Source: GENOMICS_ENGLAND

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: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		disease 0.800 strong 1.000 2 0 1997 2020
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		disease 0.720 None 1.000 5 0 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group 0.700 strong 1.000 1 0 1997 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		disease 0.600 None 1.000 7 0 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1 		disease 0.600 strong 1.000 1 0 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease 0.500 strong 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.300 moderate 1.000 1 0 2005 2005
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4478871
Disease: Hypomineralized amelogenesis imperfecta
Hypomineralized amelogenesis imperfecta 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		disease 0.300 strong 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		disease 0.300 strong 0 0