SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
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: 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 0.750 None 1.000 15 19 1996 2018
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.500 None 0.929 28 2 2003 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.980 51 1 2011 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0.960 50 1 2011 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 8 1 2005 2016
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 0.160 None 0.667 6 1 2008 2014
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 59 6 0.140 None 1.000 4 1 2006 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 1 2011 2011
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 1 2010 2010
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 1 2011 2011
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.100 None 0 1
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 0 1
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.100 None 0 1
CUI: C1859774
Disease: Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 39 24 0.100 None 0 1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.972 179 2007 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.973 146 2009 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.971 136 2009 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 69 2006 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.983 58 2006 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 52 2006 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.100 None 0.979 47 2009 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.100 None 1.000 43 2009 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.400 None 1.000 41 2009 2019
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.100 None 1.000 31 2007 2019