Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.110 CausalMutation disease CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.110 Biomarker disease BEFREE Cleft palate in Tgfbr2 mutant mice results from a cell proliferation defect within the CNC-derived palatal mesenchyme. 12975342 2003