Disease: Chromosome 9, partial trisomy 9p ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265428
Disease: Chromosome 9, partial trisomy 9p
Chromosome 9, partial trisomy 9p 		0.010 GeneticVariation disease BEFREE Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. 6095663 1984