NBEAL1, neurobeachin like 1, 65065

N. diseases: 60; N. variants: 24
Disease: Hemophilia B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.010 Biomarker disease BEFREE Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site. 3965513 1985