SIX6, SIX homeobox 6, 4990

N. diseases: 84; N. variants: 4
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: C4225424
Disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY 		disease Disease or Syndrome 2 2 0.600 None 1.000 3 2 2004 2015
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.300 None 1.000 1 2013 2013
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 0
CUI: C1859311
Disease: Microphthalmia, Isolated, with Cataract 2
Microphthalmia, Isolated, with Cataract 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 19 0.300 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.140 None 0.750 4 1 2004 2019
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.120 None 0.500 2 2004 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.120 None 1.000 2 1999 2001
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		disease Eye Diseases Disease or Syndrome 130 236 0.110 None 1.000 2 1 2015 2016
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.100 None 1.000 15 2 2006 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.100 None 0
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 0.100 None 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.100 None 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 4 0.100 None 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.100 None 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0