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: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		disease Congenital Abnormality 2 0.070 None 1.000 7 2005 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2001 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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019
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
CUI: C4255008
Disease: Multiple osteochondroma of long bone
Multiple osteochondroma of long bone 		disease Neoplastic Process 2 0.020 None 1.000 2 2012 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2018 2018
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: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2007 2007
CUI: C0276622
Disease: Acute viral hepatitis
Acute viral hepatitis 		disease Disease or Syndrome 15 0.010 None 1.000 1 2005 2005
CUI: C0281902
Disease: maladjustment
maladjustment 		phenotype Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2019 2019
CUI: C0455825
Disease: Left ventricular mass
Left ventricular mass 		phenotype Finding 5 8 0.100 None 1.000 1 1 2011 2011
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
CUI: C0577573
Disease: Mass of body region
Mass of body region 		phenotype Sign or Symptom 22 0.010 None 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 3 2018 2018
CUI: C0857841
Disease: Vaccinia virus infection
Vaccinia virus infection 		disease Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 1995 1995
CUI: C2242656
Disease: HBV coinfection
HBV coinfection 		disease Disease or Syndrome 11 0.010 None 1.000 1 2000 2000
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		disease Disease or Syndrome 6 11 0.010 None 1.000 1 2015 2015
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2001 2001