Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Corpuscular Hemoglobin Concentration Mean
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Corpuscular Hemoglobin Concentration Mean
0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE 106 primary ITP patients (16 with newly-diagnosed ITP, 16 with persistent ITP and 74 with chronic ITP) and 39 secondary ITP patients (20 with ITP secondary to immune disorders, 7 with ITP secondary to infectious diseases and 12 with ITP secondary to lymphoproliferative disorders [LPD]) were retrospectively evaluated. 31840311 2020
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE Primary intestinal Epstein-Barr virus [EBV]-associated natural killer/T-cell lymphoproliferative disorder [PIEBV+ NK/T-LPD] is a rare clinical entity, which is difficult to differentiate from inflammatory bowel disease [IBD]. 29635312 2018
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE Epstein-Barr virus-positive T/NK-cell lymphoproliferative disorders (EBV<sup>+</sup> T/NK LPD) encompass a heterogeneous group of disorders, including chronic active Epstein-Barr virus infection (CAEBV), Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH), systemic EBV<sup>+</sup> T-cell lymphoma of childhood and hydroa vacciniforme-like lymphoproliferative disorder (HVLPD) and so on, predominantly affecting children and young adults with high mortality. 30356785 2018
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 Biomarker disease BEFREE We show that the Drosophila bubblegum(bgm) and double bubble(dbb) genes have overlapping functions, and that the consequences of double knockout of both bubblegum and double bubble in the fly brain are profound, affecting behavior and brain morphology, and providing the best paradigm to date for an animal model of adrenoleukodystrophy (ALD), a fatal childhood neurodegenerative disease associated with the accumulation of very-long-chain fatty acids. 26893370 2016
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE B cell subsets and function were analyzed in peripheral blood from 66 adult patients with primary SS (including 14 patients with B cell lymphoproliferative disease [LPD]) and 30 healthy donors, using flow cytometry, calcium mobilization, and gene array analysis. 23279883 2013
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE Epstein-Barr virus-positive T/natural killer (NK)-cell lymphoproliferative disorder (EBV+T/NK LPD) encompasses a heterogeneous group of disorders that have a common feature with excessive lymphoid proliferation of mainly T cells and/or NK cells. 24228130 2013
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE Control donor-derived and T/NK-LPD-derived strains were similarly distributed across allelotypes and, by using allelic polymorphisms to track virus strains in patients pre- and post-haematopoietic stem-cell transplant, we show that a single strain can induce both T/NK-LPD and B-cell-lymphoproliferative disease in the same patient. 21248177 2011
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 Biomarker disease BEFREE Its mouse/human homologs, lipidosin/bubblegum, have been suggested to participate in X-linked adrenoleukodystrophy (X-ALD), an adreno/neurodegenerative disorder with accumulation of very long chain fatty acids (VLCFA) in tissues and plasma. 19167491 2009
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 Biomarker disease BEFREE ACSBG1, an acyl-CoA synthetase originally identified in the fruit fly mutant bubblegum, was hypothesized to contribute to the biochemical pathology of X-linked adrenoleukodystrophy. 16371355 2006
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 AlteredExpression disease LHGDN Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013 2005
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 AlteredExpression disease BEFREE BG1 protein levels were similar in wild-type and X-ALD mouse brain, spinal cord, testis, and adrenal gland. 15464426 2005
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 AlteredExpression disease BEFREE Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013 2005
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 Biomarker disease BEFREE A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy. 12719378 2003
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.070 Biomarker disease BEFREE Thus, Lipidosin may mediate the link between ALDP dysfunction and the impairment of fatty acid metabolism in X-ALD. 11112418 2000
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.070 Biomarker group BEFREE Twelve cases of T gamma LPD (lymphoproliferative disorders of Fc gamma receptor-bearing T cells) involving an expansion of large granular lymphocyte/natural killer (LGL/NK) cells were investigated for the expression of LGL/NK-associated markers and for T beta gene rearrangement. 3934321 1985
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE A 13-year-old boy presented to our clinic with a raised tumor with PCSM-LPD histology and was successfully treated with ultra-low-dose radiation therapy. 30548331 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE We have previously shown that the PEGylated LPD (liposome-polycation-DNA) nanoparticles were highly efficient in delivering siRNA to the tumor with low liver uptake. 19595666 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE After withdrawal of MTX, 11 of the MTX-LPD cases showed a spontaneous regression of tumors. 17117491 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE While p16/INK4a might play a role in the proliferative rate of LP-LPD, further investigations are needed to assess the clinical relevance of p16/INK4a expression in predicting the evolution of tumors and to explain how EBV could favor p16/INK4a protein accumulation in lesions. 10793069 2000