PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 Biomarker disease HPO
CUI: C0003076
Disease: Aniridia
Aniridia 		1.000 CausalMutation disease CLINVAR
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		1.000 Biomarker disease CTD_human
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		1.000 Biomarker disease HPO
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.800 Biomarker disease CTD_human
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.750 CausalMutation disease CLINVAR
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.750 Biomarker disease CTD_human
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease HPO
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease CTD_human
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 CausalMutation disease CLINVAR
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease CTD_human
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 CausalMutation disease CLINVAR
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.700 Biomarker disease CTD_human
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.700 CausalMutation disease CLINVAR
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		0.600 Biomarker disease CTD_human
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.600 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease HPO
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.400 Biomarker disease HPO
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		0.400 Biomarker phenotype HPO