Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker GENOMICS_ENGLAND In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein. 24166846

2014