SLC24A1, solute carrier family 24 member 1, 9187

N. diseases: 28; N. variants: 13
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 		0.720 GeneticVariation disease BEFREE This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. 26822852 2016
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 GermlineCausalMutation disease ORPHANET Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans. 20850105 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease BEFREE Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans. 20850105 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease HPO
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.720 Biomarker disease CTD_human