PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: Chondrodysplasia Punctata, Rhizomelic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		0.110 GeneticVariation disease BEFREE There are multiple recognized types of RCDP, all of which have autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5. 27616591 2017
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		0.110 CausalMutation disease CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015