Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
0.120 GeneticVariation phenotype BEFREE Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. 24597975 2015
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
0.120 GeneticVariation phenotype BEFREE Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. 22472424 2012
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
0.120 Biomarker phenotype HPO