PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.320 strong 1.000 3 1995 2015
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.030 None 1.000 3 2006 2018
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.310 None 1.000 3 2003 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 3 1995 1997
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 0.030 None 1.000 3 1994 2004
CUI: C0020636
Disease: underdevelopment
underdevelopment 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 0.020 None 1.000 2 2006 2007
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.020 None 1.000 2 2012 2014
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 10 0.020 None 1.000 2 2006 2013
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 0.300 None 1.000 2 2003 2006
CUI: C0524730
Disease: Odontome
Odontome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 2 1995 1997
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.020 None 1.000 2 3 2017 2020
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 11 0.300 None 1.000 2 2003 2006
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease Congenital Abnormality 5 0.300 None 1.000 2 2003 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1988 1988
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2006 2006
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.110 None 1.000 1 2010 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2004 2004
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.010 None 1.000 1 2008 2008
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.010 None 1.000 1 1989 1989
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2011 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.010 None 1.000 1 2005 2005
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2009 2009
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.110 None 1.000 1 2003 2003
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 6 0.010 None 1.000 1 2017 2017
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.110 None 1.000 1 2004 2004