RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		0.100 Biomarker disease HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.100 Biomarker disease HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3150208
Disease: RETINITIS PIGMENTOSA 53
RETINITIS PIGMENTOSA 53 		0.100 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		0.100 Biomarker phenotype HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 Biomarker phenotype HPO
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 GeneticVariation disease UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group BEFREE Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 CausalMutation group CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 CausalMutation phenotype CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.010 GeneticVariation disease BEFREE The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase. 15258582 2004
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		0.010 GeneticVariation disease BEFREE The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase. 15258582 2004