Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
0.310 GeneticVariation disease BEFREE Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. 29274205 2018
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
0.310 Biomarker disease GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018