Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.110 GeneticVariation phenotype BEFREE BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. 25454168 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.110 Biomarker phenotype HPO