RDH12, retinol dehydrogenase 12, 145226

N. diseases: 7; N. variants: 20
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038 2017
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 26355662 2016
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 26306921 2015
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 GeneticVariation disease CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 GeneticVariation disease CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. 17389517 2007
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 GeneticVariation disease CLINVAR Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524 2007
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 GeneticVariation disease CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.710 CausalMutation disease CLINVAR Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.660 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.660 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease CLINVAR
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 CausalMutation disease CLINVAR
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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group CLINVAR
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.120 GeneticVariation disease CLINVAR
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: C3150208
Disease: RETINITIS PIGMENTOSA 53
RETINITIS PIGMENTOSA 53 		0.100 CausalMutation disease CLINVAR