Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.620 GeneticVariation disease BEFREE Constitutional genomic DNA from 68 Pakistani individuals including unrelated WT cases (n=26) and one (n=10) or both (n=32) of their parent(s) were screened for the TRIP13 c.1060C>T mutation using DNA sequence analysis. 31574018 2020
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.620 GeneticVariation disease BEFREE Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 28553959 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.620 Biomarker disease CTD_human Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 28553959 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.620 GermlineCausalMutation disease ORPHANET Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 28553959 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.620 Biomarker disease HPO