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:0031884	HP:0031884	Abnormal CSF glucose concentration	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome		255
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects		255
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0031884	HP:0031884	Abnormal CSF glucose concentration	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0031884	HP:0031885	Hyperglycorrhachia	1	CL E G H
HP:0031884	HP:0011972	Hypoglycorrhachia	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent	255
HP:0031884	HP:0011972	Hypoglycorrhachia	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0031884	HP:0011972	Hypoglycorrhachia	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0031884	HP:0011972	Hypoglycorrhachia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0031884	HP:0011972	Hypoglycorrhachia	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0031884	HP:0011972	Hypoglycorrhachia	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0031884	HP:0011972	Hypoglycorrhachia	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0031884	HP:0011972	Hypoglycorrhachia	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0031884	HP:0011972	Hypoglycorrhachia	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0031884	HP:0011972	Hypoglycorrhachia	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5