rs139444207, PDE6A

N. diseases: 2
Disease: RETINITIS PIGMENTOSA 43 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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