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: 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: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2002 2017
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2019 2019
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		disease Neoplastic Process 6 0.010 None 1.000 1 2007 2007
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 1
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1851414
Disease: Peripheral nerve compression
Peripheral nerve compression 		phenotype Finding 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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C1856886
Disease: Hypoplastic philtrum
Hypoplastic philtrum 		phenotype Finding 2 0.100 None 0
CUI: C1859399
Disease: Radial bowing
Radial bowing 		phenotype Anatomical Abnormality 19 2 0.100 None 0
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		phenotype Finding 23 3 0.100 None 0