RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.020 Biomarker disease BEFREE In addition, the molecular analysis of these 2 patients suggests that 2 common autosomal dominant conditions (CMT1 and NF1) can occur in the same individual, not because of an underlying single molecular defect, but rather, secondary to a chance phenomenon. 8418668 1993
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.020 Biomarker disease BEFREE Multicolor in situ hybridization also excluded the possibility of pericentric inversions in two unrelated patients with CMT1 and neurofibromatosis type 1. 1729894 1992