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: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		disease 0.510 None 1.000 1 0 2015 2018
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		disease 0.310 None 1.000 0 0 1998 1998
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1849094
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease 0.300 None 0 0