Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.020 GeneticVariation disease BEFREE In conclusion, we have shown that the renal-specific phenotype associated with the LMX1B<sub>R246Q</sub> mutation may be due to a dominant negative effect on WT1(-KTS) isoforms that may cause a disruption of the WT1 (-KTS):(+KTS) isoform ratio and a decrease in the expression of podocyte genes. 28059119 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.020 Biomarker disease BEFREE In this review, the role of Wilms tumor 1 (WT1), LIM homeobox transcription factor 1, beta (Lmx1b), pod1, pax-2, kreisler, nuclear factor-kappa B (NF-kappaB), smad7, and zinc fingers and homeoboxes (ZHX) proteins in the development of podocyte disease is outlined. 17466922 2007