Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 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
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 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
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 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
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 GeneticVariation UNIPROT Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 8595886

1995
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.900 GeneticVariation UNIPROT Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174

1993