PKNOX1, PBX/knotted 1 homeobox 1, 5316

N. diseases: 34; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE Our results provide a rationale for the involvement of PREP1 in the apoptotic phenotype of DS tissues and indicate that differences in Prep1 level can have drastic effects. 20110257 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 Biomarker group BEFREE Cytogenetic analysis shows the presence of numerous chromosomal aberrations and aneuploidy in very early-passage Prep1(i/i) MEFs. 21715654 2011
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE Prep1 deficiency induces protection from diabetes and increased insulin sensitivity through a p160-mediated mechanism. 18644868 2008
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE Prep1 deficiency induces protection from diabetes and increased insulin sensitivity through a p160-mediated mechanism. 18644868 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 Biomarker disease BEFREE Prep1 deficiency induces protection from diabetes and increased insulin sensitivity through a p160-mediated mechanism. 18644868 2008
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE Here we establish the competitive relationship between PKNOX1 and MEIS1 in PBX-containing complex formation and determine the antagonistic role of PKNOX1 to leukemia in a murine MLL-AF9 model. 27123834 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE We report here: (i) overexpression of PKNOX1 in DS fetal brains; (ii) in vitro specific binding of PKNOX1 to the Pbx/POU site of the FABP7 promoter; (iii) in vivo FABP7 promoter trans-activation in cultured neuroblastoma cells caused by PKNOX1 overexpression. 12771203 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE Progression of retinitis pigmentosa on multimodal imaging: The PREP-1 study. 30552737 2019
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 Biomarker disease BEFREE Accordingly, we have detected PREP1 accumulation in a large number of human brain metastases of various solid tumors, including NSCLC. 25157139 2014
CUI: C0276138
Disease: Viral myocarditis
Viral myocarditis 		0.010 Biomarker disease BEFREE MiR-223/Pknox1 axis protects mice from CVB3-induced viral myocarditis by modulating macrophage polarization. 29524390 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Pre-B-cell leukemia transcription factor (PBX)/three-amino-acid loop extension (TALE) class transcription factors [PBX1-4, Meis homeobox (Meis) 1-3, pbx/knotted 1 homeobox (Prep) 1, 2] are involved in tumorigenesis and metastasis. 21703237 2011
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 Biomarker disease BEFREE Prep1 (pKnox1)-deficiency leads to spontaneous tumor development in mice and accelerates EmuMyc lymphomagenesis: a tumor suppressor role for Prep1. 20106730 2010
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE We report here: (i) overexpression of PKNOX1 in DS fetal brains; (ii) in vitro specific binding of PKNOX1 to the Pbx/POU site of the FABP7 promoter; (iii) in vivo FABP7 promoter trans-activation in cultured neuroblastoma cells caused by PKNOX1 overexpression. 12771203 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE Here we establish the competitive relationship between PKNOX1 and MEIS1 in PBX-containing complex formation and determine the antagonistic role of PKNOX1 to leukemia in a murine MLL-AF9 model. 27123834 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 Biomarker disease BEFREE Furthermore, an inverse correlation was observed between Pknox1 and miR-17 and miR-20a in free fatty acids-induced hepatocyte steatosis. 30338914 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE We report here: (i) overexpression of PKNOX1 in DS fetal brains; (ii) in vitro specific binding of PKNOX1 to the Pbx/POU site of the FABP7 promoter; (iii) in vivo FABP7 promoter trans-activation in cultured neuroblastoma cells caused by PKNOX1 overexpression. 12771203 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		0.100 GeneticVariation phenotype GWASCAT Common genetic variation and performance on standardized cognitive tests. 20125193 2010
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 GeneticVariation group BEFREE In agreement with the above data, haploinsufficiency of a different Prep1-deficient (null) allele accelerates EmuMyc lymphoma growth. 20106730 2010
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 GeneticVariation disease BEFREE In agreement with the above data, haploinsufficiency of a different Prep1-deficient (null) allele accelerates EmuMyc lymphoma growth. 20106730 2010
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 GeneticVariation disease BEFREE In agreement with the above data, haploinsufficiency of a different Prep1-deficient (null) allele accelerates EmuMyc lymphoma growth. 20106730 2010