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: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
disease Infections Disease or Syndrome 192 1 0.010 None 1.000 1 2018 2018
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor
disease Neoplasms Neoplastic Process 68 2 0.020 None 1.000 2 2009 2013
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2011 2011
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0014078
Disease: Venezuelan equine encephalomyelitis
Venezuelan equine encephalomyelitis
disease Infections; Nervous System Diseases Disease or Syndrome 34 0.010 None 1.000 1 2018 2018
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2015 2015
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2017 2017
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.010 None 1.000 1 2019 2019
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.110 None 1.000 1 2018 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.020 None 1.000 2 2014 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 1.000 21 2010 2020
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.100 None 1.000 11 2011 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.983 58 2006 2020
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.060 None 1.000 6 2018 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.060 None 1.000 6 2018 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2006 2006
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2018 2018
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.100 None 0
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis
disease Infections Disease or Syndrome 112 0.010 None 1.000 1 2018 2018
CUI: C0558353
Disease: Tongue Carcinoma
Tongue Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 157 2 0.010 None 1.000 1 2019 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2020 2020
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 2019 2019
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 82 8 0.010 None 1.000 1 2019 2019
CUI: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms
group Neoplasms Neoplastic Process 3 0.300 None 1.000 1 2015 2015