Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015