Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		disease 0.700 None 1.000 1 0 2009 2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease 0.510 strong 1.000 0 0 1995 1995
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		disease 0.500 strong 0 0