Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 0.700 None 0.977 86 0 1994 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		disease 0.700 definitive 1.000 37 27 1995 2018
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		disease 0.700 None 1.000 4 6 2002 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		disease 0.340 None 1.000 4 0 2001 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 0.310 None 1.000 1 0 2017 2017
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype 0.200 None 1.000 10 0 1998 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease 0.160 None 1.000 6 1 1999 2017
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease 0.120 None 1.000 2 0 2005 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2019 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 1 2015 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis 		disease 0.100 None 0.920 25 0 2005 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		disease 0.100 None 1.000 21 0 1998 2017
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 1.000 13 0 1995 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.100 None 0.667 12 3 2007 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0015302
Disease: External exotoses
External exotoses 		disease 0.100 None 1.000 10 0 1998 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1835579
Disease: Rib exostoses
Rib exostoses 		phenotype 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0