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: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		disease 0.710 None 1.000 13 17 2004 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.660 strong 1.000 1 8 2007 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.500 None 1.000 0 2 2004 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.460 None 1.000 1 2 2004 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.120 None 1.000 0 1 2007 2018
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.120 None 1.000 0 0 2007 2008
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 1.000 1 1 2004 2004
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C3150208
Disease: RETINITIS PIGMENTOSA 53
RETINITIS PIGMENTOSA 53 		disease 0.100 None 0 1
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0