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: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C3266021
Disease: Mixed astigmatism
Mixed astigmatism 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0