SLC24A1, solute carrier family 24 member 1, 9187

N. diseases: 28; N. variants: 13
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.600 CausalMutation disease CLINVAR
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.600 Biomarker disease MGD A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease. 26246500 2015
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.600 Biomarker disease GENOMICS_ENGLAND A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 20850105 2010
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.600 Biomarker disease GENOMICS_ENGLAND