SLC24A1, solute carrier family 24 member 1, 9187

N. diseases: 28; N. variants: 13
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
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 CausalMutation disease CLINVAR
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.300 Biomarker disease CTD_human
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.300 Biomarker disease CTD_human
CUI: C1864877
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 		0.300 Biomarker disease CTD_human
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.300 Biomarker disease CTD_human
CUI: C3501847
Disease: Night blindness, congenital stationary, type 1
Night blindness, congenital stationary, type 1 		0.300 Biomarker disease CTD_human
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.300 Biomarker disease CTD_human
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		0.300 Biomarker disease CTD_human
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		0.200 Biomarker phenotype RGD Alteration of intracellular calcium and its modulator SLC24A6 after experimental intracerebral hemorrhage. 23564126 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 GeneticVariation disease BEFREE We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa. 27624628 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 CausalMutation disease CLINVAR
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012