SLC7A7, solute carrier family 7 member 7, 9056

N. diseases: 122; N. variants: 53
Disease: Lysinuric Protein Intolerance ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
CUI: C0268647
Disease:
Lysinuric Protein Intolerance 		0.800 GeneticVariation UNIPROT Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 17764084 2008
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
CUI: C0268647
Disease:
Lysinuric Protein Intolerance 		0.800 GeneticVariation UNIPROT Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). 10655553 2000
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
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
dbSNP: rs386833815
rs386833815
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
CUI: C0268647
Disease:
Lysinuric Protein Intolerance 		G 0.800 GeneticVariation CLINVAR