RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		0.010 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 1A (CMT1A) accounts for 70-90% of cases of CMT1 and is most frequently caused by the tandem duplication of a 1.4-Mb genomic fragment on chromosome 17p12. 11325886 2001