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:0003162	HP:0003162	Fasting hypoglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0003162	HP:0003162	Fasting hypoglycemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0003162	HP:0003162	Fasting hypoglycemia	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003162	HP:0003162	Fasting hypoglycemia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0003162	HP:0003162	Fasting hypoglycemia	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0003162	HP:0003162	Fasting hypoglycemia	0	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.	100
HP:0003162	HP:0003162	Fasting hypoglycemia	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0003162	HP:0003162	Fasting hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0003162	HP:0003162	Fasting hypoglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0003162	HP:0003162	Fasting hypoglycemia	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0003162	HP:0003162	Fasting hypoglycemia	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0003162	HP:0003162	Fasting hypoglycemia	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0003162	HP:0003162	Fasting hypoglycemia	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0003162	HP:0003162	Fasting hypoglycemia	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0003162	HP:0003162	Fasting hypoglycemia	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0003162	HP:0003162	Fasting hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0003162	HP:0003162	Fasting hypoglycemia	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0003162	HP:0003162	Fasting hypoglycemia	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0003162	HP:0003162	Fasting hypoglycemia	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003162	HP:0003162	Fasting hypoglycemia	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0003162	HP:0003162	Fasting hypoglycemia	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003162	HP:0003162	Fasting hypoglycemia	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0003162	HP:0003162	Fasting hypoglycemia	0	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria	.	71
HP:0003162	HP:0003162	Fasting hypoglycemia	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0003162	HP:0003162	Fasting hypoglycemia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent	71
HP:0003162	HP:0003162	Fasting hypoglycemia	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57