EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
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: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C4025754
Disease: Abnormal pericardium morphology
Abnormal pericardium morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.110 None 1.000 1 1995 1995
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis 		disease Digestive System Diseases Disease or Syndrome 62 2 0.020 None 1.000 2 2000 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.020 None 1.000 2 2016 2019
CUI: C0276434
Disease: Acute type A viral hepatitis
Acute type A viral hepatitis 		disease Digestive System Diseases; Infections Disease or Syndrome 10 0.010 None 1.000 1 2005 2005
CUI: C0276622
Disease: Acute viral hepatitis
Acute viral hepatitis 		disease Disease or Syndrome 15 0.010 None 1.000 1 2005 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2007 2007
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.020 None 1.000 2 2016 2019
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2016 2016
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2014 2014
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0003431
Disease: Antisocial Personality Disorder
Antisocial Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 63 6 0.010 None 1.000 1 2014 2014
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2017 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.200 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 1 2002 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.020 None 1.000 2 2006 2019