Source: INFERRED

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: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 1.000 definitive 0.977 34 48 1989 2019
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease 0.800 None 0.947 0 1 1995 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2002 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.110 None 1.000 0 0 1995 1995
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 2 1 2019 2019
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0455825
Disease: Left ventricular mass
Left ventricular mass 		phenotype 0.100 None 1.000 1 1 2011 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype 0.100 None 1.000 1 3 2018 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1859399
Disease: Radial bowing
Radial bowing 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1844689
Disease: Pelvic bone exostoses
Pelvic bone exostoses 		disease 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1851419
Disease: Madelung-like forearm deformities
Madelung-like forearm deformities 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C1851414
Disease: Peripheral nerve compression
Peripheral nerve compression 		phenotype 0.100 None 0 0