SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
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: C0236828
Disease: Articulation Disorders, Developmental
Articulation Disorders, Developmental 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2005 2005
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2000 2000
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 2017 2017
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2017 2017
CUI: C0751177
Disease: Cancer of Head
Cancer of Head 		disease Neoplasms Neoplastic Process 35 0.010 None 1.000 1 2019 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2014 2014
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2018 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2017 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2016 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2016 2016
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2019 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2004 2004
CUI: C0558356
Disease: Malignant melanoma of eye
Malignant melanoma of eye 		disease Neoplasms; Eye Diseases Neoplastic Process 38 0.010 None 1.000 1 2019 2019
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.010 None 1.000 1 2005 2005
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2019 2019
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		disease Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2011 2011
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.010 None 1.000 1 2014 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2016 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.010 None 1.000 1 2019 2019
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.010 None 1.000 1 2010 2010
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 2000 2000
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2000 2000
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.010 None 1.000 1 2007 2007
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2014 2014
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 1978 1978