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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2017 2017
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2015 2015
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer
disease Neoplasms Neoplastic Process 44 0.010 None 1.000 1 2014 2014
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2018 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2017 2017
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2017 2017
CUI: C0742034
Disease: cerebellar function
cerebellar function
disease Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2011 2011
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
group Eye Diseases Disease or Syndrome 71 75 0.010 None 1.000 1 2007 2007
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.010 None 1.000 1 2018 2018
Multiple Sclerosis, Relapsing-Remitting
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 206 7 0.010 None 1.000 1 2012 2012
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2011 2011
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.010 None 1.000 1 2007 2007
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 2018 2018
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder
phenotype Nervous System Diseases Sign or Symptom 22 1 0.010 None 1.000 1 2019 2019
CUI: C0558353
Disease: Tongue Carcinoma
Tongue Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 157 2 0.010 None 1.000 1 2019 2019
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 34 11 0.010 None 1.000 1 2017 2017
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2018 2018
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
disease Neoplasms Neoplastic Process 48 6 0.010 None 1.000 1 2017 2017
CUI: C0085138
Disease: Choroid Plexus Neoplasms
Choroid Plexus Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 19 0.010 None 1.000 1 2017 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.010 None 1.000 1 2017 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2018 2018
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.010 None < 0.001 1 2008 2008
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2017 2017
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis
disease Infections Disease or Syndrome 112 0.010 None 1.000 1 2018 2018