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: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		disease 0.110 None 1.000 1 1 2015 2017
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0014877
Disease: Esotropia
Esotropia 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C2025392
Disease: Polar cataract
Polar cataract 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease 0.100 None 0 0