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: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 2 2009 2011
CUI: C1333859
Disease: Grade 2 Colon Adenocarcinoma
Grade 2 Colon Adenocarcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
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: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
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: 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: C0796184
Disease: Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C0240309
Disease: Hyperplasia of midface
Hyperplasia of midface 		disease Anatomical Abnormality 4 2 0.100 None 0 1
CUI: C4021029
Disease: Conspicuously happy disposition
Conspicuously happy disposition 		phenotype Finding 4 0.100 None 0
CUI: C0003614
Disease: Appendiceal Neoplasms
Appendiceal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 5 0.020 None 1.000 2 2017 2020
CUI: C0855052
Disease: Extraskeletal Osteosarcoma
Extraskeletal Osteosarcoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2013 2013
CUI: C1708747
Disease: Low grade appendiceal mucinous neoplasm
Low grade appendiceal mucinous neoplasm 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1333112
Disease: Colorectal Intraepithelial Neoplasia
Colorectal Intraepithelial Neoplasia 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C4551593
Disease: Surface epithelial-stromal tumor
Surface epithelial-stromal tumor 		disease Neoplasms Neoplastic Process 6 1 0.010 None 1.000 1 2019 2019
CUI: C1838027
Disease: Incomprehensible speech
Incomprehensible speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 0.100 None 0
CUI: C0496779
Disease: Malignant neoplasm of appendix
Malignant neoplasm of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 2 0.010 None 1.000 1 2018 2018
CUI: C1300347
Disease: Atypical polypoid adenomyoma
Atypical polypoid adenomyoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1306050
Disease: Primary malignant neoplasm of appendix
Primary malignant neoplasm of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 2 0.010 None 1.000 1 2018 2018
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0
CUI: C1334811
Disease: Mucinous neoplasm
Mucinous neoplasm 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0376356
Disease: Premenstrual Tension
Premenstrual Tension 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C1856115
Disease: Happy demeanor
Happy demeanor 		phenotype Finding 10 1 0.100 None 0
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor 		disease Neoplastic Process 11 1 0.020 None 1.000 2 2017 2018
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.010 None 1.000 1 2019 2019
CUI: C0279622
Disease: Small cell osteosarcoma
Small cell osteosarcoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2015 2015