rs796051881, PEX5

N. diseases: 9
Disease: Severe intellectual disability ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015