Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation CLINVAR Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. 25775262

2015
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation CLINVAR Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. 23134348

2013
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602

2010
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 CausalMutation CLINVAR Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. 17110911

2006
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.900 GeneticVariation CLINVAR Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 10393062

1999