NUP107, nucleoporin 107, 57122

N. diseases: 3; N. variants: 6
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4225228
Disease: NEPHROTIC SYNDROME, TYPE 11
NEPHROTIC SYNDROME, TYPE 11 		disease Disease or Syndrome 1 5 0.700 strong 1.000 1 5 2015 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C3554634
Disease: Light complexion
Light complexion 		phenotype Finding 1 1 0.100 None 0 1