L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities
0.300 Biomarker group CTD_human MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 7920660 1994