SLC52A2, solute carrier family 52 member 2, 79581

N. diseases: 261; N. variants: 21
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. 29053833 2017
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease 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
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 26669662 2016
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Large-scale whole-genome sequencing of the Icelandic population. 25807286 2015
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. 27148561 2015
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. 25798182 2015
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Large-scale whole-genome sequencing of the Icelandic population. 25807286 2015
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 24616084 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 24616084 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25133958 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200 2014
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 23243084 2013
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. 23243084 2013
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 22864630 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 CausalMutation disease CLINVAR Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. 22824638 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 22864630 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 22864630 2012
CUI: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		0.700 Biomarker disease CLINGEN Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598 2012