Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0201968
Disease: Cortisol Measurement
Cortisol Measurement 		0.100 GeneticVariation phenotype GWASCAT Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study. 29551627 2018
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study. 29551627 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE We show that both pediatric and adult B-lineage lymphoid malignancies are characterized by a very high incidence of the CD22ΔE12 genetic defect. 25567759 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation disease BEFREE Our study implicates the CD22ΔE12 genetic defect in the aggressive biology of relapsed or therapy-refractory paediatric B-lineage ALL. 22017452 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Forced expression of the mutant CD22ΔE12 protein in transgenic mice perturbs B-cell development, as evidenced by B-precursor/B-cell hyperplasia, and corrupts the regulation of gene expression, causing reduced expression levels of several genes with a tumor suppressor function. 20841423 2010
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.010 Biomarker disease BEFREE The expression and localization of the helix-loop-helix transcription factors Id1 and Id3, as well as localization of the E12-protein, were studied in cells isolated from human articular cartilage and chondrosarcoma. 9821964 1998