rs104894475, GPHN;RDH12

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
0.800 GeneticVariation UNIPROT Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
LEBER CONGENITAL AMAUROSIS 13
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
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
0.800 CausalMutation CLINVAR
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
0.800 CausalMutation CLINVAR
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019