Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 Biomarker disease BEFREE A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. 9788559 1998