SLC52A2, solute carrier family 52 member 2, 79581

N. diseases: 261; N. variants: 21
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 GeneticVariation UNIPROT SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. 27702554 2016
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 GeneticVariation UNIPROT Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 GeneticVariation UNIPROT Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 23243084 2013
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 GeneticVariation UNIPROT Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 22864630 2012
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.800 GeneticVariation UNIPROT Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598 2012
dbSNP: rs397514657
rs397514657
Entrez Id: 26233;79581
Gene Symbol: FBXL6;SLC52A2
FBXL6;SLC52A2
CUI: C3553538
Disease:
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		T 0.800 CausalMutation CLINVAR Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. 22824638 2012