NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease BEFREE NIPBL may be directly involved in ptosis pathogenesis. 16606884 2006
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease HPO