Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Epidemiology of peripheral neuropathy. 9120441

1997