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:0012675	HP:0012675	Iron accumulation in brain	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0012675	HP:0012675	Iron accumulation in brain	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration		16
HP:0012675	HP:0012675	Iron accumulation in brain	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0012675	HP:0012675	Iron accumulation in brain	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0012675	HP:0012675	Iron accumulation in brain	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0012675	HP:0012675	Iron accumulation in brain	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0012675	HP:0012675	Iron accumulation in brain	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040281 - Very frequent	33
HP:0012675	HP:0012675	Iron accumulation in brain	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012675	HP:0012675	Iron accumulation in brain	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0012675	HP:0012675	Iron accumulation in brain	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0012675	HP:0012675	Iron accumulation in brain	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0012675	HP:0012675	Iron accumulation in brain	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0012675	HP:0012675	Iron accumulation in brain	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional	133
HP:0012675	HP:0012675	Iron accumulation in brain	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0012675	HP:0012675	Iron accumulation in brain	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0012675	HP:0012675	Iron accumulation in brain	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0012675	HP:0012675	Iron accumulation in brain	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0012675	HP:0012675	Iron accumulation in brain	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012675	HP:0012675	Iron accumulation in brain	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0012675	HP:0012678	Iron accumulation in substantia nigra	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0012675	HP:0012678	Iron accumulation in substantia nigra	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0012675	HP:0002454	Eye of the tiger anomaly of globus pallidus	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012675	HP:0012678	Iron accumulation in substantia nigra	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0012675	HP:0012678	Iron accumulation in substantia nigra	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51