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: C0442874
Disease: Neuropathy
Neuropathy
0.100 Biomarker group BEFREE Our study delineates CMT1C as mostly a mild form of neuropathy, and gives clinical and electrophysiological clues differentiating CMT1C from CMT1A and HNPP. 28211240 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 Biomarker group BEFREE CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). 26989944 2016
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE The Pro132Leu mutation segregates with a severe early-onset dysmyelinating-hypomyelinating neuropathy, whereas the Ile135Thr substitution is associated with the classical phenotype of CMT1. 21107784 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 20537790 2010
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 19344920 2009
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 Biomarker group BEFREE Most demyelinating forms of Charcot-Marie-Tooth type 1 (CMT1) neuropathy are slowly progressive and do not respond to anti-inflammatory treatment. 15261606 2004
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 Biomarker group BEFREE We conclude that DSS, although in general denoting a more serious neuropathy than CMT1, does not imply a severe disability or wheelchair dependency in adult life. 12090401 2002
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE X-linked Charcot-Marie-Tooth neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. 11345007 2001
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE X-linked Charcot-Marie-Tooth neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. 10716658 1999
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE X-linked Charcot-Marie-Tooth neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. 10219749 1999
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE Genetic heterogeneity within the most common genetic neuropathy, Charcot-Marie-Tooth disease (CMT) results in about 70% slow nerve conduction CMT1 and 30% normal nerve conduction CMT2. 8135298 1993
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE Two major types can be distinguished based on electrophysiologic phenotypes: CMT type 1 (CMT1) displays uniformly decreased nerve conduction velocity associated with a demyelinating hypertrophic neuropathy, and CMT type 2 (CMT2) displays normal or near-normal nerve conduction velocity associated with a neuronal defect. 8128981 1993
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.100 GeneticVariation group BEFREE In this study we excluded all four regions for the presence of distal HMN II, indicating that this neuropathy is genetically different from CMT 1 and recessive SMA. 1517763 1992