Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
0.310 Biomarker disease BEFREE Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. 30887706 2019
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION
0.310 Biomarker disease GENOMICS_ENGLAND Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. 24152966 2014