Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The lethal(3)malignant brain tumor (D-l(3)mbt) gene is considered to be one of the tumor suppressor genes of Drosophila, and its recessive mutations are associated with malignant transformation of the neuroblasts in the larval brain. 10445843 1999
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 GeneticVariation disease BEFREE The lethal(3)malignant brain tumor (D-l(3)mbt) gene is considered to be one of the tumor suppressor genes of Drosophila, and its recessive mutations are associated with malignant transformation of the neuroblasts in the larval brain. 10445843 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Homozygous mutations in the l(3)mbt gene cause brain tumors in Drosophila, identifying l(3)mbt as a tumor suppressor gene. 12588862 2003
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 GeneticVariation group BEFREE Homozygous mutations in the l(3)mbt gene cause brain tumors in Drosophila, identifying l(3)mbt as a tumor suppressor gene. 12588862 2003
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 Biomarker disease BEFREE H-L(3)MBT, the human homolog of the Drosophila lethal(3)malignant brain tumor protein, is a member of the polycomb group (PcG) of proteins, which function as transcriptional regulators in large protein complexes. 12588862 2003
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms
0.030 GeneticVariation group BEFREE The h-l(3)mbt gene maps to chromosome 20q12, within a common deleted region associated with myeloid hematopoietic malignancies. 12588862 2003
CUI: C0023418
Disease: leukemia
leukemia
0.010 GeneticVariation disease BEFREE H-L(3)MBT contains three repeats of 100 residues called MBT repeats, whose function is unknown, and a C-terminal alpha-helical structure, the SPM (SCM, PH, MBT domain, which is structurally similar to the SAM (sterile alpha motif) protein-protein interaction domain, found in several ETS transcription factors, including TEL (translocation Ets leukemia). 12588862 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.010 GeneticVariation disease BEFREE H-L(3)MBT contains three repeats of 100 residues called MBT repeats, whose function is unknown, and a C-terminal alpha-helical structure, the SPM (SCM, PH, MBT domain, which is structurally similar to the SAM (sterile alpha motif) protein-protein interaction domain, found in several ETS transcription factors, including TEL (translocation Ets leukemia). 12588862 2003
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms
0.030 GeneticVariation group BEFREE We report on the X-ray structure of three 100-amino acid mbt repeats in h-l(3)mbt, a polycomb group protein involved in transcriptional repression, whose gene is located in a region of chromosome 20 associated with hematopoietic malignancies. 12842041 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Our results demonstrate that L3MBTL represents a previously undescribed imprinted locus, a vertebrate Polycomb group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions. 15123827 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE L3MBTL is highly homologous to the D-lethal(3) malignant brain tumor [D-l(3)mbt] gene, which is a putative tumor-suppressor gene (TSG) identified in Drosophila and which is closely related to the Drosophila sex combs on midleg (SCM) protein, a member of the Polycomb group (PcG) family of transcriptional repressors. 15334543 2004
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 Biomarker disease BEFREE L3MBTL is highly homologous to the D-lethal(3) malignant brain tumor [D-l(3)mbt] gene, which is a putative tumor-suppressor gene (TSG) identified in Drosophila and which is closely related to the Drosophila sex combs on midleg (SCM) protein, a member of the Polycomb group (PcG) family of transcriptional repressors. 15334543 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.020 AlteredExpression disease BEFREE However, five leukemia cell lines showed no L3MBTL expression, and two of the AML samples showed aberrant L3MBTL expression. 15334543 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.020 Biomarker group BEFREE The human L3MBTL gene is located in 20q12, a region that is commonly deleted in myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). 15334543 2004
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.020 GeneticVariation disease BEFREE These data suggest that L3MBTL is not mutated in MDS or MPD. 15334543 2004
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.010 Biomarker disease LHGDN To examine whether L3MBTL functions as a "classic" TSG in human hematologic malignancies, we screened a panel of 17 myeloid leukemia cell lines and peripheral blood or bone marrow samples from 29 MDS and 13 MPD patients for mutations in the entire L3MBTL coding sequence, including intron/exon splice junctions. 15334543 2004
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.010 AlteredExpression disease BEFREE However, given the known dosage effects of PcG proteins in regulating gene expression, reduced or absent L3MBTL expression may be relevant in some cases of myeloid leukemia. 15334543 2004
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 Biomarker group BEFREE To examine whether L3MBTL functions as a "classic" TSG in human hematologic malignancies, we screened a panel of 17 myeloid leukemia cell lines and peripheral blood or bone marrow samples from 29 MDS and 13 MPD patients for mutations in the entire L3MBTL coding sequence, including intron/exon splice junctions. 15334543 2004
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation group BEFREE These data suggest that L3MBTL is not mutated in MDS or MPD. 15334543 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE L3MBTL represents a strong candidate tumour suppressor gene since it lies within the common deleted region, is a member of the Polycomb-like family, encodes the human homologue of a Drosophila tumour suppressor and is expressed within haematopoietic progenitor cells. 15566354 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Characterization of the imprinted polycomb gene L3MBTL, a candidate 20q tumour suppressor gene, in patients with myeloid malignancies. 15566354 2004
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.020 AlteredExpression disease BEFREE In addition, our results demonstrate that inactivation of L3MBTL is not a common occurrence in patients with a 20q deletion or in cytogenetically normal patients with polycythaemia vera. 15566354 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE L3MBTL1, the human homolog of the Drosophila L(3)MBT polycomb group tumor suppressor gene, is located on chromosome 20q12, within the common deleted region identified in patients with 20q deletion-associated polycythemia vera, myelodysplastic syndrome, and acute myeloid leukemia. 20585043 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.020 GeneticVariation disease BEFREE L3MBTL1, the human homolog of the Drosophila L(3)MBT polycomb group tumor suppressor gene, is located on chromosome 20q12, within the common deleted region identified in patients with 20q deletion-associated polycythemia vera, myelodysplastic syndrome, and acute myeloid leukemia. 20585043 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.020 Biomarker group BEFREE Our data suggest that haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation. 20585043 2010