rs386833823, SLC7A7

N. diseases: 1
Disease: Lysinuric Protein Intolerance ×
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
0.810 GeneticVariation BEFREE LPI was diagnosed by the detection of a homozygous mutation of c.713 C>T (p.Ser238Phe) in SLC7A7, which was eventually found to co-occur with UPD14mat. 31427715 2019
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.810 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
0.810 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
0.810 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
0.810 GeneticVariation UNIPROT The gene-expression ratio of SLC7A6 to SLC7A7 in cultured lymphoblasts was significantly different between normal subjects and LPI patients with R410X and/or S238F, where the relative amount of SLC7A7 mRNA was significantly lower and the relative amount of SLC7A6 mRNA was statistically higher in affected lymphoblasts than in normal cells. 12402335 2002
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.810 GeneticVariation UNIPROT Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). 10655553 2000
Lysinuric Protein Intolerance
CUI: C0268647
Disease: Lysinuric Protein Intolerance
0.810 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
0.810 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
0.810 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
0.810 GeneticVariation CLINVAR