital stationary night blindness in humans. 21290293 2011
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE This review covers the significant discoveries on the physiological function and regulatory mechanism of the TRPM1 channel in retinal ON bipolar cells and the association of human TRPM1 mutations with congenital stationary night blindness. 20846719 2011
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease BEFREE TRPM1 mutations are associated with the complete form of congenital stationary night blindness. 20300565 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GermlineCausalMutation disease 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
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GermlineCausalMutation disease 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
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease BEFREE We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells. 19896113 2009
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease CTD_human
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 Biomarker disease HPO
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 GeneticVariation disease CLINVAR
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.800 CausalMutation disease CLINVAR