Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.120 Biomarker phenotype BEFREE Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12-q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. 14981520 2004
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.120 Biomarker phenotype BEFREE Interestingly, both families show a clinical phenotype different from classical Silver syndrome, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked spasticity in the lower limbs and very striking distal amyotrophy that always started in the legs. 15242882 2004
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.120 Biomarker phenotype HPO