RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894470
rs104894470
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		0.010 GeneticVariation BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517 2007
dbSNP: rs104894474
rs104894474
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		0.010 GeneticVariation BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517 2007
dbSNP: rs17852293
rs17852293
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation BEFREE A novel compound heterozygote T49M/A269fsX270 mutation was also found in a patient with LCA, and both homozygous and heterozygous R161Q changes were seen in 26 patients affected with LCA, CORD or RP. 17512964 2007
dbSNP: rs373032226
rs373032226
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation BEFREE Of the six changes identified, three were novel including a homozygous C201R change in a patient affected with LCA, a heterozygous A177V change in patients affected with CORD and a heterozygous G46G change in a patient affected with LCA. 17512964 2007
dbSNP: rs373032226
rs373032226
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		0.010 GeneticVariation BEFREE Of the six changes identified, three were novel including a homozygous C201R change in a patient affected with LCA, a heterozygous A177V change in patients affected with CORD and a heterozygous G46G change in a patient affected with LCA. 17512964 2007
dbSNP: rs104894474
rs104894474
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs104894475
rs104894475
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038 2017
dbSNP: rs104894474
rs104894474
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 26355662 2016
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
dbSNP: rs368489658
rs368489658
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.700 GeneticVariation UNIPROT Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. 26124963 2015
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011
dbSNP: rs971610277
rs971610277
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		A 0.700 GeneticVariation CLINVAR RDH12 retinopathy: novel mutations and phenotypic description. 22065924 2011
dbSNP: rs368489658
rs368489658
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.700 GeneticVariation UNIPROT Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 19140180 2009
dbSNP: rs368489658
rs368489658
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.700 GeneticVariation UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
dbSNP: rs104894474
rs104894474
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. 17389517 2007
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. 17389517 2007
dbSNP: rs794729650
rs794729650
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 GeneticVariation CLINVAR Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524 2007
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.700 CausalMutation CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894471
rs104894471
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004