Gene: BSCL2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.040 Biomarker disease BEFREE SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. 29336362 2018
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.040 GeneticVariation disease BEFREE Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered. 27862672 2017
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.040 GeneticVariation disease BEFREE Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. 23142943 2013
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.040 GeneticVariation disease BEFREE Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes. 17663003 2007