rs555600300, PDE6B

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 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643 1998
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075 1996
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 8956055 1996
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 8557257 1996
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 8595886 1995
RETINITIS PIGMENTOSA 40 (disorder)
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
0.700 GeneticVariation UNIPROT Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174 1993