Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.400 Biomarker GENOMICS_ENGLAND Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 27633571

2016