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:0100314	HP:0100314	Cerebral inclusion bodies	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to		3
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2		39
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease		74
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		74
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18		2
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease		38
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease		11
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease		8
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease		50
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease		69
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		241
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		59
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body		65
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body		2
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		31
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0100314	HP:0100314	Cerebral inclusion bodies	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0100314	HP:0100319	Cerebral hyaline bodies	1	CL E G H
HP:0100314	HP:0100317	Argyrophilic inclusion bodies	1	CL E G H
HP:0100314	HP:0100316	Hirano bodies	1	CL E G H
HP:0100314	HP:0002185	Neurofibrillary tangles	1	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to	.	3
HP:0100314	HP:0002185	Neurofibrillary tangles	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0100314	HP:0100315	Lewy bodies	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0100314	HP:0002185	Neurofibrillary tangles	1	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2		39
HP:0100314	HP:0002185	Neurofibrillary tangles	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0100314	HP:0002185	Neurofibrillary tangles	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0100314	HP:0002185	Neurofibrillary tangles	1	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0100314	HP:0002185	Neurofibrillary tangles	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0100314	HP:0100315	Lewy bodies	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0100314	HP:0100315	Lewy bodies	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100314	HP:0100315	Lewy bodies	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0100314	HP:0002185	Neurofibrillary tangles	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0100314	HP:0100315	Lewy bodies	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100314	HP:0100315	Lewy bodies	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100314	HP:0100315	Lewy bodies	1	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0100314	HP:0100318	Lafora bodies	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040280 - Obligate	83
HP:0100314	HP:0100318	Lafora bodies	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0100314	HP:0100315	Lewy bodies	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional	36
HP:0100314	HP:0100315	Lewy bodies	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0100314	HP:0100315	Lewy bodies	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100314	HP:0100315	Lewy bodies	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0100314	HP:0100320	Rosenthal fibers	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0100314	HP:0100315	Lewy bodies	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0100314	HP:0100315	Lewy bodies	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100314	HP:0100315	Lewy bodies	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0100314	HP:0002185	Neurofibrillary tangles	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0100314	HP:0002185	Neurofibrillary tangles	1	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.	38
HP:0100314	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0100314	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0100314	HP:0002185	Neurofibrillary tangles	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0100314	HP:0100315	Lewy bodies	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0100314	HP:0100315	Lewy bodies	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0100314	HP:0100315	Lewy bodies	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0100314	HP:0002185	Neurofibrillary tangles	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0100314	HP:0002185	Neurofibrillary tangles	1	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.	11
HP:0100314	HP:0100318	Lafora bodies	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040280 - Obligate	77
HP:0100314	HP:0100318	Lafora bodies	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0100314	HP:0002185	Neurofibrillary tangles	1	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.	8
HP:0100314	HP:0002185	Neurofibrillary tangles	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0100314	HP:0002185	Neurofibrillary tangles	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0100314	HP:0100315	Lewy bodies	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0100314	HP:0100315	Lewy bodies	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.	50
HP:0100314	HP:0100318	Lafora bodies	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040281 - Very frequent	1
HP:0100314	HP:0100318	Lafora bodies	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0100314	HP:0002185	Neurofibrillary tangles	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0100314	HP:0100315	Lewy bodies	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0100314	HP:0100315	Lewy bodies	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0100314	HP:0100315	Lewy bodies	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0100314	HP:0100315	Lewy bodies	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0100314	HP:0100315	Lewy bodies	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0100314	HP:0100315	Lewy bodies	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional	65
HP:0100314	HP:0100315	Lewy bodies	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0100314	HP:0100315	Lewy bodies	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0100314	HP:0100320	Rosenthal fibers	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0100314	HP:0002185	Neurofibrillary tangles	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0100314	HP:0100315	Lewy bodies	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0100314	HP:0100315	Lewy bodies	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0100314	HP:0002185	Neurofibrillary tangles	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0100314	HP:0002185	Neurofibrillary tangles	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0100314	HP:0100315	Lewy bodies	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0100314	HP:0012083	Ubiquitin-positive cerebral inclusion bodies	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0100314	HP:0100315	Lewy bodies	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0100314	HP:0002185	Neurofibrillary tangles	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0100314	HP:0100315	Lewy bodies	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37