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: C1266176
Disease: Atypical choroid plexus papilloma
Atypical choroid plexus papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1333100
Disease: Squamous cell carcinoma of colon
Squamous cell carcinoma of colon
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 8 0.300 limited 0
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: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms
group Neoplasms Neoplastic Process 3 0.300 None 1.000 1 2015 2015
Salivary Gland Carcinoma ex Pleomorphic Adenoma
disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
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: 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: C0015411
Disease: Eye Manifestations
Eye Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 7 2 0.010 None 1.000 1 2018 2018
Phosphoglycerate Dehydrogenase Deficiency
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 7 9 0.010 None 1.000 1 2018 2018
CUI: C1112356
Disease: Bronchial dysplasia
Bronchial dysplasia
disease Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1112474
Disease: Small cell carcinoma of esophagus
Small cell carcinoma of esophagus
disease Neoplastic Process 8 5 0.010 None 1.000 1 2017 2017
CUI: C1336084
Disease: Squamous Lung Dysplasia
Squamous Lung Dysplasia
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 8 0.010 None 1.000 1 2017 2017
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 1.000 1 2014 2014
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 1.000 1 2014 2014
CUI: C0231706
Disease: Circling gait
Circling gait
phenotype Sign or Symptom 9 1 0.010 None 1.000 1 2004 2004
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 15 0.010 None 1.000 1 2016 2016
Microphthalmia and mental deficiency
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 6 0.010 None 1.000 1 2010 2010
Microphthalmos co-occurrent with congenital ocular coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 6 0.010 None 1.000 1 2010 2010
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.010 None 1.000 1 2010 2010
Cystic Adenomatoid Malformation of Lung, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.010 None 1.000 1 2014 2014
CUI: C0345397
Disease: Accessory rib
Accessory rib
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
phenotype Congenital Abnormality 13 2 0.100 None 0
CUI: C0742034
Disease: cerebellar function
cerebellar function
disease Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater
disease Neoplasms Neoplastic Process 15 1 0.010 None 1.000 1 2006 2006