RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 Biomarker group BEFREE In addition to providing a biochemical marker for the differential diagnosis of CMT, the upregulation of LMW slow TnT isoforms under the distinct pathophysiology of CMT1 demonstrates an adaptation of muscle function to neurological disorders by alternative splicing modification of myofilament proteins. 18579801 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. 11438991 2001