Source: GENOMICS_ENGLAND

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: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		disease 0.800 strong 1.000 4 0 1977 2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		disease 0.760 strong 0.982 3 0 1979 2017
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		disease 0.730 strong 1.000 4 0 1991 2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		disease 0.720 None 1.000 3 0 1984 2017
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		disease 0.520 strong 1.000 2 0 1977 2019
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.310 strong 0.500 1 0 2003 2004