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: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C4023456
Disease: Vertical forehead creases
Vertical forehead creases 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		phosphatidylinositol glycan anchor biosynthesis class S 0.705 0.346 1.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0