RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
Disease: Aplasia of muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		0.010 Biomarker disease BEFREE Charcot-Marie-Tooth neuropathy type 1 (CMT1) is genetically heterogeneous and characterized by demyelination with moderately to severely reduced nerve conduction velocities, absent muscle stretch reflexes and onion bulb formation. 10716658 1999