PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5. 26220973 2015
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 GermlineCausalMutation disease ORPHANET Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5. 26220973 2015
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. 18712838 2009
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 Biomarker disease CTD_human
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 CausalMutation disease CLINVAR