EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 120; N. variants: 3
Source: BEFREE ×
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: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 30 2 1.000 definitive 0.977 106 1 1989 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 374 7 0.800 None 0.947 16 1 1995 2018
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 15 1 0.600 strong 1.000 12 1995 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2255 155 0.320 None 1.000 2 2004 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 864 217 0.310 None 1.000 1 2002 2002
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 1219 153 0.120 None 1.000 2 2002 2015
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 120 5 0.110 None 1.000 1 1995 1995
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 104 15 0.110 None 1.000 1 2010 2010
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 44 0.100 None 1.000 36 1998 2019
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 1 0.100 None 0.968 31 1 2004 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.100 None 0.963 27 1995 2019
CUI: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.100 None 1.000 18 2000 2015
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 21 0.100 None 1.000 18 2000 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.070 None 1.000 7 1997 2018
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		disease Congenital Abnormality 2 0.070 None 1.000 7 2005 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2000 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 951 100 0.040 None 0.500 4 1998 2000
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		disease Digestive System Diseases; Infections Disease or Syndrome 450 27 0.040 None 1.000 4 2000 2005
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 2 0.040 None 1.000 4 2000 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2001 2018
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms 		group Neoplasms; Musculoskeletal Diseases Neoplastic Process 146 4 0.030 None 1.000 3 1998 2017
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 18 2 0.030 None 1.000 3 2004 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.030 None 1.000 3 1999 2019
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: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.020 None 1.000 2 2004 2010