UHMK1, U2AF homology motif kinase 1, 127933

N. diseases: 31; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.010 AlteredExpression disease BEFREE On the other hand, the KIS gene was overexpressed in NF1-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) as compared to dermal neurofibroma which suggests a possible implication of KIS in the genesis of NF1-associated tumors. 12782393 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE On the other hand, the KIS gene was overexpressed in NF1-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) as compared to dermal neurofibroma which suggests a possible implication of KIS in the genesis of NF1-associated tumors. 12782393 2003
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 GeneticVariation disease BEFREE One locus on 1q23 (UHMK1, rs16863247, P=4.1×10(-7) for femoral neck BMD and P=3.2×10(-6) for total hip BMD) was a novel BMD signal. 27424934 2016
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.010 GeneticVariation disease BEFREE One locus on 1q23 (UHMK1, rs16863247, P=4.1×10(-7) for femoral neck BMD and P=3.2×10(-6) for total hip BMD) was a novel BMD signal. 27424934 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE Our results demonstrate the effectiveness of an aryloxazole moiety in targeting brain tumors and suggest KIST-G1 as a potent anti-glioblastoma agent. 31569420 2019
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors 		0.010 AlteredExpression group LHGDN Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human. 12782393 2003
CUI: C0376620
Disease: Pouchitis
Pouchitis 		0.010 GeneticVariation disease BEFREE SNP genotyping was performed for 8 SNPs reportedly associated with UCAC and pouchitis, namely: ELF1 (rs7329174), FCGR2A, (rs1801274), interleukin-1β (IL-1B; rs1143627), ITLN1 (rs2274910), MHC (rs7765379), TNFα (rs1799964), TNFSF15 (rs3810936), and UHMK1 (rs768910), using TaqMan genotyping technologies. 31671425 2019
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 Biomarker disease BEFREE The fact that UHMK1 regulates these factors suggests that UHMK1 might be involved in RNA processing and perhaps leukemogenesis. 29307747 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 GeneticVariation disease BEFREE The finding of allelic association with markers in the UHMK1 gene might help explain why it has not been possible, despite great effort, to satisfactorily confirm previously reported associations between schizophrenia and the genes RGS4 and NOS1AP/CAPON. 18414510 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease LHGDN The finding of allelic association with markers in the UHMK1 gene might help explain why it has not been possible, despite great effort, to satisfactorily confirm previously reported associations between schizophrenia and the genes RGS4 and NOS1AP/CAPON. 18414510 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET The finding of allelic association with markers in the UHMK1 gene might help explain why it has not been possible, despite great effort, to satisfactorily confirm previously reported associations between schizophrenia and the genes RGS4 and NOS1AP/CAPON. 18414510 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease BEFREE These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. 16978587 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease LHGDN These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. 16978587 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.350 Biomarker disease PSYGENET These results provide preliminary evidence that the UHMK1 gene increases susceptibility to schizophrenia. 16978587 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 Biomarker group BEFREE We analysed PAX5/BSAP expression by Northern and Western blotting in a panel of haematological tumour cell lines with other chromosome abnormalities in comparison with that of KIS-1. 9722295 1998
CUI: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 AlteredExpression disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 Biomarker disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 Biomarker group BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 Biomarker disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 Biomarker disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C1332153
Disease: acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome 		0.010 Biomarker disease BEFREE We showed that KIS mRNA expression was increased in primary leukemia specimens (acute myelogenous leukemia (AML); 37, myelodysplastic syndrome (MDS); 72, acute lymphoblastic leukemia (ALL); 23), and the mean ratios of KIS to G3PDH in AML, MDS and ALL specimens were 3.62+/-0.68, 3.27+/-0.73 and 3.17+/-0.58, respectively. 18384876 2008
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.030 GeneticVariation disease BEFREE When compared with six other DLCL cell lines lacking t(9;14)(p13;q32), the KIS-1 cell line showed an 11-fold overexpression of PAX-5 mRNA and a significantly reduced expression of the p53 gene, which is normally regulated by PAX-5. 8943844 1996
CUI: C0278762
Disease: Adult Diffuse Large Cell Lymphoma
Adult Diffuse Large Cell Lymphoma 		0.030 GeneticVariation disease BEFREE When compared with six other DLCL cell lines lacking t(9;14)(p13;q32), the KIS-1 cell line showed an 11-fold overexpression of PAX-5 mRNA and a significantly reduced expression of the p53 gene, which is normally regulated by PAX-5. 8943844 1996