RBMXL1, RBMX like 1, 494115

N. diseases: 10; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 AlteredExpression disease BEFREE The increased expression of KAT1 and KAT3 mRNA characterized the entire cohorts of patients with UC and CD, as well as relapse-remission subsets. 31666808 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 AlteredExpression disease BEFREE The increased expression of KAT1 and KAT3 mRNA characterized the entire cohorts of patients with UC and CD, as well as relapse-remission subsets. 31666808 2019
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		0.010 Biomarker disease BEFREE Kynurenine aminotransferase-III is, so far, the most efficient putative mitochondrial enzyme to transaminate glyoxylate to glycine in mammalian livers, might be an interesting enzyme to look over in hyperoxaluria etiology of primary hyperoxaluria and should be carefully investigated for its involvement in oxalate metabolism. 30907303 2019
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		0.010 Biomarker disease BEFREE Kynurenine aminotransferase-III is, so far, the most efficient putative mitochondrial enzyme to transaminate glyoxylate to glycine in mammalian livers, might be an interesting enzyme to look over in hyperoxaluria etiology of primary hyperoxaluria and should be carefully investigated for its involvement in oxalate metabolism. 30907303 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE We have previously demonstrated that β-catenin's differential usage of the Kat3 transcriptional coactivator cyclic AMP-response element binding protein-binding protein (CBP) over its highly homologous coactivator p300 increases self-renewal and suppresses differentiation in other types of cancer. 29596326 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE We have previously demonstrated that β-catenin's differential usage of the Kat3 transcriptional coactivator cyclic AMP-response element binding protein-binding protein (CBP) over its highly homologous coactivator p300 increases self-renewal and suppresses differentiation in other types of cancer. 29596326 2018
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE We demonstrate that differential usage of the Kat3 coactivators, CREBBP/Creb Binding Protein (CBP) and EP300 (p300) by catenin, with increased CBP/catenin signaling at the expense of p300/catenin signaling, is mechanistically correlated with the increase in the leukemia stem/initiating-like population. 24720539 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE We demonstrate that differential usage of the Kat3 coactivators, CREBBP/Creb Binding Protein (CBP) and EP300 (p300) by catenin, with increased CBP/catenin signaling at the expense of p300/catenin signaling, is mechanistically correlated with the increase in the leukemia stem/initiating-like population. 24720539 2013
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.010 GeneticVariation disease BEFREE RBM1-IT4 cells had loss of heterozygosity and frame shift mutation on chromosome 3p, inactivating the von Hippel-Lindau (VHL) tumor suppressor gene and resulting in the production of relatively higher levels of VEGF than the RCCs without VHL mutation. 17332933 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE RBM1-IT4 cells had loss of heterozygosity and frame shift mutation on chromosome 3p, inactivating the von Hippel-Lindau (VHL) tumor suppressor gene and resulting in the production of relatively higher levels of VEGF than the RCCs without VHL mutation. 17332933 2007