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:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0100321	HP:0100321	Abnormal dentate nucleus morphology	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0100321	HP:0007047	Atrophy of the dentate nucleus	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0100321	HP:0002461	Dense calcifications in the cerebellar dentate nucleus	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0100321	HP:0007047	Atrophy of the dentate nucleus	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27