Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002464	HP:0002464	Spastic dysarthria	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0002464	HP:0002464	Spastic dysarthria	0	ALDH18A1 CL E G H	5832	447757				ORPHA	1	586	9722	138250
HP:0002464	HP:0002464	Spastic dysarthria	0	ALS2 CL E G H	57679	247604				ORPHA	1	947	443	606352
HP:0002464	HP:0002464	Spastic dysarthria	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	947	443	606352
HP:0002464	HP:0002464	Spastic dysarthria	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	947	443	606352
HP:0002464	HP:0002464	Spastic dysarthria	0	AP4B1 CL E G H	10717	280763				ORPHA	1	403	572	607245
HP:0002464	HP:0002464	Spastic dysarthria	0	AP4E1 CL E G H	23431	280763				ORPHA	1	509	573	607244
HP:0002464	HP:0002464	Spastic dysarthria	0	AP4M1 CL E G H	9179	280763				ORPHA	1	429	574	602296
HP:0002464	HP:0002464	Spastic dysarthria	0	AP4S1 CL E G H	11154	280763				ORPHA	1	148	575	607243
HP:0002464	HP:0002464	Spastic dysarthria	0	ATP2B3 CL E G H	492	314978				ORPHA	1	352	816	300014
HP:0002464	HP:0002464	Spastic dysarthria	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0002464	HP:0002464	Spastic dysarthria	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	87	10561	603680
HP:0002464	HP:0002464	Spastic dysarthria	0	ERLIN2 CL E G H	11160	247604				ORPHA	1	191	1356	611605
HP:0002464	HP:0002464	Spastic dysarthria	0	GBA2 CL E G H	57704	352641				ORPHA	1	355	18986	609471
HP:0002464	HP:0002464	Spastic dysarthria	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	860	4283	304040
HP:0002464	HP:0002464	Spastic dysarthria	0	GLRX5 CL E G H	51218	401866				ORPHA	1	111	20134	609588
HP:0002464	HP:0002464	Spastic dysarthria	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	272	6783	159460
HP:0002464	HP:0002464	Spastic dysarthria	0	MARS2 CL E G H	92935	314603				ORPHA	1	204	25133	609728
HP:0002464	HP:0002464	Spastic dysarthria	0	PEX6 CL E G H	5190	95433				ORPHA	1	1458	8859	601498
HP:0002464	HP:0002464	Spastic dysarthria	0	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0002464	HP:0002464	Spastic dysarthria	0	PRNP CL E G H	5621	282166				ORPHA	1	191	9449	176640
HP:0002464	HP:0002464	Spastic dysarthria	0	RAB3GAP2 CL E G H	25782	401830				ORPHA	1	671	17168	609275
HP:0002464	HP:0002464	Spastic dysarthria	0	SLC52A2 CL E G H	79581	95433				ORPHA	1	520	30224	607882
HP:0002464	HP:0002464	Spastic dysarthria	0	SPART CL E G H	23111	101000				ORPHA	1	353	18514	607111
HP:0002464	HP:0002464	Spastic dysarthria	0	SPG7 CL E G H	6687	35689				ORPHA	1	966	11237	602783
HP:0002464	HP:0002464	Spastic dysarthria	0	TDP1 CL E G H	55775	94124				ORPHA	1	235	18884	607198
HP:0002464	HP:0002464	Spastic dysarthria	0	VAMP1 CL E G H	6843	251282				ORPHA	1	141	12642	185880
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002464	HP:0002464	Spastic dysarthria	0	ALDH18A1 CL E G H	5832	447753				ORPHA	0	586	9722	138250
HP:0002464	HP:0002464	Spastic dysarthria	0	GBA2 CL E G H	57704	320391				ORPHA	0	355	18986	609471