rs80338934, SH3TC2

N. diseases: 4
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India. 29184351 2019
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2. 29321516 2018
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306 2016
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023 2016
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647 2013
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135 2007
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 GeneticVariation BEFREE Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. 16806930 2006
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. 16806930 2006
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.710 CausalMutation CLINVAR A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 16326826 2005