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 DNA and RNA binding by the Wilms' tumour gene 1 (WT1) protein +KTS and -KTS isoforms-From initial observations to recent global genomic analyses. 29240258 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells. 27612989 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 GeneticVariation disease BEFREE (1) KTS mutations cause isolated NS with absence of WT in 46,XX females. 20595692 2010
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.090 Biomarker disease BEFREE Three types of WT1 messages (total, exon 5(+) and KTS(+)) and WT1 immunostaining of these diseases were analyzed. 17803653 2007
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: 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: 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: 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: 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 GeneticVariation disease BEFREE (2) KTS mutations cause Frasier syndrome with gonadoblastoma risk in 46,XY phenotypic females. 20595692 2010
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		0.080 GeneticVariation disease BEFREE Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells. 18271004 2008
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: 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: 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: 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: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells. 27612989 2017
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 GeneticVariation disease BEFREE (1) KTS mutations cause isolated NS with absence of WT in 46,XX females. 20595692 2010
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: 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 (2) KTS mutations cause Frasier syndrome with gonadoblastoma risk in 46,XY phenotypic females. 20595692 2010
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.030 GeneticVariation disease BEFREE Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor splice site of intron-9, resulting in the splice form +KTS. 19653292 2009
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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.020 GeneticVariation group BEFREE Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. 27300205 2017