TOP2B, DNA topoisomerase II beta, 7155

N. diseases: 58; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 GeneticVariation group BEFREE Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. 28343847 2017