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: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 CausalMutation CLINVAR
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: 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: 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: 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
dbSNP: rs104894472
rs104894472
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
dbSNP: rs104894472
rs104894472
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894472
rs104894472
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894473
rs104894473
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894473
rs104894473
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894473
rs104894473
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
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: 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: rs104894474
rs104894474
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
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: 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: rs104894475
rs104894475
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894475
rs104894475
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
dbSNP: rs104894475
rs104894475
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894475
rs104894475
Entrez Id: 10243;145226
Gene Symbol: GPHN;RDH12
GPHN;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
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: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004