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: C1335938
Disease: Secondary Chondrosarcoma
Secondary Chondrosarcoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2014 2014
CUI: C2959480
Disease: Necrotizing lymphadenitis
Necrotizing lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		disease Congenital Abnormality 2 0.070 None 1.000 7 2005 2019
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: 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: C0403443
Disease: Renal Failure, Progressive, with Hypertension
Renal Failure, Progressive, with Hypertension 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C1835579
Disease: Rib exostoses
Rib exostoses 		phenotype Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: 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 0.040 None 1.000 4 2000 2019
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 2006 2006
CUI: C0455825
Disease: Left ventricular mass
Left ventricular mass 		phenotype Finding 5 8 0.100 None 1.000 1 1 2011 2011
CUI: C0520788
Disease: Posttransfusion viral hepatitis
Posttransfusion viral hepatitis 		disease Digestive System Diseases; Infections Disease or Syndrome 5 0.010 None 1.000 1 2000 2000
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: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		disease Neoplastic Process 6 0.020 None 1.000 2 2007 2012
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: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 1 2010 2010
CUI: C0038165
Disease: Staphylococcal Scalded Skin Syndrome
Staphylococcal Scalded Skin Syndrome 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 1997 1997
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 0.010 None 1.000 1 1999 1999
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