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: 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: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		disease Congenital Abnormality 2 0.050 None 1.000 5 2005 2019
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: C1835579
Disease: Rib exostoses
Rib exostoses 		phenotype Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C1851414
Disease: Peripheral nerve compression
Peripheral nerve compression 		phenotype Finding 2 0.100 None 0
CUI: C1851415
Disease: Scapular exostoses
Scapular exostoses 		disease Musculoskeletal Diseases Neoplastic Process 2 0.100 None 0
CUI: C1851418
Disease: Protuberances at ends of long bones
Protuberances at ends of long bones 		phenotype Finding 2 0.100 None 0
CUI: C1851419
Disease: Madelung-like forearm deformities
Madelung-like forearm deformities 		phenotype Finding 2 0.100 None 0
CUI: C1856886
Disease: Hypoplastic philtrum
Hypoplastic philtrum 		phenotype Finding 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: 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 0.700 definitive 1.000 37 27 1995 2018
CUI: C1844689
Disease: Pelvic bone exostoses
Pelvic bone exostoses 		disease Musculoskeletal Diseases Neoplastic Process 3 0.100 None 0
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: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		disease Neoplastic Process 6 0.010 None 1.000 1 2007 2007
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.100 None 0
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 1 0.100 None 0.920 25 2005 2019
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 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: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		disease Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2014 2014
CUI: C1859399
Disease: Radial bowing
Radial bowing 		phenotype Anatomical Abnormality 19 2 0.100 None 0
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: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2005 2005
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