SLC7A4, solute carrier family 7 member 4, 6545

N. diseases: 31; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 AlteredExpression disease BEFREE In five of the six unmutated CLLs, the DLBL clones evolved from CLL tumorclones and the VH genes expressed by DLBLs were also unmutated. 14671632 2004
CUI: C0278762
Disease: Adult Diffuse Large Cell Lymphoma
Adult Diffuse Large Cell Lymphoma
0.010 AlteredExpression disease BEFREE Although most of the VH genes expressed by DLC tumor cells contained mutations with respect to their germline counterparts, almost all of these mutations occurred before the clonal expansion of the tumor. 7579401 1995
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE In addition, human glioblastoma cells stably overexpressing a fusion protein between SLC7A4 and the enhanced green fluorescent protein (EGFP) did not exhibit an increased transport activity for l-arginine. 12049641 2002
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 Biomarker disease BEFREE With one possible exception, none of these lymphoma VH sequences appear to represent any of the VH3 genes that may be preferentially used in the fetal repertoire. 1909196 1991
Anterior segment mesenchymal dysgenesis
0.010 Biomarker disease BEFREE Thus, on the basis of phenotype and map position, Cat4 may be a mouse model of human ASOD. 9166583 1997
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
0.010 GeneticVariation disease BEFREE To address the proposition that familial B-cell chronic lymphocytic leukemia (CLL) may exhibit a more restricted phenotype than sporadic CLL with respect to immunoglobulin gene usage or ontogenic development, we compared immunoglobulin (Ig) heavy chain variable region (VH) gene usage and IgVH mutation status in 327 patients with CLL from 214 families with 724 patients with sporadic cases. 18424666 2008
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
0.010 GeneticVariation disease BEFREE Cat4 is the second largest allelism group in the collection of mouse dominant eye mutations recovered in Neuherberg and carriers express anterior polar cataract, central corneal opacity, and lens-corneal adhesions. 9166583 1997
Childhood Diffuse Large Cell Lymphoma
0.010 AlteredExpression disease BEFREE Although most of the VH genes expressed by DLC tumor cells contained mutations with respect to their germline counterparts, almost all of these mutations occurred before the clonal expansion of the tumor. 7579401 1995
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE In addition, human glioblastoma cells stably overexpressing a fusion protein between SLC7A4 and the enhanced green fluorescent protein (EGFP) did not exhibit an increased transport activity for l-arginine. 12049641 2002
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 Biomarker disease BEFREE With one possible exception, none of these lymphoma VH sequences appear to represent any of the VH3 genes that may be preferentially used in the fetal repertoire. 1909196 1991
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 Biomarker disease BEFREE We examined the immunoglobulin (Ig) heavy chain variable region genes (V(H) genes) used by leukemia cells of 1220 unrelated patients with chronic lymphocytic leukemia (CLL). 15217828 2004
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 AlteredExpression disease BEFREE Prior studies revealed that the leukemic B cells of patients with chronic lymphocytic leukemia (CLL) express a restricted Ig heavy chain variable region gene (VH gene) repertoire. 8977195 1997
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 Biomarker disease BEFREE We examined the chronic lymphocytic leukemia (CLL) cells of 2457 patients evaluated by the CLL Research Consortium (CRC) and found that 63 (2.6%) expressed immunoglobulin (Ig) encoded by the Ig heavy-chain-variable-region gene (IGHV), IGHV3-21. 18326815 2008
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 GeneticVariation disease BEFREE The methods identified 144 genes that were differentially expressed between cases of CLL with unmutated compared with mutated Ig VH genes. 16049305 2005
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 GeneticVariation disease BEFREE To address the proposition that familial B-cell chronic lymphocytic leukemia (CLL) may exhibit a more restricted phenotype than sporadic CLL with respect to immunoglobulin gene usage or ontogenic development, we compared immunoglobulin (Ig) heavy chain variable region (VH) gene usage and IgVH mutation status in 327 patients with CLL from 214 families with 724 patients with sporadic cases. 18424666 2008
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 AlteredExpression disease BEFREE Thus, from our present observation of an albeit limited patient population, we have found an association between VH gene family use and CD5 antigen expression in chronic B-cell leukemias. 7513207 1994
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.070 AlteredExpression disease BEFREE In five of the six unmutated CLLs, the DLBL clones evolved from CLL tumorclones and the VH genes expressed by DLBLs were also unmutated. 14671632 2004
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.020 AlteredExpression disease BEFREE In five of the six unmutated CLLs, the DLBL clones evolved from CLL tumorclones and the VH genes expressed by DLBLs were also unmutated. 14671632 2004
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.020 AlteredExpression disease BEFREE Although most of the VH genes expressed by DLC tumor cells contained mutations with respect to their germline counterparts, almost all of these mutations occurred before the clonal expansion of the tumor. 7579401 1995
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
0.010 Biomarker disease BEFREE By chromosomal in situ hybridization and YAC identification, SLC7A4 was mapped to 22q11.2, the commonly deleted region of the velocardiofacial syndrome (VCFS, Shprintzen syndrome). 9598310 1998
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma
0.020 GeneticVariation disease BEFREE The observed patterns of V(H) usage and mutations suggested that specific antigens may play a pathologically relevant role in the genesis or progression of thymic MALT lymphoma. 16353132 2006
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma
0.020 Biomarker disease BEFREE Based on the CDR3 sequence amplified from each MALT lymphoma, individual tumor-specific primers were synthesized and used directly in the polymerase chain reaction (PCR) to analyze the sequences of their Ig heavy-chain variable region. 7579460 1995
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE In addition, human glioblastoma cells stably overexpressing a fusion protein between SLC7A4 and the enhanced green fluorescent protein (EGFP) did not exhibit an increased transport activity for l-arginine. 12049641 2002
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE In addition, human glioblastoma cells stably overexpressing a fusion protein between SLC7A4 and the enhanced green fluorescent protein (EGFP) did not exhibit an increased transport activity for l-arginine. 12049641 2002
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 Biomarker disease BEFREE The extraordinarily high usage of the V(H)3-30 heavy-chain gene in these patients has implications for the pathogenesis, diagnosis, and management of chronic ITP. 12149222 2002