Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. 28555600 2017
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. 27068304 2016
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306 2016
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023 2016
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Phenotypic variability of CMT4C in a French-Canadian kindred. 25737037 2015
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352 2015
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease BEFREE Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2) gene cause autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy. 24833716 2014
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 23553667 2013
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 GeneticVariation disease BEFREE To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. 23749797 2013
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 23281072 2013
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647 2013
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453 2011
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453 2011
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 Biomarker disease BEFREE We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. 22028665 2011
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889 2011
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177 2010
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. 20826437 2010
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 20028792 2010
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956 2009
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956 2009
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281 2008
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease BEFREE The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135 2007
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135 2007
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012 2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012 2006