Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000711	HP:0000711	Restlessness	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000711	HP:0000711	Restlessness	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0000711	HP:0000711	Restlessness	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0000711	HP:0000711	Restlessness	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000711	HP:0000711	Restlessness	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0000711	HP:0000711	Restlessness	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0000711	HP:0000711	Restlessness	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0000711	HP:0000711	Restlessness	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0000711	HP:0000711	Restlessness	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0000711	HP:0000711	Restlessness	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0000711	HP:0000711	Restlessness	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0000711	HP:0000711	Restlessness	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0000711	HP:0000711	Restlessness	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0000711	HP:0000711	Restlessness	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0000711	HP:0000711	Restlessness	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000711	HP:0000711	Restlessness	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0000711	HP:0000711	Restlessness	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0000711	HP:0000711	Restlessness	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		56
HP:0000711	HP:0000711	Restlessness	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0000711	HP:0000711	Restlessness	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0000711	HP:0000711	Restlessness	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0000711	HP:0000711	Restlessness	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0000711	HP:0000711	Restlessness	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0000711	HP:0000711	Restlessness	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0000711	HP:0000711	Restlessness	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		42
HP:0000711	HP:0000711	Restlessness	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000711	HP:0000711	Restlessness	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0000711	HP:0000711	Restlessness	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000711	HP:0000711	Restlessness	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000711	HP:0000711	Restlessness	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0000711	HP:0000711	Restlessness	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0000711	HP:0000711	Restlessness	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0000711	HP:0000711	Restlessness	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0000711	HP:0000711	Restlessness	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0000711	HP:0000711	Restlessness	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0000711	HP:0000711	Restlessness	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000711	HP:0000711	Restlessness	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000711	HP:0000711	Restlessness	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000711	HP:0000711	Restlessness	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0000711	HP:0000711	Restlessness	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000711	HP:0000711	Restlessness	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000711	HP:0000711	Restlessness	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0000711	HP:0000711	Restlessness	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0000711	HP:0000711	Restlessness	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0000711	HP:0000711	Restlessness	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0000711	HP:0000711	Restlessness	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0000711	HP:0000711	Restlessness	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills			5
HP:0000711	HP:0000711	Restlessness	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0000711	HP:0000711	Restlessness	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0000711	HP:0000711	Restlessness	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0000711	HP:0000711	Restlessness	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0000711	HP:0000711	Restlessness	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0000711	HP:0000711	Restlessness	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000711	HP:0000711	Restlessness	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0000711	HP:0000711	Restlessness	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000711	HP:0000711	Restlessness	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0000711	HP:0000711	Restlessness	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0000711	HP:0000711	Restlessness	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		126
HP:0000711	HP:0000711	Restlessness	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000711	HP:0000711	Restlessness	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0000711	HP:0000711	Restlessness	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0000711	HP:0000711	Restlessness	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0000711	HP:0000711	Restlessness	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0000711	HP:0000711	Restlessness	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000711	HP:0000711	Restlessness	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000711	HP:0000711	Restlessness	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0000711	HP:0000711	Restlessness	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0000711	HP:0000711	Restlessness	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0000711	HP:0000711	Restlessness	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000711	HP:0000711	Restlessness	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0000711	HP:0000711	Restlessness	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.		81
HP:0000711	HP:0000711	Restlessness	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000711	HP:0000711	Restlessness	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0000711	HP:0000711	Restlessness	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0000711	HP:0000711	Restlessness	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0000711	HP:0000711	Restlessness	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0000711	HP:0000711	Restlessness	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		140
HP:0000711	HP:0000711	Restlessness	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0000711	HP:0000711	Restlessness	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0000711	HP:0000711	Restlessness	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000711	HP:0000711	Restlessness	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0000711	HP:0000711	Restlessness	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000711	HP:0000711	Restlessness	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0000711	HP:0000711	Restlessness	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000711	HP:0000711	Restlessness	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000711	HP:0000711	Restlessness	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0000711	HP:0000711	Restlessness	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0000711	HP:0000711	Restlessness	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000711	HP:0000711	Restlessness	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0000711	HP:0000711	Restlessness	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0000711	HP:0000711	Restlessness	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000711	HP:0000711	Restlessness	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0000711	HP:0000711	Restlessness	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0000711	HP:0000711	Restlessness	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0000711	HP:0000711	Restlessness	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0000711	HP:0000711	Restlessness	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0000711	HP:0000711	Restlessness	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000711	HP:0000711	Restlessness	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0000711	HP:0000711	Restlessness	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0000711	HP:0000711	Restlessness	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0000711	HP:0000711	Restlessness	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0000711	HP:0000711	Restlessness	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0000711	HP:0000711	Restlessness	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0000711	HP:0000711	Restlessness	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0000711	HP:0000711	Restlessness	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000711	HP:0000711	Restlessness	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0000711	HP:0000711	Restlessness	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0000711	HP:0000711	Restlessness	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0000711	HP:0000711	Restlessness	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		241
HP:0000711	HP:0000711	Restlessness	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0000711	HP:0000711	Restlessness	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0000711	HP:0000711	Restlessness	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000711	HP:0000711	Restlessness	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000711	HP:0000711	Restlessness	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000711	HP:0000711	Restlessness	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000711	HP:0000711	Restlessness	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000711	HP:0000711	Restlessness	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0000711	HP:0000711	Restlessness	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0000711	HP:0000711	Restlessness	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0000711	HP:0000711	Restlessness	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0000711	HP:0000711	Restlessness	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0000711	HP:0000711	Restlessness	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0000711	HP:0000711	Restlessness	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0000711	HP:0000711	Restlessness	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000711	HP:0000711	Restlessness	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0000711	HP:0000711	Restlessness	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000711	HP:0000711	Restlessness	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0000711	HP:0000711	Restlessness	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0000711	HP:0000711	Restlessness	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000711	HP:0000711	Restlessness	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000711	HP:0000711	Restlessness	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0000711	HP:0000711	Restlessness	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0000711	HP:0000711	Restlessness	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0000711	HP:0000711	Restlessness	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0000711	HP:0000711	Restlessness	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000711	HP:0000711	Restlessness	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0000711	HP:0000711	Restlessness	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0000711	HP:0000711	Restlessness	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0000711	HP:0000711	Restlessness	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0000711	HP:0000711	Restlessness	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0000711	HP:0000711	Restlessness	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0000711	HP:0000711	Restlessness	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		31
HP:0000711	HP:0000711	Restlessness	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	HP:0003577 - Congenital onset	102
HP:0000711	HP:0000711	Restlessness	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0000711	HP:0000711	Restlessness	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor			97
HP:0000711	HP:0000711	Restlessness	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0000711	HP:0000711	Restlessness	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0000711	HP:0000711	Restlessness	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0000711	HP:0000711	Restlessness	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0000711	HP:0000711	Restlessness	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0000711	HP:0000711	Restlessness	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0000711	HP:0000711	Restlessness	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0000711	HP:0000711	Restlessness	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		63
HP:0000711	HP:0000711	Restlessness	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0000711	HP:0000711	Restlessness	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0000711	HP:0000711	Restlessness	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000711	HP:0000711	Restlessness	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	HP:0040283 - Occasional		17
HP:0000711	HP:0031943	Akathisia	1	CL E G H
HP:0000711	HP:0000713	Agitation	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0000711	HP:0000713	Agitation	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0000711	HP:0000713	Agitation	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0000711	HP:0000713	Agitation	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	.		22
HP:0000711	HP:0000713	Agitation	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0000711	HP:0000713	Agitation	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0000711	HP:0000713	Agitation	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.		59
HP:0000711	HP:0000713	Agitation	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0000711	HP:0000713	Agitation	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		32
HP:0000711	HP:0000713	Agitation	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0000711	HP:0000713	Agitation	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0000711	HP:0000713	Agitation	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		11
HP:0000711	HP:0000713	Agitation	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000711	HP:0000713	Agitation	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		56
HP:0000711	HP:0000713	Agitation	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0000711	HP:0000713	Agitation	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0000711	HP:0000713	Agitation	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		11
HP:0000711	HP:0000713	Agitation	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		42
HP:0000711	HP:0000713	Agitation	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000711	HP:0000713	Agitation	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0000711	HP:0000713	Agitation	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0000711	HP:0000713	Agitation	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		86
HP:0000711	HP:0000713	Agitation	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0000711	HP:0000713	Agitation	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0000711	HP:0000713	Agitation	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional		33
HP:0000711	HP:0000713	Agitation	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0000711	HP:0000713	Agitation	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000711	HP:0000713	Agitation	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0000711	HP:0000713	Agitation	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent		8
HP:0000711	HP:0000713	Agitation	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0000711	HP:0000713	Agitation	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		4
HP:0000711	HP:0000713	Agitation	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		15
HP:0000711	HP:0000713	Agitation	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		111
HP:0000711	HP:0000713	Agitation	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000711	HP:0000713	Agitation	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0000711	HP:0000713	Agitation	1	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0000711	HP:0000713	Agitation	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0000711	HP:0000713	Agitation	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		45
HP:0000711	HP:0000713	Agitation	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000711	HP:0000713	Agitation	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0000711	HP:0000713	Agitation	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000711	HP:0000713	Agitation	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0000711	HP:0000713	Agitation	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000711	HP:0000713	Agitation	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0000711	HP:0000713	Agitation	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0000711	HP:0000713	Agitation	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		31
HP:0000711	HP:0000713	Agitation	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000711	HP:0000713	Agitation	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		39
HP:0000711	HP:0000713	Agitation	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0000711	HP:0000713	Agitation	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0000711	HP:0000713	Agitation	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000711	HP:0000713	Agitation	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0000711	HP:0000713	Agitation	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional		46
HP:0000711	HP:0000713	Agitation	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0000711	HP:0000713	Agitation	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0000711	HP:0000713	Agitation	1	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0000711	HP:0000713	Agitation	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		80
HP:0000711	HP:0000713	Agitation	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0000711	HP:0000713	Agitation	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional		950
HP:0000711	HP:0000713	Agitation	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000711	HP:0000713	Agitation	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0000711	HP:0000713	Agitation	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0000711	HP:0000713	Agitation	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		24
HP:0000711	HP:0000713	Agitation	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		101
HP:0000711	HP:0000713	Agitation	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0000711	HP:0000713	Agitation	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		62
HP:0000711	HP:0000713	Agitation	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000711	HP:0000713	Agitation	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		23
HP:0000711	HP:0000713	Agitation	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0000711	HP:0000713	Agitation	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000711	HP:0000713	Agitation	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		55
HP:0000711	HP:0000713	Agitation	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000711	HP:0000713	Agitation	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		4
HP:0000711	HP:0000713	Agitation	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		2
HP:0000711	HP:0000713	Agitation	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0000711	HP:0000713	Agitation	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0000711	HP:0000713	Agitation	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0000711	HP:0000713	Agitation	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		138
HP:0000711	HP:0000713	Agitation	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		25
HP:0000711	HP:0000713	Agitation	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0000711	HP:0000713	Agitation	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0000711	HP:0000713	Agitation	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0000711	HP:0000713	Agitation	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000711	HP:0000713	Agitation	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0000711	HP:0000713	Agitation	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0000711	HP:0000713	Agitation	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0000711	HP:0000713	Agitation	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0000711	HP:0000713	Agitation	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		53
HP:0000711	HP:0000713	Agitation	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0000711	HP:0000713	Agitation	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0000711	HP:0000713	Agitation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000711	HP:0000713	Agitation	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		62
HP:0000711	HP:0000713	Agitation	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.		40
HP:0000711	HP:0000713	Agitation	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		9
HP:0000711	HP:0000713	Agitation	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional
HP:0000711	HP:0000713	Agitation	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		65
HP:0000711	HP:0000713	Agitation	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		20
HP:0000711	HP:0000713	Agitation	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0000711	HP:0000713	Agitation	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0000711	HP:0000713	Agitation	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		31
HP:0000711	HP:0000713	Agitation	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0000711	HP:0000713	Agitation	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040282 - Frequent		97
HP:0000711	HP:0000713	Agitation	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040282 - Frequent		97
HP:0000711	HP:0000713	Agitation	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		20
HP:0000711	HP:0000713	Agitation	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		21
HP:0000711	HP:0000713	Agitation	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15
HP:0000711	HP:0000713	Agitation	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		1
HP:0000711	HP:0000713	Agitation	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		116
HP:0000711	HP:0000713	Agitation	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040283 - Occasional		63
HP:0000711	HP:0000713	Agitation	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0000711	HP:0000713	Agitation	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0000711	HP:0000713	Agitation	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20