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: 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 3 0 1983 2011
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 1 0 1978 2020
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 1 0 1988 2017
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 2 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 1 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 1 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 2 0 1988 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease 0.400 None 1.000 1 0 2003 2003
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.310 None 1.000 2 0 2003 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		disease 0.310 None 1.000 1 0 2003 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease 0.300 None 1.000 2 0 2003 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype 0.300 None 1.000 2 0 2003 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		disease 0.300 None 1.000 2 0 2003 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease 0.300 None 1.000 2 0 2003 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C2931803
Disease: Deletion 11p13
Deletion 11p13 		disease 0.300 None 1.000 1 0 2013 2013