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:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto		2
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency		2
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125
HP:0003133	HP:0003133	Abnormality of the spinocerebellar tracts	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto		2
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040281 - Very frequent	2
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0003133	HP:0002503	Spinocerebellar tract degeneration	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0003133	HP:0006904	Late-onset spinocerebellar degeneration	2	GCLC CL E G H	2729	4311	OMIM:230450	Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto	.	2
HP:0003133	HP:0007232	Spinocerebellar tract disease in lower limbs	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136