PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: Severe intellectual disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051881
rs796051881
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0036857
Disease:
Severe intellectual disability 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015