Gene: UBTF ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 Biomarker disease GENOMICS_ENGLAND In seven unrelated affected individuals, all suffering from developmental regression starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu210Lys in UBF, which occurred de novo in all cases. 28777933 2017
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 Biomarker disease HPO
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 CausalMutation disease CLINVAR