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: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.430 None 1.000 0 0 2002 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.200 None 1.000 0 0 1995 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.180 None 1.000 0 0 2002 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.150 None 1.000 0 0 1992 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.150 None 1.000 0 0 2002 2008
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease 0.110 None 1.000 0 0 1992 1992
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0741796
Disease: Recurrent bronchitis
Recurrent bronchitis 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0423428
Disease: Scarred macula
Scarred macula 		phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype 0.100 None 0 0