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: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis
disease 0.100 None 0 1
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis
disease 0.100 None 0 0
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
immunoglobulin superfamily member 1 0.608 0.500 1.00
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
kinesin family member 21A 0.653 0.423 2.9E-08
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis
disease 0.010 None 1.000 1 0 2000 2000