rs139444207, PDE6A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602 2010
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 10393062 1999
RETINITIS PIGMENTOSA 43
CUI: C3151139
Disease: RETINITIS PIGMENTOSA 43
0.700 GeneticVariation UNIPROT Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 10393062 1999
RETINITIS PIGMENTOSA 43
CUI: C3151139
Disease: RETINITIS PIGMENTOSA 43
0.700 GeneticVariation UNIPROT Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 7493036 1995