EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
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 0.700 None 0.977 86 1994 2019
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 1 0.100 None 0.920 25 2005 2019
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 47 2 0.100 None 1.000 21 1998 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 1995 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 0.667 12 3 2007 2015
CUI: C0015302
Disease: External exotoses
External exotoses 		disease Musculoskeletal Diseases Disease or Syndrome 109 0.100 None 1.000 10 1998 2015
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.200 None 1.000 10 1998 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.160 None 1.000 6 1 1999 2017
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		disease Congenital Abnormality 2 0.050 None 1.000 5 2005 2019
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		disease Disease or Syndrome 1 6 0.700 None 1.000 4 6 2002 2019
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 65 6 0.340 None 1.000 4 2001 2015
CUI: C4255008
Disease: Multiple osteochondroma of long bone
Multiple osteochondroma of long bone 		disease Neoplastic Process 2 0.020 None 1.000 2 2014 2016
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 5 0.120 None 1.000 2 2005 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2002 2017
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.020 None 1.000 2 2000 2000
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		group Musculoskeletal Diseases Disease or Syndrome 25 1 0.020 None 1.000 2 1997 2015
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 2165 159 0.110 None 1.000 1 2019 2019
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 2015 2015
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2011 2011
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.310 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2019 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 1 2015 2015
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2019 2019
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 5 29 0.010 None 1.000 1 2012 2012
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 69 0.010 None 1.000 1 2012 2012