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: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		phenotype 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 1
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.100 None 0 2
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		disease 0.100 None 0 0
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease 0.100 None 0 0