SOX6, SRY-box transcription factor 6, 55553

N. diseases: 105; N. variants: 46
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: C4225202
Disease: LAMB-SHAFFER SYNDROME
LAMB-SHAFFER SYNDROME
disease Disease or Syndrome 5 7 0.010 None 1.000 1 2019 2019
CUI: C0039147
Disease: Syrinx formation
Syrinx formation
disease Anatomical Abnormality 18 0.010 None 1.000 1 2014 2014
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
disease Nervous System Diseases Disease or Syndrome 28 33 0.010 None 1.000 1 2015 2015
CUI: C0039144
Disease: Syringomyelia
Syringomyelia
disease Nervous System Diseases Disease or Syndrome 35 4 0.010 None 1.000 1 2014 2014
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2019 2019
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2018 2018
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.010 None 1.000 1 2019 2019
CUI: C0152020
Disease: Gastroparesis
Gastroparesis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 95 7 0.010 None 1.000 1 2018 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 3 4 2011 2013
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 None 1.000 1 2013 2013
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 2 2018 2018
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 6 2018 2018
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.010 None 1.000 1 2017 2017
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
phenotype Finding 146 344 0.100 None 1.000 2 3 2018 2018
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.020 None 1.000 2 2018 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.030 None 1.000 3 2017 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 6 2018 2018
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.010 None 1.000 1 1 2016 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 3 2016 2016
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 1 2019 2019
CUI: C0021670
Disease: insulinoma
insulinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None 1.000 1 2007 2007
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 2 3 2016 2018
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 2 2012 2012
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.020 None 1.000 2 2018 2018