Source: GENOMICS_ENGLAND

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: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.300 strong 1.000 1 0 2019 2019