Source: CLINVAR

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: 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: C3150208
Disease: RETINITIS PIGMENTOSA 53
RETINITIS PIGMENTOSA 53 		disease 0.100 None 0 1