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: 219844
Gene Symbol: HYLS1
HYLS1
HYLS1 centriolar and ciliogenesis associated 0.572 0.692 2.3E-09
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1
disease 0.700 None 1.000 3 1 2005 2016
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1
disease 0.300 None 0 0
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1
disease 0.100 None 0 1