Source: HPO

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: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease 0.130 None 1.000 0 0 2014 2018
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2014 2014
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1845250
Disease: Small forehead
Small forehead 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0