rs121908677, SLC7A7

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 17764084 2008
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 15776427 2005
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. 15756301 2005
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. 12402335 2002
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Five LPI mutations (L334R, G54V, 1291delCTTT, 1548delC and LPI(Fin)) were studied functionally. 10655553 2000
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. 10631139 2000
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. 10080182 1999
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 GeneticVariation UNIPROT Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. 9829974 1998
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.800 CausalMutation CLINVAR