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: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 32 51 1.000 definitive 0.977 130 50 1989 2019
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 47 2 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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.800 None 0.947 19 2 1995 2018
CUI: C0015302
Disease: External exotoses
External exotoses
disease Musculoskeletal Diseases Disease or Syndrome 109 0.100 None 1.000 18 2000 2015
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.600 strong 1.000 13 1995 2018
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas
disease Congenital Abnormality 2 0.070 None 1.000 7 2005 2019
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
disease Digestive System Diseases; Infections Disease or Syndrome 451 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 3 27 0.040 None 1.000 4 2000 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.030 None 1.000 3 2004 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 1999 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.020 None 1.000 2 2000 2004
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
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.020 None 1.000 2 2016 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.020 None 1.000 2 2010 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.320 None 1.000 2 2004 2017
CUI: C0265255
Disease: Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 1995 2014
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: C0432282
Disease: Dysplasia epiphysealis hemimelica
Dysplasia epiphysealis hemimelica
disease Musculoskeletal Diseases Disease or Syndrome 2 0.020 None 1.000 2 2006 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 0.500 2 2017 2018
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: C0814152
Disease: Viral hepatitis, type G
Viral hepatitis, type G
disease Infections Disease or Syndrome 11 0.020 None 1.000 2 2000 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1997 2012
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.020 None 1.000 2 2018 2018
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma
disease Neoplastic Process 6 0.020 None 1.000 2 2007 2012