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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. 26496393

2015
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. 26321862

2015