Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Cognitive impairment (HP:0100543)

..Starting node
..Mental deterioration (HP:0001268)

Term ID:

1268

Name:

Mental deterioration

Synonym:

Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline

Definition:

Loss of previously present mental abilities, generally in adults.

Comments:

Reference:

HP:0001268

Genes and Diseases:

Child Nodes:

........

Dementia (HP:0000726)

................... HP:0000727 Frontal lobe dementia
................... HP:0002145 Frontotemporal dementia
................... HP:0002439 Frontolimbic dementia
................... HP:0007123 Subcortical dementia

........

Motor deterioration (HP:0002333)

........

Progressive neurologic deterioration (HP:0002344)

................... HP:0007064 Progressive language deterioration
................... HP:0007272 Progressive psychomotor deterioration
................... HP:0007307 Rapid neurologic deterioration

........

Psychomotor deterioration (HP:0002361)

........

Social and occupational deterioration (HP:0007086)

Sister Nodes:

Bradyphrenia (HP:0031843)

Memory impairment (HP:0002354)

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:0001268	HP:0001268	Mental deterioration	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0001268	HP:0001268	Mental deterioration	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0001268	HP:0001268	Mental deterioration	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional		15
HP:0001268	HP:0001268	Mental deterioration	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0001268	HP:0001268	Mental deterioration	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0001268	HP:0001268	Mental deterioration	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent		135
HP:0001268	HP:0001268	Mental deterioration	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent		72
HP:0001268	HP:0001268	Mental deterioration	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001268	HP:0001268	Mental deterioration	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0001268	HP:0001268	Mental deterioration	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.		22
HP:0001268	HP:0001268	Mental deterioration	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0001268	HP:0001268	Mental deterioration	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0001268	HP:0001268	Mental deterioration	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0001268	HP:0001268	Mental deterioration	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0001268	HP:0001268	Mental deterioration	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0001268	HP:0001268	Mental deterioration	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0001268	HP:0001268	Mental deterioration	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2			39
HP:0001268	HP:0001268	Mental deterioration	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0001268	HP:0001268	Mental deterioration	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0001268	HP:0001268	Mental deterioration	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA
HP:0001268	HP:0001268	Mental deterioration	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent		74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type			74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis			74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease			74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related			74
HP:0001268	HP:0001268	Mental deterioration	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0001268	HP:0001268	Mental deterioration	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	HP:0040283 - Occasional		61
HP:0001268	HP:0001268	Mental deterioration	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0001268	HP:0001268	Mental deterioration	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0001268	HP:0001268	Mental deterioration	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0001268	HP:0001268	Mental deterioration	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001268	HP:0001268	Mental deterioration	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0001268	HP:0001268	Mental deterioration	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0001268	HP:0001268	Mental deterioration	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0001268	HP:0001268	Mental deterioration	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:0001268	HP:0001268	Mental deterioration	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0001268	HP:0001268	Mental deterioration	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0001268	HP:0001268	Mental deterioration	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0001268	HP:0001268	Mental deterioration	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0001268	HP:0001268	Mental deterioration	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001268	HP:0001268	Mental deterioration	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0001268	HP:0001268	Mental deterioration	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001268	HP:0001268	Mental deterioration	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0001268	HP:0001268	Mental deterioration	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0001268	HP:0001268	Mental deterioration	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001268	HP:0001268	Mental deterioration	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0001268	HP:0001268	Mental deterioration	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001268	HP:0001268	Mental deterioration	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001268	HP:0001268	Mental deterioration	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001268	HP:0001268	Mental deterioration	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001268	HP:0001268	Mental deterioration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001268	HP:0001268	Mental deterioration	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001268	HP:0001268	Mental deterioration	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0001268	HP:0001268	Mental deterioration	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0001268	HP:0001268	Mental deterioration	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0001268	HP:0001268	Mental deterioration	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0001268	HP:0001268	Mental deterioration	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0001268	HP:0001268	Mental deterioration	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0001268	HP:0001268	Mental deterioration	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0001268	HP:0001268	Mental deterioration	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0001268	HP:0001268	Mental deterioration	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001268	HP:0001268	Mental deterioration	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001268	HP:0001268	Mental deterioration	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0001268	HP:0001268	Mental deterioration	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0001268	HP:0001268	Mental deterioration	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent		114
HP:0001268	HP:0001268	Mental deterioration	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0001268	HP:0001268	Mental deterioration	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0001268	HP:0001268	Mental deterioration	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0001268	HP:0001268	Mental deterioration	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0001268	HP:0001268	Mental deterioration	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0001268	HP:0001268	Mental deterioration	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0001268	HP:0001268	Mental deterioration	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001268	HP:0001268	Mental deterioration	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0001268	HP:0001268	Mental deterioration	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0001268	HP:0001268	Mental deterioration	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001268	HP:0001268	Mental deterioration	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0001268	HP:0001268	Mental deterioration	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0001268	HP:0001268	Mental deterioration	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001268	HP:0001268	Mental deterioration	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001268	HP:0001268	Mental deterioration	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0001268	HP:0001268	Mental deterioration	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0001268	HP:0001268	Mental deterioration	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0001268	HP:0001268	Mental deterioration	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0001268	HP:0001268	Mental deterioration	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0001268	HP:0001268	Mental deterioration	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA			1
HP:0001268	HP:0001268	Mental deterioration	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0001268	HP:0001268	Mental deterioration	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0001268	HP:0001268	Mental deterioration	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0001268	HP:0001268	Mental deterioration	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0001268	HP:0001268	Mental deterioration	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001268	HP:0001268	Mental deterioration	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0001268	HP:0001268	Mental deterioration	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001268	HP:0001268	Mental deterioration	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0001268	HP:0001268	Mental deterioration	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0001268	HP:0001268	Mental deterioration	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive			143
HP:0001268	HP:0001268	Mental deterioration	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0001268	HP:0001268	Mental deterioration	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0001268	HP:0001268	Mental deterioration	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0001268	HP:0001268	Mental deterioration	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0001268	HP:0001268	Mental deterioration	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001268	HP:0001268	Mental deterioration	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0001268	HP:0001268	Mental deterioration	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0001268	HP:0001268	Mental deterioration	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0001268	HP:0001268	Mental deterioration	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0001268	HP:0001268	Mental deterioration	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA			6
HP:0001268	HP:0001268	Mental deterioration	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001268	HP:0001268	Mental deterioration	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0001268	HP:0001268	Mental deterioration	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001268	HP:0001268	Mental deterioration	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001268	HP:0001268	Mental deterioration	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0001268	HP:0001268	Mental deterioration	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0001268	HP:0001268	Mental deterioration	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI			3
HP:0001268	HP:0001268	Mental deterioration	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0001268	HP:0001268	Mental deterioration	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1			51
HP:0001268	HP:0001268	Mental deterioration	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0001268	HP:0001268	Mental deterioration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0001268	HP:0001268	Mental deterioration	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0001268	HP:0001268	Mental deterioration	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0001268	HP:0001268	Mental deterioration	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1			273
HP:0001268	HP:0001268	Mental deterioration	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0001268	HP:0001268	Mental deterioration	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001268	HP:0001268	Mental deterioration	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0001268	HP:0001268	Mental deterioration	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001268	HP:0001268	Mental deterioration	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001268	HP:0001268	Mental deterioration	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA
HP:0001268	HP:0001268	Mental deterioration	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0001268	HP:0001268	Mental deterioration	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0001268	HP:0001268	Mental deterioration	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001268	HP:0001268	Mental deterioration	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0001268	HP:0001268	Mental deterioration	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0001268	HP:0001268	Mental deterioration	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0001268	HP:0001268	Mental deterioration	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA
HP:0001268	HP:0001268	Mental deterioration	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0001268	HP:0001268	Mental deterioration	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001268	HP:0001268	Mental deterioration	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant			155
HP:0001268	HP:0001268	Mental deterioration	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0001268	HP:0001268	Mental deterioration	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0001268	HP:0001268	Mental deterioration	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0001268	HP:0001268	Mental deterioration	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0001268	HP:0001268	Mental deterioration	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0001268	HP:0001268	Mental deterioration	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0001268	HP:0001268	Mental deterioration	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0001268	HP:0001268	Mental deterioration	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA			21
HP:0001268	HP:0001268	Mental deterioration	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0001268	HP:0001268	Mental deterioration	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001268	HP:0001268	Mental deterioration	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001268	HP:0001268	Mental deterioration	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0001268	HP:0001268	Mental deterioration	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0001268	HP:0001268	Mental deterioration	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0001268	HP:0001268	Mental deterioration	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0001268	HP:0001268	Mental deterioration	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001268	HP:0001268	Mental deterioration	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001268	HP:0001268	Mental deterioration	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0001268	HP:0001268	Mental deterioration	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0001268	HP:0001268	Mental deterioration	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001268	HP:0001268	Mental deterioration	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0001268	HP:0001268	Mental deterioration	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent		76
HP:0001268	HP:0001268	Mental deterioration	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0001268	HP:0001268	Mental deterioration	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0001268	HP:0001268	Mental deterioration	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0001268	HP:0001268	Mental deterioration	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001268	HP:0001268	Mental deterioration	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0001268	HP:0001268	Mental deterioration	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0001268	HP:0001268	Mental deterioration	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0001268	HP:0001268	Mental deterioration	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0001268	HP:0001268	Mental deterioration	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0001268	HP:0001268	Mental deterioration	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0001268	HP:0001268	Mental deterioration	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001268	HP:0001268	Mental deterioration	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0001268	HP:0001268	Mental deterioration	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0001268	HP:0001268	Mental deterioration	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0001268	HP:0001268	Mental deterioration	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0001268	HP:0001268	Mental deterioration	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0001268	HP:0001268	Mental deterioration	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0001268	HP:0001268	Mental deterioration	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0001268	HP:0001268	Mental deterioration	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0001268	HP:0001268	Mental deterioration	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0001268	HP:0001268	Mental deterioration	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0001268	HP:0001268	Mental deterioration	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0001268	HP:0001268	Mental deterioration	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0001268	HP:0001268	Mental deterioration	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0001268	HP:0001268	Mental deterioration	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0001268	HP:0001268	Mental deterioration	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0001268	HP:0001268	Mental deterioration	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0001268	HP:0001268	Mental deterioration	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0001268	HP:0001268	Mental deterioration	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001268	HP:0001268	Mental deterioration	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0001268	HP:0001268	Mental deterioration	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0001268	HP:0001268	Mental deterioration	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0001268	HP:0001268	Mental deterioration	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0001268	HP:0001268	Mental deterioration	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0001268	HP:0001268	Mental deterioration	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001268	HP:0001268	Mental deterioration	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0001268	HP:0001268	Mental deterioration	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	HP:0040283 - Occasional		126
HP:0001268	HP:0001268	Mental deterioration	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0001268	HP:0001268	Mental deterioration	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0001268	HP:0001268	Mental deterioration	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0001268	HP:0001268	Mental deterioration	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0001268	HP:0001268	Mental deterioration	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0001268	HP:0001268	Mental deterioration	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0001268	HP:0001268	Mental deterioration	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001268	HP:0001268	Mental deterioration	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease			38
HP:0001268	HP:0001268	Mental deterioration	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0001268	HP:0001268	Mental deterioration	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001268	HP:0001268	Mental deterioration	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0001268	HP:0001268	Mental deterioration	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent		81
HP:0001268	HP:0001268	Mental deterioration	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0001268	HP:0001268	Mental deterioration	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001268	HP:0001268	Mental deterioration	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0001268	HP:0001268	Mental deterioration	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001268	HP:0001268	Mental deterioration	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0001268	HP:0001268	Mental deterioration	0	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA			4
HP:0001268	HP:0001268	Mental deterioration	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0001268	HP:0001268	Mental deterioration	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2			34
HP:0001268	HP:0001268	Mental deterioration	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0001268	HP:0001268	Mental deterioration	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0001268	HP:0001268	Mental deterioration	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		12
HP:0001268	HP:0001268	Mental deterioration	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0001268	HP:0001268	Mental deterioration	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0001268	HP:0001268	Mental deterioration	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040284 - Very rare		86
HP:0001268	HP:0001268	Mental deterioration	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0001268	HP:0001268	Mental deterioration	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001268	HP:0001268	Mental deterioration	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0001268	HP:0001268	Mental deterioration	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1			3
HP:0001268	HP:0001268	Mental deterioration	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish			3
HP:0001268	HP:0001268	Mental deterioration	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001268	HP:0001268	Mental deterioration	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0001268	HP:0001268	Mental deterioration	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0001268	HP:0001268	Mental deterioration	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001268	HP:0001268	Mental deterioration	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001268	HP:0001268	Mental deterioration	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0001268	HP:0001268	Mental deterioration	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	HP:0040283 - Occasional		6
HP:0001268	HP:0001268	Mental deterioration	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0001268	HP:0001268	Mental deterioration	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0001268	HP:0001268	Mental deterioration	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040283 - Occasional		134
HP:0001268	HP:0001268	Mental deterioration	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0001268	HP:0001268	Mental deterioration	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001268	HP:0001268	Mental deterioration	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0001268	HP:0001268	Mental deterioration	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0001268	HP:0001268	Mental deterioration	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001268	HP:0001268	Mental deterioration	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0001268	HP:0001268	Mental deterioration	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant			221
HP:0001268	HP:0001268	Mental deterioration	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0001268	HP:0001268	Mental deterioration	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0001268	HP:0001268	Mental deterioration	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040281 - Very frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0001268	HP:0001268	Mental deterioration	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0001268	HP:0001268	Mental deterioration	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001268	HP:0001268	Mental deterioration	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001268	HP:0001268	Mental deterioration	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0001268	HP:0001268	Mental deterioration	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0001268	HP:0001268	Mental deterioration	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0001268	HP:0001268	Mental deterioration	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional		203
HP:0001268	HP:0001268	Mental deterioration	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0001268	HP:0001268	Mental deterioration	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001268	HP:0001268	Mental deterioration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001268	HP:0001268	Mental deterioration	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0001268	HP:0001268	Mental deterioration	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease			11
HP:0001268	HP:0001268	Mental deterioration	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent		183
HP:0001268	HP:0001268	Mental deterioration	0	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA			183
HP:0001268	HP:0001268	Mental deterioration	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0001268	HP:0001268	Mental deterioration	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0001268	HP:0001268	Mental deterioration	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0001268	HP:0001268	Mental deterioration	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0001268	HP:0001268	Mental deterioration	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001268	HP:0001268	Mental deterioration	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001268	HP:0001268	Mental deterioration	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001268	HP:0001268	Mental deterioration	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001268	HP:0001268	Mental deterioration	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0001268	HP:0001268	Mental deterioration	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0001268	HP:0001268	Mental deterioration	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease			8
HP:0001268	HP:0001268	Mental deterioration	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001268	HP:0001268	Mental deterioration	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0001268	HP:0001268	Mental deterioration	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0001268	HP:0001268	Mental deterioration	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0001268	HP:0001268	Mental deterioration	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0001268	HP:0001268	Mental deterioration	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001268	HP:0001268	Mental deterioration	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001268	HP:0001268	Mental deterioration	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset			27
HP:0001268	HP:0001268	Mental deterioration	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.		102
HP:0001268	HP:0001268	Mental deterioration	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0001268	HP:0001268	Mental deterioration	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0001268	HP:0001268	Mental deterioration	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent		641
HP:0001268	HP:0001268	Mental deterioration	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration			55
HP:0001268	HP:0001268	Mental deterioration	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0001268	HP:0001268	Mental deterioration	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0001268	HP:0001268	Mental deterioration	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0001268	HP:0001268	Mental deterioration	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2			5
HP:0001268	HP:0001268	Mental deterioration	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0001268	HP:0001268	Mental deterioration	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0001268	HP:0001268	Mental deterioration	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0001268	HP:0001268	Mental deterioration	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0001268	HP:0001268	Mental deterioration	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0001268	HP:0001268	Mental deterioration	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0001268	HP:0001268	Mental deterioration	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset			55
HP:0001268	HP:0001268	Mental deterioration	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0001268	HP:0001268	Mental deterioration	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0001268	HP:0001268	Mental deterioration	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent		133
HP:0001268	HP:0001268	Mental deterioration	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0001268	HP:0001268	Mental deterioration	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0001268	HP:0001268	Mental deterioration	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease			50
HP:0001268	HP:0001268	Mental deterioration	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0001268	HP:0001268	Mental deterioration	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001268	HP:0001268	Mental deterioration	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0001268	HP:0001268	Mental deterioration	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0001268	HP:0001268	Mental deterioration	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0001268	HP:0001268	Mental deterioration	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0001268	HP:0001268	Mental deterioration	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0001268	HP:0001268	Mental deterioration	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001268	HP:0001268	Mental deterioration	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001268	HP:0001268	Mental deterioration	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001268	HP:0001268	Mental deterioration	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0001268	HP:0001268	Mental deterioration	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12			5
HP:0001268	HP:0001268	Mental deterioration	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001268	HP:0001268	Mental deterioration	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0001268	HP:0001268	Mental deterioration	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional		1
HP:0001268	HP:0001268	Mental deterioration	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0001268	HP:0001268	Mental deterioration	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001268	HP:0001268	Mental deterioration	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1			133
HP:0001268	HP:0001268	Mental deterioration	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0001268	HP:0001268	Mental deterioration	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0001268	HP:0001268	Mental deterioration	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0001268	HP:0001268	Mental deterioration	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO			69
HP:0001268	HP:0001268	Mental deterioration	0	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features			69
HP:0001268	HP:0001268	Mental deterioration	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0001268	HP:0001268	Mental deterioration	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0001268	HP:0001268	Mental deterioration	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0001268	HP:0001268	Mental deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0001268	HP:0001268	Mental deterioration	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0001268	HP:0001268	Mental deterioration	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0001268	HP:0001268	Mental deterioration	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001268	HP:0001268	Mental deterioration	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0001268	HP:0001268	Mental deterioration	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0001268	HP:0001268	Mental deterioration	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0001268	HP:0001268	Mental deterioration	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0001268	HP:0001268	Mental deterioration	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome			34
HP:0001268	HP:0001268	Mental deterioration	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0001268	HP:0001268	Mental deterioration	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0001268	HP:0001268	Mental deterioration	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001268	HP:0001268	Mental deterioration	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0001268	HP:0001268	Mental deterioration	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0001268	HP:0001268	Mental deterioration	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001268	HP:0001268	Mental deterioration	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0001268	HP:0001268	Mental deterioration	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome			57
HP:0001268	HP:0001268	Mental deterioration	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001268	HP:0001268	Mental deterioration	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0001268	HP:0001268	Mental deterioration	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001268	HP:0001268	Mental deterioration	0	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA			2
HP:0001268	HP:0001268	Mental deterioration	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1			77
HP:0001268	HP:0001268	Mental deterioration	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0001268	HP:0001268	Mental deterioration	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0001268	HP:0001268	Mental deterioration	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0001268	HP:0001268	Mental deterioration	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0001268	HP:0001268	Mental deterioration	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001268	HP:0001268	Mental deterioration	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001268	HP:0001268	Mental deterioration	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001268	HP:0001268	Mental deterioration	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001268	HP:0001268	Mental deterioration	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001268	HP:0001268	Mental deterioration	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0001268	HP:0001268	Mental deterioration	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0001268	HP:0001268	Mental deterioration	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0001268	HP:0001268	Mental deterioration	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0001268	HP:0001268	Mental deterioration	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0001268	HP:0001268	Mental deterioration	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001268	HP:0001268	Mental deterioration	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001268	HP:0001268	Mental deterioration	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0001268	HP:0001268	Mental deterioration	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		1
HP:0001268	HP:0001268	Mental deterioration	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0001268	HP:0001268	Mental deterioration	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0001268	HP:0001268	Mental deterioration	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body			65
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4			65
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0001268	HP:0001268	Mental deterioration	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0001268	HP:0001268	Mental deterioration	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset			35
HP:0001268	HP:0001268	Mental deterioration	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body			2
HP:0001268	HP:0001268	Mental deterioration	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0001268	HP:0001268	Mental deterioration	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.		6
HP:0001268	HP:0001268	Mental deterioration	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0001268	HP:0001268	Mental deterioration	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0001268	HP:0001268	Mental deterioration	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent		287
HP:0001268	HP:0001268	Mental deterioration	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0001268	HP:0001268	Mental deterioration	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0001268	HP:0001268	Mental deterioration	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0001268	HP:0001268	Mental deterioration	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0001268	HP:0001268	Mental deterioration	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0001268	HP:0001268	Mental deterioration	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0001268	HP:0001268	Mental deterioration	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0001268	HP:0001268	Mental deterioration	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0001268	HP:0001268	Mental deterioration	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0001268	HP:0001268	Mental deterioration	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0001268	HP:0001268	Mental deterioration	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0001268	HP:0001268	Mental deterioration	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001268	HP:0001268	Mental deterioration	0	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA			3
HP:0001268	HP:0001268	Mental deterioration	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001268	HP:0001268	Mental deterioration	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0001268	HP:0001268	Mental deterioration	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0001268	HP:0001268	Mental deterioration	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	HP:0040283 - Occasional		9
HP:0001268	HP:0001268	Mental deterioration	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0001268	HP:0001268	Mental deterioration	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0001268	HP:0001268	Mental deterioration	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0001268	HP:0001268	Mental deterioration	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0001268	HP:0001268	Mental deterioration	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.		20
HP:0001268	HP:0001268	Mental deterioration	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0001268	HP:0001268	Mental deterioration	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0001268	HP:0001268	Mental deterioration	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset			7
HP:0001268	HP:0001268	Mental deterioration	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0001268	HP:0001268	Mental deterioration	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent		7
HP:0001268	HP:0001268	Mental deterioration	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001268	HP:0001268	Mental deterioration	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0001268	HP:0001268	Mental deterioration	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0001268	HP:0001268	Mental deterioration	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001268	HP:0001268	Mental deterioration	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0001268	HP:0001268	Mental deterioration	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001268	HP:0001268	Mental deterioration	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	HP:0040284 - Very rare		3
HP:0001268	HP:0001268	Mental deterioration	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0001268	HP:0001268	Mental deterioration	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0001268	HP:0001268	Mental deterioration	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0001268	HP:0001268	Mental deterioration	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0001268	HP:0001268	Mental deterioration	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0001268	HP:0001268	Mental deterioration	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001268	HP:0001268	Mental deterioration	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0001268	HP:0001268	Mental deterioration	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0001268	HP:0001268	Mental deterioration	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001268	HP:0001268	Mental deterioration	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0001268	HP:0001268	Mental deterioration	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001268	HP:0001268	Mental deterioration	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0001268	HP:0001268	Mental deterioration	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0001268	HP:0001268	Mental deterioration	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001268	HP:0001268	Mental deterioration	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001268	HP:0001268	Mental deterioration	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0001268	HP:0001268	Mental deterioration	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0001268	HP:0001268	Mental deterioration	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0001268	HP:0001268	Mental deterioration	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0001268	HP:0001268	Mental deterioration	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type			66
HP:0001268	HP:0001268	Mental deterioration	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0001268	HP:0001268	Mental deterioration	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001268	HP:0001268	Mental deterioration	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001268	HP:0001268	Mental deterioration	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0001268	HP:0001268	Mental deterioration	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0001268	HP:0001268	Mental deterioration	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001268	HP:0001268	Mental deterioration	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0001268	HP:0001268	Mental deterioration	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0001268	HP:0001268	Mental deterioration	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0001268	HP:0001268	Mental deterioration	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0001268	HP:0001268	Mental deterioration	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001268	HP:0001268	Mental deterioration	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001268	HP:0001268	Mental deterioration	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0001268	HP:0001268	Mental deterioration	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0001268	HP:0001268	Mental deterioration	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0001268	HP:0001268	Mental deterioration	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset			8
HP:0001268	HP:0001268	Mental deterioration	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0001268	HP:0001268	Mental deterioration	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0001268	HP:0001268	Mental deterioration	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0001268	HP:0001268	Mental deterioration	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0001268	HP:0001268	Mental deterioration	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001268	HP:0001268	Mental deterioration	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0001268	HP:0001268	Mental deterioration	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0001268	HP:0001268	Mental deterioration	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0001268	HP:0001268	Mental deterioration	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6			4
HP:0001268	HP:0001268	Mental deterioration	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001268	HP:0001268	Mental deterioration	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0001268	HP:0000726	Dementia	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0001268	HP:0000726	Dementia	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0001268	HP:0000726	Dementia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0001268	HP:0000726	Dementia	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0001268	HP:0000726	Dementia	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0001268	HP:0000726	Dementia	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.		4
HP:0001268	HP:0000726	Dementia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0001268	HP:0000726	Dementia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0001268	HP:0000726	Dementia	1	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.		39
HP:0001268	HP:0000726	Dementia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0001268	HP:0000726	Dementia	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4			39
HP:0001268	HP:0007086	Social and occupational deterioration	1	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0001268	HP:0007086	Social and occupational deterioration	1	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.		74
HP:0001268	HP:0000726	Dementia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0001268	HP:0000726	Dementia	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0001268	HP:0000726	Dementia	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0001268	HP:0000726	Dementia	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001268	HP:0000726	Dementia	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0001268	HP:0000726	Dementia	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:0001268	HP:0000726	Dementia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare		100
HP:0001268	HP:0000726	Dementia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0001268	HP:0000726	Dementia	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0001268	HP:0000726	Dementia	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0001268	HP:0000726	Dementia	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001268	HP:0000726	Dementia	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0001268	HP:0000726	Dementia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001268	HP:0002361	Psychomotor deterioration	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0001268	HP:0002361	Psychomotor deterioration	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001268	HP:0000726	Dementia	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0001268	HP:0000726	Dementia	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001268	HP:0002361	Psychomotor deterioration	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0001268	HP:0000726	Dementia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0001268	HP:0000726	Dementia	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001268	HP:0000726	Dementia	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0001268	HP:0000726	Dementia	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.		11
HP:0001268	HP:0000726	Dementia	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0001268	HP:0000726	Dementia	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0001268	HP:0000726	Dementia	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0001268	HP:0000726	Dementia	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0001268	HP:0000726	Dementia	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001268	HP:0000726	Dementia	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0001268	HP:0000726	Dementia	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0001268	HP:0000726	Dementia	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0001268	HP:0000726	Dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001268	HP:0000726	Dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0001268	HP:0000726	Dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001268	HP:0000726	Dementia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0001268	HP:0000726	Dementia	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001268	HP:0000726	Dementia	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001268	HP:0000726	Dementia	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0001268	HP:0000726	Dementia	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.		6
HP:0001268	HP:0000726	Dementia	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0001268	HP:0000726	Dementia	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0001268	HP:0007086	Social and occupational deterioration	1	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.		1
HP:0001268	HP:0000726	Dementia	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001268	HP:0000726	Dementia	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0001268	HP:0000726	Dementia	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001268	HP:0000726	Dementia	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0001268	HP:0000726	Dementia	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0001268	HP:0002361	Psychomotor deterioration	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0001268	HP:0000726	Dementia	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0001268	HP:0000726	Dementia	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001268	HP:0002333	Motor deterioration	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0001268	HP:0000726	Dementia	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.		143
HP:0001268	HP:0002333	Motor deterioration	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.		143
HP:0001268	HP:0002333	Motor deterioration	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0001268	HP:0000726	Dementia	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0001268	HP:0002361	Psychomotor deterioration	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0001268	HP:0000726	Dementia	1	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL			193
HP:0001268	HP:0007086	Social and occupational deterioration	1	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.		6
HP:0001268	HP:0000726	Dementia	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0001268	HP:0007086	Social and occupational deterioration	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001268	HP:0007086	Social and occupational deterioration	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001268	HP:0000726	Dementia	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0001268	HP:0000726	Dementia	1	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.		3
HP:0001268	HP:0000726	Dementia	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0001268	HP:0000726	Dementia	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		51
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0001268	HP:0000726	Dementia	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0001268	HP:0000726	Dementia	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.		273
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0001268	HP:0000726	Dementia	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0001268	HP:0000726	Dementia	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001268	HP:0000726	Dementia	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0007086	Social and occupational deterioration	1	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0001268	HP:0000726	Dementia	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001268	HP:0000726	Dementia	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040283 - Occasional		86
HP:0001268	HP:0000726	Dementia	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0001268	HP:0007086	Social and occupational deterioration	1	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0001268	HP:0000726	Dementia	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0001268	HP:0000726	Dementia	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0001268	HP:0000726	Dementia	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.		155
HP:0001268	HP:0000726	Dementia	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0001268	HP:0000726	Dementia	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0001268	HP:0000726	Dementia	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0001268	HP:0000726	Dementia	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	HP:0003581 - Adult onset	145
HP:0001268	HP:0007086	Social and occupational deterioration	1	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.		21
HP:0001268	HP:0000726	Dementia	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		2
HP:0001268	HP:0007086	Social and occupational deterioration	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001268	HP:0000726	Dementia	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0001268	HP:0000726	Dementia	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0001268	HP:0000726	Dementia	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0001268	HP:0000726	Dementia	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0001268	HP:0000726	Dementia	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0001268	HP:0000726	Dementia	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		36
HP:0001268	HP:0000726	Dementia	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0001268	HP:0000726	Dementia	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0001268	HP:0002333	Motor deterioration	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0001268	HP:0000726	Dementia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0001268	HP:0000726	Dementia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0001268	HP:0000726	Dementia	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0001268	HP:0002361	Psychomotor deterioration	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		160
HP:0001268	HP:0002333	Motor deterioration	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0001268	HP:0002361	Psychomotor deterioration	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0001268	HP:0000726	Dementia	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0001268	HP:0000726	Dementia	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0001268	HP:0000726	Dementia	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001268	HP:0000726	Dementia	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare
HP:0001268	HP:0000726	Dementia	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0001268	HP:0000726	Dementia	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0001268	HP:0000726	Dementia	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional		30
HP:0001268	HP:0000726	Dementia	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040283 - Occasional		86
HP:0001268	HP:0000726	Dementia	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0001268	HP:0000726	Dementia	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001268	HP:0000726	Dementia	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0001268	HP:0000726	Dementia	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0001268	HP:0002333	Motor deterioration	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0001268	HP:0007086	Social and occupational deterioration	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent		434
HP:0001268	HP:0000726	Dementia	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001268	HP:0000726	Dementia	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0001268	HP:0000726	Dementia	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001268	HP:0000726	Dementia	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0001268	HP:0000726	Dementia	1	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.		38
HP:0001268	HP:0002333	Motor deterioration	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040281 - Very frequent		32
HP:0001268	HP:0000726	Dementia	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0001268	HP:0000726	Dementia	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001268	HP:0000726	Dementia	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0001268	HP:0000726	Dementia	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0001268	HP:0007086	Social and occupational deterioration	1	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.		4
HP:0001268	HP:0000726	Dementia	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0001268	HP:0000726	Dementia	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.		34
HP:0001268	HP:0000726	Dementia	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0001268	HP:0000726	Dementia	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0001268	HP:0000726	Dementia	1	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.		12
HP:0001268	HP:0000726	Dementia	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0001268	HP:0000726	Dementia	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0001268	HP:0000726	Dementia	1	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0001268	HP:0000726	Dementia	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.		3
HP:0001268	HP:0000726	Dementia	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0001268	HP:0000726	Dementia	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001268	HP:0000726	Dementia	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0001268	HP:0002361	Psychomotor deterioration	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0001268	HP:0000726	Dementia	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		1
HP:0001268	HP:0000726	Dementia	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0001268	HP:0000726	Dementia	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0001268	HP:0000726	Dementia	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.		221
HP:0001268	HP:0000726	Dementia	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0001268	HP:0000726	Dementia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001268	HP:0007086	Social and occupational deterioration	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional		140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional		140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0001268	HP:0000726	Dementia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0001268	HP:0000726	Dementia	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	HP:0040283 - Occasional		80
HP:0001268	HP:0000726	Dementia	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040284 - Very rare		80
HP:0001268	HP:0000726	Dementia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0001268	HP:0002333	Motor deterioration	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001268	HP:0000726	Dementia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0001268	HP:0000726	Dementia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0001268	HP:0000726	Dementia	1	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.		11
HP:0001268	HP:0007086	Social and occupational deterioration	1	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.		183
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0001268	HP:0000726	Dementia	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0001268	HP:0000726	Dementia	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0001268	HP:0000726	Dementia	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0001268	HP:0000726	Dementia	1	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.		8
HP:0001268	HP:0000726	Dementia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0001268	HP:0000726	Dementia	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001268	HP:0000726	Dementia	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0001268	HP:0000726	Dementia	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0001268	HP:0002333	Motor deterioration	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0001268	HP:0000726	Dementia	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0001268	HP:0000726	Dementia	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0001268	HP:0000726	Dementia	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001268	HP:0000726	Dementia	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0001268	HP:0000726	Dementia	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0001268	HP:0002333	Motor deterioration	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional		641
HP:0001268	HP:0000726	Dementia	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.		55
HP:0001268	HP:0000726	Dementia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0001268	HP:0000726	Dementia	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0001268	HP:0000726	Dementia	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0001268	HP:0000726	Dementia	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional		28
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0001268	HP:0000726	Dementia	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.		55
HP:0001268	HP:0000726	Dementia	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0001268	HP:0000726	Dementia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0001268	HP:0002361	Psychomotor deterioration	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040281 - Very frequent		133
HP:0001268	HP:0000726	Dementia	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0001268	HP:0000726	Dementia	1	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.		50
HP:0001268	HP:0002333	Motor deterioration	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040282 - Frequent		4
HP:0001268	HP:0002361	Psychomotor deterioration	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0001268	HP:0000726	Dementia	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		103
HP:0001268	HP:0000726	Dementia	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0001268	HP:0000726	Dementia	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0001268	HP:0000726	Dementia	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		464
HP:0001268	HP:0000726	Dementia	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001268	HP:0000726	Dementia	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0001268	HP:0000726	Dementia	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional		5
HP:0001268	HP:0002361	Psychomotor deterioration	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0001268	HP:0000726	Dementia	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0001268	HP:0000726	Dementia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001268	HP:0000726	Dementia	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		133
HP:0001268	HP:0002333	Motor deterioration	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0001268	HP:0000726	Dementia	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040280 - Obligate		2
HP:0001268	HP:0000726	Dementia	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	HP:0003584 - Late onset	69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0001268	HP:0000726	Dementia	1	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.		69
HP:0001268	HP:0002361	Psychomotor deterioration	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		81
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0001268	HP:0000726	Dementia	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001268	HP:0000726	Dementia	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0001268	HP:0000726	Dementia	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4			59
HP:0001268	HP:0000726	Dementia	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001268	HP:0000726	Dementia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2	HP:0040283 - Occasional		67
HP:0001268	HP:0000726	Dementia	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	HP:0040283 - Occasional		34
HP:0001268	HP:0002333	Motor deterioration	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0001268	HP:0002333	Motor deterioration	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0001268	HP:0002361	Psychomotor deterioration	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0001268	HP:0000726	Dementia	1	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.		10
HP:0001268	HP:0000726	Dementia	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional		10
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001268	HP:0000726	Dementia	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		57
HP:0001268	HP:0000726	Dementia	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.		57
HP:0001268	HP:0002361	Psychomotor deterioration	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0001268	HP:0000726	Dementia	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		125
HP:0001268	HP:0007086	Social and occupational deterioration	1	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.		2
HP:0001268	HP:0000726	Dementia	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional		77
HP:0001268	HP:0000726	Dementia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001268	HP:0002333	Motor deterioration	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001268	HP:0002333	Motor deterioration	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001268	HP:0000726	Dementia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001268	HP:0000726	Dementia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0001268	HP:0002333	Motor deterioration	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001268	HP:0002333	Motor deterioration	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001268	HP:0000726	Dementia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0001268	HP:0000726	Dementia	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0001268	HP:0000726	Dementia	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent		73
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.		65
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.		65
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040283 - Occasional		65
HP:0001268	HP:0000726	Dementia	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0001268	HP:0000726	Dementia	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0001268	HP:0000726	Dementia	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.		2
HP:0001268	HP:0000726	Dementia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0001268	HP:0000726	Dementia	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0001268	HP:0000726	Dementia	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0001268	HP:0000726	Dementia	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040281 - Very frequent		28
HP:0001268	HP:0000726	Dementia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0001268	HP:0000726	Dementia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001268	HP:0000726	Dementia	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0001268	HP:0000726	Dementia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0001268	HP:0000726	Dementia	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0001268	HP:0007086	Social and occupational deterioration	1	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.		3
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0001268	HP:0000726	Dementia	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0001268	HP:0000726	Dementia	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0001268	HP:0000726	Dementia	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0001268	HP:0000726	Dementia	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0001268	HP:0000726	Dementia	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0001268	HP:0000726	Dementia	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0001268	HP:0000726	Dementia	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0001268	HP:0000726	Dementia	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001268	HP:0000726	Dementia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0001268	HP:0002333	Motor deterioration	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040281 - Very frequent		103
HP:0001268	HP:0000726	Dementia	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001268	HP:0000726	Dementia	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001268	HP:0000726	Dementia	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0001268	HP:0000726	Dementia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001268	HP:0000726	Dementia	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0001268	HP:0000726	Dementia	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0001268	HP:0000726	Dementia	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0001268	HP:0000726	Dementia	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0001268	HP:0000726	Dementia	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001268	HP:0000726	Dementia	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001268	HP:0000726	Dementia	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0001268	HP:0000726	Dementia	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0001268	HP:0000726	Dementia	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0001268	HP:0000726	Dementia	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional		66
HP:0001268	HP:0000726	Dementia	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0001268	HP:0000726	Dementia	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001268	HP:0000726	Dementia	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040284 - Very rare		138
HP:0001268	HP:0000726	Dementia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0001268	HP:0000726	Dementia	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0001268	HP:0000726	Dementia	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0001268	HP:0000726	Dementia	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0001268	HP:0000726	Dementia	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001268	HP:0000726	Dementia	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001268	HP:0002344	Progressive neurologic deterioration	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001268	HP:0000726	Dementia	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001268	HP:0000726	Dementia	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	HP:0040283 - Occasional		130
HP:0001268	HP:0000726	Dementia	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.		8
HP:0001268	HP:0000726	Dementia	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0001268	HP:0000726	Dementia	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040284 - Very rare		37
HP:0001268	HP:0000726	Dementia	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0001268	HP:0000726	Dementia	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0001268	HP:0000726	Dementia	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0001268	HP:0000726	Dementia	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent		389
HP:0001268	HP:0000726	Dementia	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.		4
HP:0001268	HP:0000726	Dementia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0001268	HP:0002145	Frontotemporal dementia	2	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0001268	HP:0002145	Frontotemporal dementia	2	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0001268	HP:0002145	Frontotemporal dementia	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0001268	HP:0002145	Frontotemporal dementia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0001268	HP:0002145	Frontotemporal dementia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		56
HP:0001268	HP:0002145	Frontotemporal dementia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0001268	HP:0002145	Frontotemporal dementia	2	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001268	HP:0002145	Frontotemporal dementia	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0001268	HP:0000727	Frontal lobe dementia	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0001268	HP:0002145	Frontotemporal dementia	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		11
HP:0001268	HP:0002145	Frontotemporal dementia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0001268	HP:0002145	Frontotemporal dementia	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0001268	HP:0002145	Frontotemporal dementia	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0001268	HP:0007064	Progressive language deterioration	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001268	HP:0007064	Progressive language deterioration	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0001268	HP:0000727	Frontal lobe dementia	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0001268	HP:0002145	Frontotemporal dementia	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0001268	HP:0002145	Frontotemporal dementia	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0001268	HP:0000727	Frontal lobe dementia	2	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0001268	HP:0007123	Subcortical dementia	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0001268	HP:0007123	Subcortical dementia	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0001268	HP:0000727	Frontal lobe dementia	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0001268	HP:0002145	Frontotemporal dementia	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		105
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0001268	HP:0002145	Frontotemporal dementia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0001268	HP:0007064	Progressive language deterioration	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0001268	HP:0002145	Frontotemporal dementia	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0001268	HP:0002145	Frontotemporal dementia	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0001268	HP:0002145	Frontotemporal dementia	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0001268	HP:0002145	Frontotemporal dementia	2	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.		5
HP:0001268	HP:0002145	Frontotemporal dementia	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0001268	HP:0000727	Frontal lobe dementia	2	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		39
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0001268	HP:0000727	Frontal lobe dementia	2	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0001268	HP:0002145	Frontotemporal dementia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0001268	HP:0000727	Frontal lobe dementia	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0001268	HP:0002145	Frontotemporal dementia	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0001268	HP:0002145	Frontotemporal dementia	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0001268	HP:0002145	Frontotemporal dementia	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0001268	HP:0002439	Frontolimbic dementia	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0001268	HP:0007123	Subcortical dementia	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0001268	HP:0000727	Frontal lobe dementia	2	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		23
HP:0001268	HP:0000727	Frontal lobe dementia	2	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		55
HP:0001268	HP:0002145	Frontotemporal dementia	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0001268	HP:0002145	Frontotemporal dementia	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0001268	HP:0000727	Frontal lobe dementia	2	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0001268	HP:0002145	Frontotemporal dementia	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0001268	HP:0000727	Frontal lobe dementia	2	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		138
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0001268	HP:0000727	Frontal lobe dementia	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0001268	HP:0002145	Frontotemporal dementia	2	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001268	HP:0007272	Progressive psychomotor deterioration	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001268	HP:0000727	Frontal lobe dementia	2	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0001268	HP:0002145	Frontotemporal dementia	2	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0001268	HP:0002145	Frontotemporal dementia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0001268	HP:0002145	Frontotemporal dementia	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0001268	HP:0002145	Frontotemporal dementia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		62
HP:0001268	HP:0007307	Rapid neurologic deterioration	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0001268	HP:0007307	Rapid neurologic deterioration	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0001268	HP:0000727	Frontal lobe dementia	2	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		9
HP:0001268	HP:0002145	Frontotemporal dementia	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0001268	HP:0002145	Frontotemporal dementia	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		65
HP:0001268	HP:0002145	Frontotemporal dementia	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0001268	HP:0002145	Frontotemporal dementia	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		20
HP:0001268	HP:0000727	Frontal lobe dementia	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0001268	HP:0002145	Frontotemporal dementia	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001268	HP:0002145	Frontotemporal dementia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0001268	HP:0002145	Frontotemporal dementia	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0001268	HP:0002145	Frontotemporal dementia	2	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0001268	HP:0002145	Frontotemporal dementia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0001268	HP:0002145	Frontotemporal dementia	2	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0001268	HP:0000727	Frontal lobe dementia	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0001268	HP:0002145	Frontotemporal dementia	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0001268	HP:0002145	Frontotemporal dementia	2	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	HP:0040283 - Occasional		6
HP:0001268	HP:0000727	Frontal lobe dementia	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0001268	HP:0000727	Frontal lobe dementia	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0001268	HP:0002145	Frontotemporal dementia	2	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.		20
HP:0001268	HP:0000727	Frontal lobe dementia	2	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		21
HP:0001268	HP:0002145	Frontotemporal dementia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0001268	HP:0002145	Frontotemporal dementia	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		63
HP:0001268	HP:0002145	Frontotemporal dementia	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001268	HP:0002145	Frontotemporal dementia	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0001268	HP:0002145	Frontotemporal dementia	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0001268	HP:0000727	Frontal lobe dementia	2	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0001268	HP:0002145	Frontotemporal dementia	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0001268	HP:0030219	Semantic dementia	3	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0001268	HP:0030219	Semantic dementia	3	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0001268	HP:0030219	Semantic dementia	3	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0001268	HP:0030219	Semantic dementia	3	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0001268	HP:0030219	Semantic dementia	3	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0001268	HP:0030219	Semantic dementia	3	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0001268	HP:0030219	Semantic dementia	3	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31

Genes (350) :AARS1 AARS2 AASS ABCA7 ABCD1 ACTB ACTL6B ADA2 ADH1C ALDH18A1 AMACR AP3B2 AP5Z1 APOE APOL2 APOL4 APP APTX ARSA ARV1 ASAH1 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATRX ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH BRAF BSCL2 C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA2D1 CARS2 CCNF CDH23 CDK19 CELF2 CERS1 CFAP43 CHCHD10 CHD2 CHI3L1 CHMP2B CISD2 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNTNAP2 COASY COG2 COL4A1 COMT COX1 COX2 COX3 COX6B1 CP CREBBP CSF1R CST3 CSTB CTC1 CTNS CTSD CTSF CUBN CUX2 CYC1 CYFIP2 CYLD CYP27A1 CYTB DALRD3 DAOA DARS2 DCAF17 DCTN1 DGUOK DHDDS DISC2 DLAT DNAJC13 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DRD3 EEF1A2 EIF4G1 EP300 EPM2A ERCC2 ERCC4 ERCC6 ERCC8 FA2H FAR1 FBXO7 FGF12 FGF13 FMR1 FRRS1L FTL FUS FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALK1 GALT GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GIGYF2 GLB1 GLUD2 GM2A GNAS GRIN2A GRIN2D GRN HCN1 HEPACAM HEXB HFE HGSNAT HIBCH HLA-DQB1 HMBS HNF4A HNRNPA1 HNRNPA2B1 HSD17B10 HTR2A HTRA1 HTRA2 HTT IDS IDUA IRF6 ITM2B JAM2 JPH3 KARS1 KCNA2 KCNB1 KCNC1 KCTD7 KMT2A L1CAM LIG3 LMNB1 LRPPRC LRRK2 LYST MAPK10 MAPT MATR3 MBTPS2 MCOLN1 MECP2 MFN2 MFSD8 MICOS13 MMACHC MPO MTHFR MYORG NAGLU NBN ND1 ND4 ND5 ND6 NDP NDUFA6 NDUFAF3 NDUFB8 NDUFS2 NECAP1 NHLRC1 NOS3 NOTCH2NLC NOTCH3 NPC1 NPC2 NR3C1 NR4A2 NRAS NTRK2 NUS1 OPA1 PAH PANK2 PARK7 PARS2 PDE10A PDE11A PDGFB PDGFRB PINK1 PLA2G6 PLAU PLEKHG4 PLP1 PMPCA PNPLA6 PODXL POLG POLR3K PPP2R2B PPP3CA PPT1 PRDM8 PRDX1 PRICKLE1 PRKAR1A PRKAR1B PRKCG PRKN PRNP PSAP PSEN1 PSEN2 PTS QDPR RAB27A RAB39B RBM28 RNASEH1 RNF216 RNU4ATAC ROGDI RRM2B RTN4R SCARB2 SCN1A SCN3A SCN8A SCO2 SDHA SDHAF1 SDHB SDHD SERPINI1 SGPL1 SLC13A3 SLC13A5 SLC1A2 SLC1A3 SLC20A2 SLC2A3 SLC38A3 SLC39A14 SLC44A1 SLC7A6OS SNCA SNCAIP SNCB SNORD118 SORL1 SPAST SPG11 SPG21 SQSTM1 STARD7 STUB1 SUMF1 SURF1 SYN2 SYNGAP1 SYNJ1 SZT2 TARDBP TBK1 TBP TIA1 TIMM8A TIMMDC1 TINF2 TK2 TLR3 TMEM106B TMEM240 TOMM40 TP53 TRAK1 TREM2 TREX1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM7 TTPA TTR TUBA4A TUBB4A TWNK TYMP TYROBP UBA5 UBAP1 UBQLN2 UBTF UCHL1 USP48 USP8 VCP VPS13A VPS13C VPS35 WDR45 WFS1 WWOX XPA XPR1 YWHAG ZFYVE26

Diseases (344) :OMIM:619661 ORPHA:442835 OMIM:615889 ORPHA:3124 ORPHA:1020 OMIM:300100 ORPHA:139396 ORPHA:79107 ORPHA:820 OMIM:182410 OMIM:168600 ORPHA:447753 ORPHA:447757 ORPHA:79095 OMIM:613647 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:181500 ORPHA:100006 ORPHA:324708 ORPHA:324713 ORPHA:324703 OMIM:104300 OMIM:605714 OMIM:208920 OMIM:250100 ORPHA:309271 ORPHA:309263 OMIM:159950 ORPHA:2590 ORPHA:101 OMIM:125370 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 ORPHA:2131 OMIM:614820 ORPHA:644 OMIM:551500 ORPHA:357074 OMIM:277900 ORPHA:96253 OMIM:603516 OMIM:183090 ORPHA:98756 OMIM:109150 OMIM:164500 ORPHA:94147 OMIM:250950 OMIM:615924 ORPHA:363400 ORPHA:289560 OMIM:614298 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100070 ORPHA:100069 ORPHA:2382 OMIM:616672 OMIM:619141 OMIM:616230 OMIM:236690 OMIM:615911 OMIM:600795 ORPHA:3463 OMIM:204200 ORPHA:228346 OMIM:256731 ORPHA:228360 OMIM:204300 OMIM:601780 OMIM:610003 ORPHA:1947 ORPHA:163681 OMIM:610042 OMIM:615643 ORPHA:435934 OMIM:618564 ORPHA:550 OMIM:540000 OMIM:619051 OMIM:604290 ORPHA:353281 ORPHA:353277 OMIM:618476 OMIM:221820 OMIM:105150 OMIM:254800 ORPHA:308 OMIM:612199 OMIM:219800 OMIM:610127 OMIM:615362 OMIM:261100 OMIM:615453 OMIM:619132 ORPHA:909 OMIM:213700 ORPHA:137898 ORPHA:3464 OMIM:168605 ORPHA:178509 ORPHA:329314 ORPHA:79244 ORPHA:411602 OMIM:162350 ORPHA:2828 ORPHA:98673 ORPHA:314404 OMIM:604121 OMIM:614116 ORPHA:353284 ORPHA:501 OMIM:254780 OMIM:278730 OMIM:278760 OMIM:214150 ORPHA:90324 OMIM:278800 OMIM:216400 ORPHA:171629 ORPHA:329308 OMIM:612319 ORPHA:171695 OMIM:300623 ORPHA:93256 ORPHA:725 OMIM:606159 ORPHA:157846 ORPHA:206448 ORPHA:206436 OMIM:245200 ORPHA:206443 ORPHA:79237 ORPHA:79239 OMIM:127750 ORPHA:77261 OMIM:608013 OMIM:230900 OMIM:231000 ORPHA:320391 OMIM:614409 ORPHA:206583 ORPHA:25 OMIM:233910 OMIM:618369 OMIM:230600 OMIM:272750 OMIM:219080 ORPHA:98818 OMIM:614706 OMIM:607485 OMIM:613925 OMIM:268800 ORPHA:309169 OMIM:252930 ORPHA:88639 OMIM:123400 ORPHA:79276 ORPHA:263455 ORPHA:52430 OMIM:615422 OMIM:300438 OMIM:600142 OMIM:616779 ORPHA:199354 ORPHA:399 OMIM:143100 ORPHA:248111 ORPHA:217093 ORPHA:217085 OMIM:607014 OMIM:119500 OMIM:176500 OMIM:117300 OMIM:618824 OMIM:606438 ORPHA:98934 OMIM:619196 OMIM:616187 ORPHA:263516 ORPHA:319182 ORPHA:306617 OMIM:619780 ORPHA:298 ORPHA:99027 OMIM:169500 ORPHA:70472 OMIM:607060 ORPHA:167 ORPHA:240071 OMIM:600274 OMIM:172700 ORPHA:240103 ORPHA:240085 ORPHA:240112 ORPHA:240094 OMIM:260540 OMIM:601104 OMIM:606070 ORPHA:600 ORPHA:2273 OMIM:252650 OMIM:312750 OMIM:609260 OMIM:610951 OMIM:618329 ORPHA:79282 OMIM:277400 ORPHA:395 OMIM:618317 OMIM:252920 ORPHA:647 OMIM:310600 OMIM:618253 ORPHA:70474 OMIM:603472 ORPHA:2289 OMIM:125310 ORPHA:136 OMIM:257220 OMIM:607625 OMIM:249400 ORPHA:79254 OMIM:607236 OMIM:234200 OMIM:616922 OMIM:610475 OMIM:213600 OMIM:615483 OMIM:615007 OMIM:616592 OMIM:605909 ORPHA:199351 ORPHA:35069 OMIM:610217 OMIM:612953 ORPHA:98765 OMIM:312080 ORPHA:280229 ORPHA:1170 ORPHA:1173 OMIM:203700 OMIM:607459 OMIM:619310 OMIM:604326 ORPHA:98762 OMIM:256730 ORPHA:324290 OMIM:616640 OMIM:610489 ORPHA:412066 OMIM:605361 OMIM:600072 OMIM:137440 ORPHA:356 ORPHA:157941 OMIM:603218 ORPHA:282166 OMIM:245300 OMIM:606688 OMIM:611722 OMIM:249900 OMIM:613697 OMIM:261640 OMIM:261630 OMIM:607624 OMIM:311510 OMIM:612079 ORPHA:157954 ORPHA:329336 OMIM:212840 OMIM:210710 ORPHA:1946 OMIM:226750 OMIM:612075 OMIM:607208 ORPHA:3208 OMIM:604218 OMIM:617575 OMIM:618384 OMIM:617013 OMIM:618868 OMIM:619191 OMIM:168601 OMIM:605543 ORPHA:542310 OMIM:614561 OMIM:182601 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:248900 OMIM:616437 OMIM:617145 OMIM:607876 OMIM:618093 ORPHA:585 OMIM:272200 OMIM:617389 OMIM:615530 OMIM:612069 OMIM:617900 OMIM:616439 OMIM:607136 ORPHA:98759 OMIM:619133 OMIM:304700 ORPHA:52368 OMIM:618251 OMIM:268130 ORPHA:254875 OMIM:613002 OMIM:607454 ORPHA:2770 OMIM:618193 ORPHA:247691 OMIM:192315 ORPHA:2596 ORPHA:1349 OMIM:105500 ORPHA:96 OMIM:105210 OMIM:616208 ORPHA:98805 OMIM:609286 OMIM:221770 OMIM:618418 OMIM:300857 OMIM:617672 ORPHA:329478 OMIM:167320 OMIM:200150 ORPHA:2388 OMIM:616840 ORPHA:329284 OMIM:300894 ORPHA:411590 OMIM:278700 OMIM:616413 ORPHA:100996

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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