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: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.140 None 1.000 0 0 2010 2014
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.120 None 1.000 0 0 2011 2014
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.120 None 1.000 0 0 2011 2013
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype 0.100 None 0 0