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: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia 		disease 1.000 None 0.984 5 0 1978 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease 1.000 strong 0.938 0 0 1983 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		disease 0.800 limited 0.933 0 0 1988 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.750 None 0.875 2 0 1988 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease 0.710 None 1.000 3 0 1988 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		disease 0.700 None 1.000 3 0 1988 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		disease 0.700 None 1.000 3 0 1988 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease 0.600 None 1.000 4 0 1988 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		disease 0.600 None 1.000 3 0 1988 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		disease 0.600 None 1.000 0 0 1999 1999
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		disease 0.530 None 0.857 3 0 1988 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype 0.400 strong 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.380 None 1.000 0 0 1999 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.380 strong 1.000 0 0 2002 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0011847
Disease: Diabetes
Diabetes 		disease 0.350 strong 1.000 0 0 2002 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease 0.320 strong 1.000 1 0 1995 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		disease 0.300 limited 0 0