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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation group 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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 GeneticVariation disease BEFREE To characterize multiple myeloma (MM) from the viewpoint of the immunoglobulin (Ig) gene structure, we compared the transcripts of the Ig heavy chain variable region from 23 MM samples with 221 clones of the gamma, alpha and mu chain transcripts amplified by the reverse transcriptase-polymerase chain reaction (RT-PCR) from normal bone marrow (BM) cells. 8892685 1996
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue 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 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation disease BEFREE We used restriction endonuclease generated polymorphism with human VH gene-family-specific probes to examine genomic DNA from a RA family and from unrelated RA patients from both the Tunisian and the European populations. 9189012 1997
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.010 GeneticVariation disease BEFREE To reveal whether Richter's syndrome occurs in CLLs with mutated or unmutated VH genes, we have performed mutational analysis on serial specimens from eight patients. 14671632 2004
CUI: C0349632
Disease: Splenic Marginal Zone B-Cell Lymphoma
Splenic Marginal Zone B-Cell Lymphoma 		0.010 GeneticVariation disease BEFREE Splenic lymphoma with villous lymphocytes involves B cells with extensively mutated Ig heavy chain variable region genes. 7888678 1995
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
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: 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 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: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.020 Biomarker disease BEFREE The frequency of VH family use in FL was found to be similar to that reported for normal peripheral blood lymphocytes and is therefore also roughly proportional to VH family size. 1909196 1991
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Furthermore, this technological advance should be equally effective at identifying specific VH gene-expressing cells in other lymphoid malignancies, as well as in nonmalignant B cell disorders. 7883997 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: 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: C0024299
Disease: Lymphoma
Lymphoma 		0.010 Biomarker group 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: C0220704
Disease: Shprintzen syndrome
Shprintzen 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: 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: 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: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.010 Biomarker disease BEFREE To characterise the nature of the cellular origin of the blastic variant of mantle cell lymphoma (MCL-BV), we analysed the immunoglobulin (Ig) heavy chain variable region (V(H)) genes in four cases of MCL-BV. 10634642 2000
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