Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23636
Gene Symbol: NUP62
NUP62 		nucleoporin 62 0.470 0.885 0.95
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease 0.710 None 1.000 0 1 2002 2016
Entrez Id: 259307
Gene Symbol: IL4I1
IL4I1 		interleukin 4 induced 1 0.686 0.500 4.0E-03
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease 0.100 None 0 1