Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972

2018