Source: INFERRED

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: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		disease 0.600 None 1.000 33 94 1997 2017
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 18 56 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 17 11 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		disease 0.100 None 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 0 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0015310
Disease: Exotropia
Exotropia 		disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0