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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.110 None 1.000 2 1 2018 2019
CUI: C0039147
Disease: Syrinx formation
Syrinx formation 		disease Anatomical Abnormality 18 0.010 None 1.000 1 2014 2014
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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 8 8 2013 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 8 8 2013 2019
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 1 6 2018 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2015 2015
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: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.140 None 1.000 4 2 2009 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: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.130 None 1.000 3 2 2009 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2019 2019
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2019 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2017 2017
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 1 2016 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 1 2016 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 1 2019 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 1 2006 2006
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1 2016 2016
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2020 2020