Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.110 GeneticVariation disease GWASCAT Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. 29700475 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.110 GeneticVariation disease BEFREE We found that common and rare variants of L3MBTL2 were significantly associated with AD. mRNA expression levels of 18 MDD risk genes, in particular SORCS3 and OAT, were differentially expressed in AD brain tissues. 30010129 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.110 GeneticVariation disease GWASCAT Identification of 15 genetic loci associated with risk of major depression in individuals of European descent. 27479909 2016
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE The tumor suppressor L(3)mbt has been shown to secure cellular identity in <i>Drosophila</i> larval brains by repressing germline-specific genes. 29511022 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE Here, we have meta-analyzed gene expression profiles of the human orthologs of Drosophila melanogaster germline genes that are ectopically expressed in l(3)mbt brain tumors using gene expression datasets derived from a large cohort of human tumors. 24243547 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements. 21857667 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 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: C0027651
Disease: Neoplasms
Neoplasms
0.070 GeneticVariation 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: C0027651
Disease: Neoplasms
Neoplasms
0.070 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: C0027651
Disease: Neoplasms
Neoplasms
0.070 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 Biomarker group BEFREE Here, we show that <i>Drosophila</i> l(3)mbt brain tumors are more invasive and develop as malignant neoplasms more often in males than in females. 31453329 2019
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 Biomarker disease BEFREE Lethal (3) malignant brain tumor like 2 (L3MBTL2) is a member of the MBT-domain proteins, which are involved in transcriptional repression and implicated in chromatin compaction. 30760872 2019
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 GeneticVariation disease BEFREE Mutations in the lethal (3) malignant brain tumor gene (l(3)mbt) have been shown to cause ectopic expression of germline genes, including ping-pong factors. 28552546 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 AlteredExpression group BEFREE Here, we have meta-analyzed gene expression profiles of the human orthologs of Drosophila melanogaster germline genes that are ectopically expressed in l(3)mbt brain tumors using gene expression datasets derived from a large cohort of human tumors. 24243547 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.040 Biomarker group BEFREE We demonstrate that brain tumours in l(3)mbt mutants originate from overproliferation of neuroepithelial cells in the optic lobes caused by derepression of target genes in the Salvador-Warts-Hippo (SWH) pathway. 21857667 2011
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.040 GeneticVariation 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