SOX5, SRY-box transcription factor 5, 6660

N. diseases: 150; N. variants: 37
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: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.420 None 1.000 3 1 2010 2018
CUI: C4225202
Disease: LAMB-SHAFFER SYNDROME
LAMB-SHAFFER SYNDROME
disease Disease or Syndrome 5 7 0.420 None 1.000 3 7 2015 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.410 None 1.000 2 1 2014 2015
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 157 1 0.300 None 1.000 1 2010 2010
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 156 0.300 None 1.000 1 2010 2010
Developmental and speech delay due to SOX5 deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome
disease Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.300 None 1.000 1 2010 2010
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 1 2010 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.150 None 1.000 5 2013 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.140 None 1.000 4 2013 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.110 None 1.000 1 2015 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.110 None 1.000 1 1 2011 2011
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 168 88 0.110 None 1.000 1 3 2011 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 6 1 2012 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 5 2015 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 3 3 2018 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 4 2017 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 1.000 1 1 2015 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 1 2011 2011
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 1.000 1 1 2011 2011