SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.900 strong 1.000 13 1 2003 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.890 strong 1.000 12 2005 2019
Chromosome 2q32-Q33 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 25 0.700 strong 1.000 6 25 2005 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 1.000 23 2009 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.390 None 1.000 10 1 2006 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.330 None 1.000 4 2006 2019
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome
disease Disease or Syndrome 1 0.300 None 1.000 2 2009 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2019 2019
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2016 2016
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.300 None 1.000 1 2012 2012
CUI: C0432098
Disease: Cleft Soft Palate
Cleft Soft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 13 2 0.200 None 1.000 1 2006 2006
CUI: C0432090
Disease: Cleft of hard palate
Cleft of hard palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 4 0.200 None 1.000 1 2006 2006
CUI: C0266122
Disease: Cleft uvula
Cleft uvula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Congenital Abnormality 3 0.200 None 1.000 1 2006 2006
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 0.190 None 1.000 9 2014 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.130 None 1.000 8 3 2014 2019
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.130 None 1.000 3 2009 2015
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.130 None 1.000 3 2015 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2 2017 2018
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.110 None 1.000 1 2019 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.110 None 1.000 1 2019 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 1 2018 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.110 None 1.000 1 2015 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 1 2018 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.960 25 2012 2020