Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 GeneticVariation BEFREE Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. 31634715

2019
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 GeneticVariation BEFREE Scoliosis and cranial nerve involvement are frequent features of this CMT4 subtype, and their presence should prompt the clinician to look for SH3TC2 gene mutations. 27231023

2016
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 Biomarker BEFREE The absence of scoliosis or late-onset symptoms should not exclude SH3TC2 from the list of candidate genes under consideration. 25737037

2015
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 GeneticVariation BEFREE Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. 19744956

2009
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.140 Biomarker HPO