Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.430 Biomarker GENOMICS_ENGLAND Missense mutations in <i>BICD2</i> cause autosomal dominant spinal muscular atrophy, lower-extremity predominant 2 (SMALED2), a disease characterized by muscle weakness and arthrogryposis of early onset and slow progression. 30054298

2018