Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 AlteredExpression disease BEFREE Finally, using CRISPR/Cas9 genome editing, we showed that homozygous deletion of eTw5-7 enhancers reduced Twist1 expression in the limb bud and caused pre-axial polydactyly, a phenotype observed in Twist1+/- mice. 30372441 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease BEFREE Haploinsufficiency of Twist1 results in polydactyly via the inability of Twist1 to antagonistically regulate the related factor Hand2. 17652084 2007
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998