RDH12, retinol dehydrogenase 12, 145226

N. diseases: 7; N. variants: 20
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		disease Eye Diseases Disease or Syndrome 2 17 0.710 None 1.000 13 17 2004 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 88 420 0.660 strong 1.000 1 8 2007 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 28 90 0.500 None 1.000 0 2 2004 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 78 218 0.460 None 1.000 1 2 2004 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 20 30 0.120 None 1.000 0 1 2007 2018
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 21 29 0.100 None 1.000 1 1 2004 2004
CUI: C3150208
Disease: RETINITIS PIGMENTOSA 53
RETINITIS PIGMENTOSA 53 		disease Disease or Syndrome 1 1 0.100 None 0 1