Source: INFERRED

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: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C3280153
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 		disease 0.700 None 1.000 0 5 2013 2016
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype 0.100 None 0 1
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease 0.100 None 0 1
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.100 None 0 1