Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0003649	HP:0003649	Abnormality of glycoside metabolism	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0003649	HP:0004342	Abnormality of galactoside metabolism	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040280 - Obligate	120
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0003649	HP:0008166	Decreased beta-galactosidase activity	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120