Source: CLINVAR

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 0 14 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 0 2 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 0 2 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 0 4 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 0 2 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 0 3 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 32 25 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 0 4 1988 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.190 None 0.900 1 1 1994 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.160 None 1.000 2 3 1994 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.140 None 1.000 0 1 2000 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4017065
Disease: Autosomal dominant keratitis
Autosomal dominant keratitis 		disease 0.120 None 1.000 0 1 1995 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		disease 0.100 None 1.000 32 85 1993 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4017657
Disease: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4017067
Disease: FOVEAL HYPOPLASIA 1 WITH CATARACT
FOVEAL HYPOPLASIA 1 WITH CATARACT 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
ANIRIDIA, ATYPICAL 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C3805349
Disease: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		disease 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C4310884
Disease: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES 		disease 0.100 None 0 1