KTWS, Klippel-Trenaunay-Weber syndrome, 791122

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Here, we show that WT1 -KTS isoforms associate and synergize with SF-1 to promote MIS expression. 9590178 1998
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 Biomarker disease BEFREE Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 9499425 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE We demonstrate that introduction of EWS/WT1(-KTS) into NIH3T3 cells causes their tumorigenic transformation as determined by: formation of transformed foci on a monolayer of cells; anchorage-independent growth; and tumor formation in nude mice. 9591781 1998
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 GeneticVariation disease BEFREE In this study, two +KTS deletion mutants of WT1 were made as well as a WT1 mutant mimicking a mutation found in a patient who had diffuse mesangial sclerosis, end stage renal failure and Wilms tumor. 10586431 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 AlteredExpression disease BEFREE From these results, we suggest that the alteration of +KTS WT1 expression be responsible for the rapid progression of renal diseases in DDS and FS. 10586431 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 GeneticVariation disease BEFREE KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma. 10505700 1999
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 GeneticVariation disease BEFREE Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943 1999
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 GeneticVariation disease BEFREE In this study, two +KTS deletion mutants of WT1 were made as well as a WT1 mutant mimicking a mutation found in a patient who had diffuse mesangial sclerosis, end stage renal failure and Wilms tumor. 10586431 1999
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.030 GeneticVariation disease BEFREE KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma. 10505700 1999
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 GeneticVariation disease BEFREE KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by focal and segmental glomerulosclerosis (FSGS), XY pseudohermaphroditism, and frequent occurrence of gonadoblastoma. 10505700 1999
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 AlteredExpression group BEFREE From these results, we suggest that the alteration of +KTS WT1 expression be responsible for the rapid progression of renal diseases in DDS and FS. 10586431 1999
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.010 GeneticVariation disease BEFREE In this study, two +KTS deletion mutants of WT1 were made as well as a WT1 mutant mimicking a mutation found in a patient who had diffuse mesangial sclerosis, end stage renal failure and Wilms tumor. 10586431 1999
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		0.010 AlteredExpression disease BEFREE From these results, we suggest that the alteration of +KTS WT1 expression be responsible for the rapid progression of renal diseases in DDS and FS. 10586431 1999
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE WT1 transcript analysis showed reversal of the normal positive/negative KTS (lysine, threonine, and serine) isoform ratio, confirming the diagnosis of FS. 12050205 2002
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 Biomarker disease BEFREE WT1 transcript analysis showed reversal of the normal positive/negative KTS (lysine, threonine, and serine) isoform ratio, confirming the diagnosis of FS. 12050205 2002
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE This induction was EWS-WT1(-KTS)-specific, and more importantly, TALLA-1 protein was expressed in the three independent cases of DSRCT. 14633590 2003
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		0.020 AlteredExpression disease BEFREE This induction was EWS-WT1(-KTS)-specific, and more importantly, TALLA-1 protein was expressed in the three independent cases of DSRCT. 14633590 2003
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.010 Biomarker disease BEFREE This induction was EWS-WT1(-KTS)-specific, and more importantly, TALLA-1 protein was expressed in the three independent cases of DSRCT. 14633590 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Wilms' tumor gene WT1 17AA(-)/KTS(-) isoform induces morphological changes and promotes cell migration and invasion in vitro. 16630117 2006
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 Biomarker disease BEFREE Germline intronic mutations leading to the loss of the +KTS isoforms have been observed in all patients with Frasier syndrome. 16927106 2006
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE Wilms' tumor gene WT1 17AA(-)/KTS(-) isoform induces morphological changes and promotes cell migration and invasion in vitro. 16630117 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Constitutive expression of the WT1 17AA(-)/KTS(-) isoform also induced morphological changes in five (one gastric, one esophageal, two breast and one fibrosarcoma) of eight cancer cell lines examined. 16630117 2006
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 Biomarker disease BEFREE Constitutive expression of the WT1 17AA(-)/KTS(-) isoform also induced morphological changes in five (one gastric, one esophageal, two breast and one fibrosarcoma) of eight cancer cell lines examined. 16630117 2006
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 Biomarker disease BEFREE Constitutive expression of the WT1 17AA(-)/KTS(-) isoform also induced morphological changes in five (one gastric, one esophageal, two breast and one fibrosarcoma) of eight cancer cell lines examined. 16630117 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE In the WT1 17AA(-)/KTS(-) isoform-transduced TYK cells, cell-substratum adhesion was suppressed, and cell migration and in vitro invasion were enhanced compared to that in mock vector-transduced TYK cells. 16630117 2006