Source: HPO

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: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease 0.130 None 1.000 0 0 1977 2012
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.120 None 1.000 0 0 1988 2002
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None < 0.001 0 0 1992 1992
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1854786
Disease: Epiphyseal deformities of tubular bones
Epiphyseal deformities of tubular bones 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1854783
Disease: Grayish enamel
Grayish enamel 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1854787
Disease: Pointed proximal second through fifth metacarpals
Pointed proximal second through fifth metacarpals 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1846798
Disease: Cervical subluxation
Cervical subluxation 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1846433
Disease: Prominent sternum
Prominent sternum 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C1856559
Disease: Decreased beta-galactosidase activity
Decreased beta-galactosidase activity 		phenotype 0.100 None 0 0