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: 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: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 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: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 0 1
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2019 2019
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.100 None 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		phenotype Finding 41 0.100 None 0
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		group Neoplasms Neoplastic Process 371 7 0.010 None 1.000 1 2017 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: C0005967
Disease: Bone neoplasms
Bone neoplasms 		group Neoplasms; Musculoskeletal Diseases Neoplastic Process 151 4 0.010 None 1.000 1 1998 1998
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0 1
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0