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 nervous system physiology (HP:0012638)

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

..Starting node
..Cognitive impairment (HP:0100543)

Term ID:

100543

Name:

Cognitive impairment

Synonym:

Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment; Mental impairment

Definition:

Abnormality in the process of thought including the ability to process information.

Comments:

Reference:

HP:0100543

Genes and Diseases:

HPO-Disease-Gene Association for HP:0100543 and all of its descedant HPO terms

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	HGMD variants	ClinVar variants
HP:0100543	HP:0100543	Cognitive impairment	0	AASS	10157	238700	Hyperlysinemia	C0268553	OMIM	13	15
HP:0100543	HP:0100543	Cognitive impairment	0	ADAMTSL4	54507	1885	Distal myopathy	C0751336	ORPHA	20	84
HP:0100543	HP:0100543	Cognitive impairment	0	AKT1	207	201	Cowden syndrome		ORPHA	9	54
HP:0100543	HP:0100543	Cognitive impairment	0	ALG12	79087	79324	ALG12-CDG		ORPHA	13	68
HP:0100543	HP:0100543	Cognitive impairment	0	ALG2	85365	79326	ALG2-CDG		ORPHA	4	46
HP:0100543	HP:0100543	Cognitive impairment	0	ALG9	79796	79328	ALG9-CDG		ORPHA	4	93
HP:0100543	HP:0100543	Cognitive impairment	0	APTX	54840	208920	Adult onset ataxia with oculomotor apraxia	C1859598	OMIM	40	61
HP:0100543	HP:0100543	Cognitive impairment	0	ATR	545	808	Baker Vinters syndrome		ORPHA	15	168
HP:0100543	HP:0100543	Cognitive impairment	0	ATRIP	84126	808	Baker Vinters syndrome		ORPHA	2	1
HP:0100543	HP:0100543	Cognitive impairment	0	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0100543	HP:0100543	Cognitive impairment	0	AUH	549	250950	3-Methylglutaconic aciduria	C0342727	OMIM	11	49
HP:0100543	HP:0100543	Cognitive impairment	0	B3GALNT2	148789	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	13	43
HP:0100543	HP:0100543	Cognitive impairment	0	BBIP1	92482	615995	Bardet-Biedl syndrome 18	C3806174	OMIM	1	1
HP:0100543	HP:0100543	Cognitive impairment	0	BBS10	79738	615987	Bardet-Biedl syndrome 10	C1859568	OMIM	100	118
HP:0100543	HP:0100543	Cognitive impairment	0	BBS12	166379	615989	Bardet-Biedl syndrome 12	C1859570	OMIM	60	71
HP:0100543	HP:0100543	Cognitive impairment	0	BBS5	129880	615983	Bardet-Biedl syndrome 5	C3892039	OMIM	30	25
HP:0100543	HP:0100543	Cognitive impairment	0	CCDC78	124093	614807	Myopathy, centronuclear, 4	C3553709	OMIM	2	25
HP:0100543	HP:0100543	Cognitive impairment	0	CENPE	1062	808	Baker Vinters syndrome		ORPHA	4	20
HP:0100543	HP:0100543	Cognitive impairment	0	CENPJ	55835	808	Baker Vinters syndrome		ORPHA	7	161
HP:0100543	HP:0100543	Cognitive impairment	0	CEP152	22995	808	Baker Vinters syndrome		ORPHA	17	146
HP:0100543	HP:0100543	Cognitive impairment	0	CHL1	10752	1620	Cryptogenic Organizing Pneumonia		ORPHA	11	9
HP:0100543	HP:0100543	Cognitive impairment	0	CLCF1	23529	1545	Corsello Opitz syndrome		ORPHA	4	6
HP:0100543	HP:0100543	Cognitive impairment	0	CLMP	79827	2301	Congenital short bowel syndrome		ORPHA	13	7
HP:0100543	HP:0100543	Cognitive impairment	0	CNTN4	152330	1620	Cryptogenic Organizing Pneumonia		ORPHA	16	53
HP:0100543	HP:0100543	Cognitive impairment	0	COL3A1	1281	286	Imaizumi Kuroki syndrome		ORPHA	617	749
HP:0100543	HP:0100543	Cognitive impairment	0	COL5A1	1289	286	Imaizumi Kuroki syndrome		ORPHA	136	660
HP:0100543	HP:0100543	Cognitive impairment	0	CRBN	51185	1620	Cryptogenic Organizing Pneumonia		ORPHA	4	19
HP:0100543	HP:0100543	Cognitive impairment	0	CRLF1	9244	1545	Corsello Opitz syndrome		ORPHA	36	24
HP:0100543	HP:0100543	Cognitive impairment	0	CTDP1	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	C1858726	OMIM	1	17
HP:0100543	HP:0100543	Cognitive impairment	0	DDB2	1643	910	Blepharoptosis aortic anomaly		ORPHA	15	30
HP:0100543	HP:0100543	Cognitive impairment	0	DOLK	22845	91131	DK1-CDG		ORPHA	8	55
HP:0100543	HP:0100543	Cognitive impairment	0	DSTYK	25778	270750	Spastic paraplegia 23	C0796019	OMIM	7	13
HP:0100543	HP:0100543	Cognitive impairment	0	ERCC2	2068	910	Blepharoptosis aortic anomaly		ORPHA	94	106
HP:0100543	HP:0100543	Cognitive impairment	0	ERCC3	2071	910	Blepharoptosis aortic anomaly		ORPHA	17	54
HP:0100543	HP:0100543	Cognitive impairment	0	ERCC3	2071	616390	Trichothiodystrophy 2, photosensitive	C4225344	OMIM	17	54
HP:0100543	HP:0100543	Cognitive impairment	0	ERCC4	2072	910	Blepharoptosis aortic anomaly		ORPHA	39	158
HP:0100543	HP:0100543	Cognitive impairment	0	ERCC5	2073	910	Blepharoptosis aortic anomaly		ORPHA	53	83
HP:0100543	HP:0100543	Cognitive impairment	0	ERF	2077	2343	Fitzsimmons-Guilbert syndrome	C0795942	ORPHA	13	12
HP:0100543	HP:0100543	Cognitive impairment	0	FAS	355	3437	Vogt-Koyanagi-Harada disease		ORPHA	136	59
HP:0100543	HP:0100543	Cognitive impairment	0	FBN1	2200	1885	Distal myopathy	C0751336	ORPHA	2067	1361
HP:0100543	HP:0100543	Cognitive impairment	0	FGD1	2245	915	Bloom syndrome	C0005859	ORPHA	45	62
HP:0100543	HP:0100543	Cognitive impairment	0	FGFR3	2261	93274	Thanatophoric dysplasia type 2		ORPHA	69	145
HP:0100543	HP:0100543	Cognitive impairment	0	FKRP	79147	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	114	157
HP:0100543	HP:0100543	Cognitive impairment	0	FKTN	2218	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	51	184
HP:0100543	HP:0100543	Cognitive impairment	0	FLNA	2316	2301	Congenital short bowel syndrome		ORPHA	211	493
HP:0100543	HP:0100543	Cognitive impairment	0	GBE1	2632	263570	Polyglucosan body disease, adult	C1849722	OMIM	70	86
HP:0100543	HP:0100543	Cognitive impairment	0	GDF5	8200	968	Brachydactyly long thumb type	C1862169	ORPHA	52	52
HP:0100543	HP:0100543	Cognitive impairment	0	GJB2	2706	494	Keratoderma hereditarium mutilans		ORPHA	388	199
HP:0100543	HP:0100543	Cognitive impairment	0	GJC2	57165	608804	Leukodystrophy, hypomyelinating, 2	C1837355	OMIM	53	37
HP:0100543	HP:0100543	Cognitive impairment	0	GLA	2717	324	Slti Salem syndrome		ORPHA	911	291
HP:0100543	HP:0100543	Cognitive impairment	0	GMPPB	29925	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	29	34
HP:0100543	HP:0100543	Cognitive impairment	0	GNAS	2778	103580	Pseudohypoparathyroidism type 1A	C0033806	OMIM	259	101
HP:0100543	HP:0100543	Cognitive impairment	0	GNAS	2778	612462	Pseudohypoparathyroidism type 1C	C2675910	OMIM	259	101
HP:0100543	HP:0100543	Cognitive impairment	0	GNAS	2778	612463	Pseudopseudohypoparathyroidism	C0033835	OMIM	259	101
HP:0100543	HP:0100543	Cognitive impairment	0	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0100543	HP:0100543	Cognitive impairment	0	INSR	3643	508	Acroosteolysis dominant type		ORPHA	179	229
HP:0100543	HP:0100543	Cognitive impairment	0	ITGA7	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	C2750786	OMIM	7	127
HP:0100543	HP:0100543	Cognitive impairment	0	KATNB1	10300	616212	Lissencephaly 6, with microcephaly	C4015525	OMIM	11	10
HP:0100543	HP:0100543	Cognitive impairment	0	KCNT1	57582	615005	Epilepsy, nocturnal frontal lobe, 5	C3554306	OMIM	31	321
HP:0100543	HP:0100543	Cognitive impairment	0	KLLN	100144748	201	Cowden syndrome		ORPHA	8	1
HP:0100543	HP:0100543	Cognitive impairment	0	LAMP2	3920	300257	Danon disease	C0878677	OMIM	95	211
HP:0100543	HP:0100543	Cognitive impairment	0	LARGE1	9215	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	22	136
HP:0100543	HP:0100543	Cognitive impairment	0	LZTFL1	54585	615994	Bardet-Biedl syndrome 17	C3714980	OMIM	3	4
HP:0100543	HP:0100543	Cognitive impairment	0	MAOA	4128	3057	Jorgenson Lenz syndrome		ORPHA	16	22
HP:0100543	HP:0100543	Cognitive impairment	0	MARS2	92935	611390	Ataxia, spastic, 3, autosomal recessive	C1969645	OMIM	5	25
HP:0100543	HP:0100543	Cognitive impairment	0	MPDU1	9526	79323	MPDU1-CDG		ORPHA	5	32
HP:0100543	HP:0100543	Cognitive impairment	0	MTFMT	123263	614947	Combined oxidative phosphorylation deficiency 15	C3554182	OMIM	16	29
HP:0100543	HP:0100543	Cognitive impairment	0	MTO1	25821	614702	Combined oxidative phosphorylation deficiency 10	C3553529	OMIM	13	39
HP:0100543	HP:0100543	Cognitive impairment	0	NAGA	4668	609242	Kanzaki disease	C1836522	OMIM	7	47
HP:0100543	HP:0100543	Cognitive impairment	0	NAGS	162417	237310	Hyperammonemia, type III	C0268543	OMIM	45	36
HP:0100543	HP:0100543	Cognitive impairment	0	ND5	4540	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	NPHP1	4867	609583	Joubert syndrome 4	C1846790	OMIM	69	85
HP:0100543	HP:0100543	Cognitive impairment	0	OCRL	4952	300555	Dent disease 2	C1845167	OMIM	253	88
HP:0100543	HP:0100543	Cognitive impairment	0	OPA3	80207	258501	3-Methylglutaconic aciduria type 3	C0574084	OMIM	15	163
HP:0100543	HP:0100543	Cognitive impairment	0	PCNT	5116	808	Baker Vinters syndrome		ORPHA	82	531
HP:0100543	HP:0100543	Cognitive impairment	0	PEX1	5189	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	123	169
HP:0100543	HP:0100543	Cognitive impairment	0	PEX10	5192	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	30	75
HP:0100543	HP:0100543	Cognitive impairment	0	PEX11B	8799	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	5	4
HP:0100543	HP:0100543	Cognitive impairment	0	PEX12	5193	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	34	65
HP:0100543	HP:0100543	Cognitive impairment	0	PEX13	5194	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	10	66
HP:0100543	HP:0100543	Cognitive impairment	0	PEX14	5195	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	4	46
HP:0100543	HP:0100543	Cognitive impairment	0	PEX16	9409	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	12	59
HP:0100543	HP:0100543	Cognitive impairment	0	PEX19	5824	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	3	62
HP:0100543	HP:0100543	Cognitive impairment	0	PEX2	5828	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	18	82
HP:0100543	HP:0100543	Cognitive impairment	0	PEX26	55670	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	23	106
HP:0100543	HP:0100543	Cognitive impairment	0	PEX3	8504	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	7	47
HP:0100543	HP:0100543	Cognitive impairment	0	PEX5	5830	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	14	99
HP:0100543	HP:0100543	Cognitive impairment	0	PEX6	5190	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	104	98
HP:0100543	HP:0100543	Cognitive impairment	0	PGM3	5238	615816	Immunodeficiency 23	C4014371	OMIM	12	15
HP:0100543	HP:0100543	Cognitive impairment	0	PIK3CA	5290	201	Cowden syndrome		ORPHA	46	162
HP:0100543	HP:0100543	Cognitive impairment	0	PLK4	10733	808	Baker Vinters syndrome		ORPHA	5	11
HP:0100543	HP:0100543	Cognitive impairment	0	POLG	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	C1843851	OMIM	277	464
HP:0100543	HP:0100543	Cognitive impairment	0	POMGNT1	55624	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	73	180
HP:0100543	HP:0100543	Cognitive impairment	0	POMK	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	C4015184	OMIM	6	18
HP:0100543	HP:0100543	Cognitive impairment	0	POMT1	10585	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	83	213
HP:0100543	HP:0100543	Cognitive impairment	0	POMT2	29954	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	51	221
HP:0100543	HP:0100543	Cognitive impairment	0	PORCN	64840	2092	Ehrlichiosis		ORPHA	115	20
HP:0100543	HP:0100543	Cognitive impairment	0	PTEN	5728	201	Cowden syndrome		ORPHA	582	948
HP:0100543	HP:0100543	Cognitive impairment	0	PTPN22	26191	3437	Vogt-Koyanagi-Harada disease		ORPHA	12	3
HP:0100543	HP:0100543	Cognitive impairment	0	RBBP8	5932	808	Baker Vinters syndrome		ORPHA	6	68
HP:0100543	HP:0100543	Cognitive impairment	0	RIN2	54453	217335	RIN2 syndrome		ORPHA	3	43
HP:0100543	HP:0100543	Cognitive impairment	0	RNR1	4549	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	ROBO3	64221	2744	Horizontal gaze palsy with progressive scoliosis		ORPHA	33	90
HP:0100543	HP:0100543	Cognitive impairment	0	SCN8A	6334	614306	Cognitive impairment with or without cerebellar ataxia	C3280415	OMIM	65	357
HP:0100543	HP:0100543	Cognitive impairment	0	SDCCAG8	10806	615993	Bardet-Biedl syndrome 16	C3889474	OMIM	18	61
HP:0100543	HP:0100543	Cognitive impairment	0	SDHA	6389	252011	Mitochondrial complex II deficiency	C1855008	OMIM	44	304
HP:0100543	HP:0100543	Cognitive impairment	0	SDHAF1	644096	252011	Mitochondrial complex II deficiency	C1855008	OMIM	6	16
HP:0100543	HP:0100543	Cognitive impairment	0	SDHB	6390	201	Cowden syndrome		ORPHA	254	237
HP:0100543	HP:0100543	Cognitive impairment	0	SDHC	6391	201	Cowden syndrome		ORPHA	56	147
HP:0100543	HP:0100543	Cognitive impairment	0	SDHD	6392	201	Cowden syndrome		ORPHA	161	129
HP:0100543	HP:0100543	Cognitive impairment	0	SDHD	6392	252011	Mitochondrial complex II deficiency	C1855008	OMIM	161	129
HP:0100543	HP:0100543	Cognitive impairment	0	SEC23B	10483	201	Cowden syndrome		ORPHA	111	60
HP:0100543	HP:0100543	Cognitive impairment	0	SLC18A2	6571	352649	Brain dopamine-serotonin vesicular transport disease		ORPHA	5	2
HP:0100543	HP:0100543	Cognitive impairment	0	SMC1A	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	C1802395	OMIM	67	135
HP:0100543	HP:0100543	Cognitive impairment	0	SOST	50964	269500	Sclerosteosis	C0265301	OMIM	16	26
HP:0100543	HP:0100543	Cognitive impairment	0	TBL1XR1	79718	270710	Fitzsimmons-Guilbert syndrome	C0795942	OMIM	14	22
HP:0100543	HP:0100543	Cognitive impairment	0	TMEM240	339453	607454	Spinocerebellar ataxia 21	C1843891	OMIM	6	9
HP:0100543	HP:0100543	Cognitive impairment	0	TRAIP	10293	808	Baker Vinters syndrome		ORPHA	2	2
HP:0100543	HP:0100543	Cognitive impairment	0	TRNF	4558	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNH	4564	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNK	4566	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNL1	4567	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNP	4571	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNQ	4572	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNS1	4574	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TRNS2	4575	551	MERRF		ORPHA
HP:0100543	HP:0100543	Cognitive impairment	0	TSC1	7248	607341	Focal cortical dysplasia of Taylor	C1846385	OMIM	326	1090
HP:0100543	HP:0100543	Cognitive impairment	0	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43
HP:0100543	HP:0100543	Cognitive impairment	0	TTC19	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	C3554605	OMIM	9	88
HP:0100543	HP:0100543	Cognitive impairment	0	TTC37	9652	222470	Trichohepatoenteric syndrome 1	CN034858	OMIM	37	29
HP:0100543	HP:0100543	Cognitive impairment	0	TTC8	123016	615985	Bardet-Biedl syndrome 8	C1859566	OMIM	16	41
HP:0100543	HP:0100543	Cognitive impairment	0	TWNK	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	C1843851	OMIM	74	113
HP:0100543	HP:0100543	Cognitive impairment	0	UBA1	7317	1145	Cataract and congenital ichthyosis	C1859315	ORPHA	4	35
HP:0100543	HP:0100543	Cognitive impairment	0	WDR73	84942	2065	Galloway-Mowat syndrome		ORPHA	11	14
HP:0100543	HP:0100543	Cognitive impairment	0	XPA	7507	910	Blepharoptosis aortic anomaly		ORPHA	48	34
HP:0100543	HP:0100543	Cognitive impairment	0	XPC	7508	910	Blepharoptosis aortic anomaly		ORPHA	93	86
HP:0100543	HP:0100543	Cognitive impairment	0	XRCC4	7518	616541	Short stature, microcephaly, and endocrine dysfunction	C4225288	OMIM	15	9
HP:0100543	HP:0001268	Mental deterioration	1	ACTB	60	79107	Developmental malformations-deafness-dystonia syndrome		ORPHA	27	72
HP:0100543	HP:0002354	Memory impairment	1	ADA2	51816	820	Bardet-Biedl syndrome 1	C2936862	ORPHA	31	22
HP:0100543	HP:0001268	Mental deterioration	1	ADA2	51816	182410	Idiopathic livedo reticularis with systemic involvement	C0282492	OMIM	31	22
HP:0100543	HP:0002354	Memory impairment	1	APP	351	324708	ABeta amyloidosis, Iowa type		ORPHA	103	74
HP:0100543	HP:0001268	Mental deterioration	1	ARSA	410	250100	Metachromatic leukodystrophy	C0023522	OMIM	217	253
HP:0100543	HP:0001268	Mental deterioration	1	ATP1A2	477	104290	Alternating hemiplegia of childhood 1	C3549447	OMIM	85	239
HP:0100543	HP:0001268	Mental deterioration	1	ATP1A3	478	614820	Alternating hemiplegia of childhood 2	C3553788	OMIM	100	150
HP:0100543	HP:0001268	Mental deterioration	1	BSCL2	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	C4014700	OMIM	45	105
HP:0100543	HP:0002354	Memory impairment	1	C9ORF72	203228	275864	Behavioral variant of frontotemporal dementia		ORPHA	22	56
HP:0100543	HP:0002354	Memory impairment	1	C9ORF72	203228	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	22	56
HP:0100543	HP:0001268	Mental deterioration	1	CHD2	1106	2382	Lennox-Gastaut syndrome		ORPHA	39	227
HP:0100543	HP:0001268	Mental deterioration	1	CHD2	1106	1942	Myoclonic-astastic epilepsy		ORPHA	39	227
HP:0100543	HP:0002354	Memory impairment	1	CHMP2B	25978	275864	Behavioral variant of frontotemporal dementia		ORPHA	21	42
HP:0100543	HP:0002354	Memory impairment	1	CHMP2B	25978	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	21	42
HP:0100543	HP:0002354	Memory impairment	1	CHMP2B	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	C1833296	OMIM	21	42
HP:0100543	HP:0001268	Mental deterioration	1	CLN8	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	C1864923	OMIM	41	111
HP:0100543	HP:0001268	Mental deterioration	1	CLN8	2055	1947	Progressive epilepsy-intellectual disability syndrome, Finnish type		ORPHA	41	111
HP:0100543	HP:0001268	Mental deterioration	1	COASY	80347	615643	Neurodegeneration with brain iron accumulation 6	C3810230	OMIM	2	16
HP:0100543	HP:0002354	Memory impairment	1	COX1	4512	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	COX2	4513	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	COX3	4514	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	CSF1R	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	C1857300	OMIM	77	149
HP:0100543	HP:0001268	Mental deterioration	1	CSTB	1476	254800	Unverricht-Lundborg syndrome	C0751785	OMIM	14	51
HP:0100543	HP:0001268	Mental deterioration	1	CTC1	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts	C2677299	OMIM	29	160
HP:0100543	HP:0001268	Mental deterioration	1	CTSD	1509	610127	Ceroid lipofuscinosis neuronal 10	C1864669	OMIM	15	159
HP:0100543	HP:0001268	Mental deterioration	1	DCAF17	80067	3464	Woodhouse-Sakati syndrome		ORPHA	12	87
HP:0100543	HP:0001268	Mental deterioration	1	DNM1	1759	2382	Lennox-Gastaut syndrome		ORPHA	17	72
HP:0100543	HP:0002354	Memory impairment	1	DNMT1	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	C1858804	OMIM	20	145
HP:0100543	HP:0002354	Memory impairment	1	DNMT1	1786	614116	Hereditary sensory neuropathy type IE	C3279885	OMIM	20	145
HP:0100543	HP:0002354	Memory impairment	1	ECM1	1893	247100	Lipid proteinosis	C0023795	OMIM	58	14
HP:0100543	HP:0002354	Memory impairment	1	EIF2B1	1967	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	9	42
HP:0100543	HP:0002354	Memory impairment	1	EIF2B2	8892	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	26	24
HP:0100543	HP:0002354	Memory impairment	1	EIF2B3	8891	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	20	32
HP:0100543	HP:0002354	Memory impairment	1	EIF2B4	8890	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	32	38
HP:0100543	HP:0002354	Memory impairment	1	EIF2B5	8893	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	95	48
HP:0100543	HP:0001268	Mental deterioration	1	ERCC2	2068	278730	Xeroderma pigmentosum, group D	C0268138	OMIM	94	106
HP:0100543	HP:0001268	Mental deterioration	1	ERCC6	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	C0265201	OMIM	96	199
HP:0100543	HP:0001268	Mental deterioration	1	FA2H	79152	612319	Spastic paraplegia 35	C3668943	OMIM	41	76
HP:0100543	HP:0002354	Memory impairment	1	FGF14	2259	609307	Spinocerebellar ataxia 27	C1836383	OMIM	9	47
HP:0100543	HP:0002354	Memory impairment	1	FMR1	2332	300623	Fragile X tremor/ataxia syndrome	C1839780	OMIM	81	30
HP:0100543	HP:0002354	Memory impairment	1	FMR1	2332	93256	Fragile X-associated tremor/ataxia syndrome		ORPHA	81	30
HP:0100543	HP:0001268	Mental deterioration	1	GABRB3	2562	2382	Lennox-Gastaut syndrome		ORPHA	50	57
HP:0100543	HP:0001268	Mental deterioration	1	GNAS	2778	219080	Cushing's syndrome	C1857451	OMIM	259	101
HP:0100543	HP:0002354	Memory impairment	1	GRN	2896	275864	Behavioral variant of frontotemporal dementia		ORPHA	170	126
HP:0100543	HP:0002354	Memory impairment	1	GRN	2896	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	170	126
HP:0100543	HP:0002354	Memory impairment	1	GRN	2896	607485	Frontotemporal dementia, ubiquitin-positive	C1843792	OMIM	170	126
HP:0100543	HP:0001268	Mental deterioration	1	MAPK10	5602	2382	Lennox-Gastaut syndrome		ORPHA	4	61
HP:0100543	HP:0002354	Memory impairment	1	MAPT	4137	275864	Behavioral variant of frontotemporal dementia		ORPHA	106	140
HP:0100543	HP:0002354	Memory impairment	1	MAPT	4137	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	106	140
HP:0100543	HP:0002354	Memory impairment	1	MAPT	4137	601104	Progressive supranuclear ophthalmoplegia	C0038868	OMIM	106	140
HP:0100543	HP:0001268	Mental deterioration	1	MFSD8	256471	610951	Ceroid lipofuscinosis neuronal 7	C1838571	OMIM	41	120
HP:0100543	HP:0001268	Mental deterioration	1	NBN	4683	647	Ameloonychohypohidrotic syndrome	C1863006	ORPHA	69	706
HP:0100543	HP:0002354	Memory impairment	1	ND1	4535	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	ND4	4538	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	ND5	4540	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	ND6	4541	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	NOTCH3	4854	136	Dextrocardia with unusual facies and microphthalmia	C1857298	ORPHA	327	144
HP:0100543	HP:0001268	Mental deterioration	1	NRAS	4893	249400	Neurocutaneous melanosis	C0544862	OMIM	9	102
HP:0100543	HP:0002354	Memory impairment	1	PAH	5053	79254	Classic phenylketonuria		ORPHA	907	641
HP:0100543	HP:0001268	Mental deterioration	1	PDE11A	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	C1864851	OMIM	19	13
HP:0100543	HP:0001268	Mental deterioration	1	PDGFB	5155	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	17	9
HP:0100543	HP:0002354	Memory impairment	1	PDGFB	5155	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	17	9
HP:0100543	HP:0002354	Memory impairment	1	PDGFRB	5159	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	11	28
HP:0100543	HP:0001268	Mental deterioration	1	PDGFRB	5159	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	11	28
HP:0100543	HP:0001268	Mental deterioration	1	PLA2G6	8398	610217	Neurodegeneration with brain iron accumulation 2b	C1857747	OMIM	155	133
HP:0100543	HP:0001268	Mental deterioration	1	PLA2G6	8398	612953	Parkinson disease 14	C2751842	OMIM	155	133
HP:0100543	HP:0001268	Mental deterioration	1	PRICKLE2	166336	613832	Epilepsy, progressive myoclonic 5	CN226157	OMIM	6	107
HP:0100543	HP:0001268	Mental deterioration	1	PRKAR1A	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	C1864846	OMIM	174	134
HP:0100543	HP:0001268	Mental deterioration	1	PRKCG	5582	605361	Spinocerebellar ataxia 14	C1854369	OMIM	40	83
HP:0100543	HP:0002354	Memory impairment	1	PRKCG	5582	605361	Spinocerebellar ataxia 14	C1854369	OMIM	40	83
HP:0100543	HP:0002354	Memory impairment	1	PRNP	5621	137440	Gerstmann-Straussler-Scheinker syndrome	C0017495	OMIM	102	69
HP:0100543	HP:0002354	Memory impairment	1	PRNP	5621	123400	Jakob-Creutzfeldt disease	C0022336	OMIM	102	69
HP:0100543	HP:0001268	Mental deterioration	1	PSAP	5660	249900	Sphingolipid activator protein 1 deficiency	C0268262	OMIM	24	81
HP:0100543	HP:0002354	Memory impairment	1	PSEN1	5663	607822	Alzheimer disease, type 3	C1843013	OMIM	297	241
HP:0100543	HP:0002354	Memory impairment	1	PSEN1	5663	275864	Behavioral variant of frontotemporal dementia		ORPHA	297	241
HP:0100543	HP:0002354	Memory impairment	1	PSEN1	5663	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	297	241
HP:0100543	HP:0001268	Mental deterioration	1	SCN1A	6323	2382	Lennox-Gastaut syndrome		ORPHA	1443	1053
HP:0100543	HP:0001268	Mental deterioration	1	SCN1A	6323	607208	Severe myoclonic epilepsy in infancy	C0751122	OMIM	1443	1053
HP:0100543	HP:0002354	Memory impairment	1	SIM1	6492	369873	Obesity due to SIM1 deficiency		ORPHA	42	40
HP:0100543	HP:0002354	Memory impairment	1	SLC20A2	6575	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	62	70
HP:0100543	HP:0001268	Mental deterioration	1	SLC20A2	6575	213600	Idiopathic basal ganglia calcification 1	C0393590	OMIM	62	70
HP:0100543	HP:0001268	Mental deterioration	1	SLC6A1	6529	1942	Myoclonic-astastic epilepsy		ORPHA	16	29
HP:0100543	HP:0001268	Mental deterioration	1	SNCA	6622	168601	Parkinson disease 1	C1868595	OMIM	37	65
HP:0100543	HP:0001268	Mental deterioration	1	SNORD118	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	C3281200	OMIM	35	6
HP:0100543	HP:0002354	Memory impairment	1	SPAST	6683	182601	Spastic paraplegia 4, autosomal dominant	C1866855	OMIM	659	208
HP:0100543	HP:0001268	Mental deterioration	1	SPG11	80208	2822	Hyperinsulinism, focal		ORPHA	251	287
HP:0100543	HP:0001268	Mental deterioration	1	SPG11	80208	604360	Spastic paraplegia 11, autosomal recessive	C1858479	OMIM	251	287
HP:0100543	HP:0002354	Memory impairment	1	SPG7	6687	607259	Spastic paraplegia 7	C1846564	OMIM	104	171
HP:0100543	HP:0002354	Memory impairment	1	SQSTM1	8878	275864	Behavioral variant of frontotemporal dementia		ORPHA	88	62
HP:0100543	HP:0001268	Mental deterioration	1	TBC1D24	57465	352582	Familial infantile myoclonic epilepsy		ORPHA	47	271
HP:0100543	HP:0001268	Mental deterioration	1	TIMM8A	1678	304700	Mohr-Tranebjaerg syndrome	C0796074	OMIM	21	15
HP:0100543	HP:0002354	Memory impairment	1	TREM2	54209	275864	Behavioral variant of frontotemporal dementia		ORPHA	43	31
HP:0100543	HP:0002354	Memory impairment	1	TREM2	54209	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	43	31
HP:0100543	HP:0002354	Memory impairment	1	TREM2	54209	2770	Nasu-Hakola disease		ORPHA	43	31
HP:0100543	HP:0002354	Memory impairment	1	TREM2	54209	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	C1857316	OMIM	43	31
HP:0100543	HP:0001268	Mental deterioration	1	TREX1	11277	247691	Retinal vasculopathy and cerebral leukoencephalopathy		ORPHA	65	56
HP:0100543	HP:0002354	Memory impairment	1	TRNF	4558	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNH	4564	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0001268	Mental deterioration	1	TRNK	4566	1349	Chromosome 9, partial monosomy 9p	C2931695	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNL1	4567	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNQ	4572	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNS1	4574	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNS2	4575	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TRNW	4578	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0100543	HP:0002354	Memory impairment	1	TYROBP	7305	2770	Nasu-Hakola disease		ORPHA	14	22
HP:0100543	HP:0002354	Memory impairment	1	TYROBP	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	C1857316	OMIM	14	22
HP:0100543	HP:0002354	Memory impairment	1	VAMP1	6843	108600	Ataxia, spastic, 1, autosomal dominant	C1970107	OMIM	4	2
HP:0100543	HP:0002354	Memory impairment	1	VCP	7415	275864	Behavioral variant of frontotemporal dementia		ORPHA	52	63
HP:0100543	HP:0002354	Memory impairment	1	VCP	7415	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	52	63
HP:0100543	HP:0002354	Memory impairment	1	VPS13A	23230	2388	Friedreich ataxia congenital glaucoma	C1856688	ORPHA	113	130
HP:0100543	HP:0001268	Mental deterioration	1	XPA	7507	278700	Xeroderma pigmentosum, type 1	C0268135	OMIM	48	34
HP:0100543	HP:0002354	Memory impairment	1	XPR1	9213	616413	Basal ganglia calcification, idiopathic, 6	C4225335	OMIM	5	4
HP:0100543	HP:0000726	Dementia	2	AARS2	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	C4014588	OMIM	26	143
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	ABCC8	6833	276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		ORPHA	612	245
HP:0100543	HP:0000726	Dementia	2	ABCD1	215	300100	Adrenoleukodystrophy	C0162309	OMIM	657	135
HP:0100543	HP:0000726	Dementia	2	ADA2	51816	820	Bardet-Biedl syndrome 1	C2936862	ORPHA	31	22
HP:0100543	HP:0000726	Dementia	2	AMN	81693	261100	Megaloblastic anemia due to inborn errors of metabolism	C1306856	OMIM	32	25
HP:0100543	HP:0000726	Dementia	2	APOE	348	104310	Alzheimer disease 2	C1863051	OMIM	60	39
HP:0100543	HP:0000726	Dementia	2	APOE	348	606889	Alzheimer disease, type 4	C1847200	OMIM	60	39
HP:0100543	HP:0000726	Dementia	2	APP	351	100006	ABeta amyloidosis, Dutch type		ORPHA	103	74
HP:0100543	HP:0000726	Dementia	2	APP	351	324708	ABeta amyloidosis, Iowa type		ORPHA	103	74
HP:0100543	HP:0000726	Dementia	2	APP	351	324713	ABeta amyloidosis, Italian type		ORPHA	103	74
HP:0100543	HP:0000726	Dementia	2	APP	351	324703	ABetaL34V amyloidosis		ORPHA	103	74
HP:0100543	HP:0000726	Dementia	2	APP	351	104300	Alzheimer's disease	C0002395	OMIM	103	74
HP:0100543	HP:0000726	Dementia	2	APP	351	605714	Cerebral amyloid angiopathy, APP-related	C2751536	OMIM	103	74
HP:0100543	HP:0000726	Dementia	2	ASAH1	427	159950	Jankovic Rivera syndrome	C1834569	OMIM	55	78
HP:0100543	HP:0000726	Dementia	2	ASAH1	427	2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		ORPHA	55	78
HP:0100543	HP:0000726	Dementia	2	ATP13A2	23400	606693	Parkinson disease 9	C1847640	OMIM	38	100
HP:0100543	HP:0000726	Dementia	2	ATP6	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	C1838914	OMIM
HP:0100543	HP:0000726	Dementia	2	ATP7B	540	277900	Wilson disease	C0019202	OMIM	878	315
HP:0100543	HP:0000726	Dementia	2	ATXN10	25814	603516	Spinocerebellar ataxia 10	C1963674	OMIM	4	9
HP:0100543	HP:0000726	Dementia	2	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0100543	HP:0000726	Dementia	2	ATXN3	4287	109150	Azorean disease	C0024408	OMIM	3	14
HP:0100543	HP:0000726	Dementia	2	C19ORF12	83636	614298	Neurodegeneration with brain iron accumulation 4	C3280371	OMIM	36	114
HP:0100543	HP:0000726	Dementia	2	CERS1	10715	616230	Epilepsy, progressive myoclonic 8	C4015619	OMIM	1	1
HP:0100543	HP:0002361	Psychomotor deterioration	2	CLN3	1201	204200	Juvenile neuronal ceroid lipofuscinosis	C0751383	OMIM	66	216
HP:0100543	HP:0000726	Dementia	2	CLN3	1201	204200	Juvenile neuronal ceroid lipofuscinosis	C0751383	OMIM	66	216
HP:0100543	HP:0002333	Motor deterioration	2	CLN5	1203	256731	Ceroid lipofuscinosis neuronal 5	C1850442	OMIM	43	141
HP:0100543	HP:0000726	Dementia	2	CLN6	54982	204300	Adult neuronal ceroid lipofuscinosis	C0022797	OMIM	80	143
HP:0100543	HP:0002333	Motor deterioration	2	CLN6	54982	601780	Ceroid lipofuscinosis neuronal 6	C1866282	OMIM	80	143
HP:0100543	HP:0000726	Dementia	2	COX1	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	COX2	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	COX3	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	CP	1356	48818	Aceruloplasminemia		ORPHA	51	115
HP:0100543	HP:0000726	Dementia	2	CP	1356	604290	Deficiency of ferroxidase	C0878682	OMIM	51	115
HP:0100543	HP:0000726	Dementia	2	CST3	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	C1527338	OMIM	5	3
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	CTNS	1497	219800	Nephropathic cystinosis	C0010690	OMIM	141	178
HP:0100543	HP:0000726	Dementia	2	CTSF	8722	615362	Ceroid lipofuscinosis, neuronal, 13	C3715049	OMIM	9	20
HP:0100543	HP:0010534	Transient global amnesia	2	CTSH	1512	2073	Narcolepsy-cataplexy syndrome		ORPHA	1	1
HP:0100543	HP:0000726	Dementia	2	CUBN	8029	261100	Megaloblastic anemia due to inborn errors of metabolism	C1306856	OMIM	53	273
HP:0100543	HP:0000726	Dementia	2	CYP27A1	1593	213700	Cholestanol storage disease	C0238052	OMIM	103	114
HP:0100543	HP:0000726	Dementia	2	CYTB	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0007086	Social and occupational deterioration	2	DISC2	27184	181500	Schizophrenia	C0036341	OMIM
HP:0100543	HP:0000726	Dementia	2	DNMT1	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	C1858804	OMIM	20	145
HP:0100543	HP:0000726	Dementia	2	DNMT1	1786	614116	Hereditary sensory neuropathy type IE	C3279885	OMIM	20	145
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	EPM2A	7957	254780	Lafora disease	C0751783	OMIM	74	83
HP:0100543	HP:0000726	Dementia	2	EPM2A	7957	254780	Lafora disease	C0751783	OMIM	74	83
HP:0100543	HP:0000726	Dementia	2	ERCC8	1161	216400	Cockayne syndrome type A	C0751039	OMIM	41	55
HP:0100543	HP:0000726	Dementia	2	FMR1	2332	300623	Fragile X tremor/ataxia syndrome	C1839780	OMIM	81	30
HP:0100543	HP:0000726	Dementia	2	FMR1	2332	93256	Fragile X-associated tremor/ataxia syndrome		ORPHA	81	30
HP:0100543	HP:0000726	Dementia	2	FTL	2512	606159	Neuroferritinopathy	C1853578	OMIM	61	33
HP:0100543	HP:0002333	Motor deterioration	2	GALC	2581	245200	Galactosylceramide beta-galactosidase deficiency	C0023521	OMIM	230	160
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	GBA	2629	230900	Acute neuronopathic Gaucher's disease	C0268250	OMIM	460	108
HP:0100543	HP:0000726	Dementia	2	GBA	2629	77261	Gaucher disease type 3		ORPHA	460	108
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	GBA	2629	608013	Gaucher disease, perinatal lethal	C1842704	OMIM	460	108
HP:0100543	HP:0000726	Dementia	2	GBA	2629	231000	Subacute neuronopathic Gaucher's disease	C0268251	OMIM	460	108
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	GBA	2629	231000	Subacute neuronopathic Gaucher's disease	C0268251	OMIM	460	108
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	GCH1	2643	233910	GTP cyclohydrolase I deficiency	C0268467	OMIM	229	86
HP:0100543	HP:0000726	Dementia	2	GM2A	2760	272750	Tay-Sachs disease, variant AB	C0268275	OMIM	9	69
HP:0100543	HP:0010534	Transient global amnesia	2	HCRT	3060	2073	Narcolepsy-cataplexy syndrome		ORPHA	2	1
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	HEPACAM	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	C3151355	OMIM	23	82
HP:0100543	HP:0000726	Dementia	2	HEXA	3073	272800	Tay-Sachs disease	C0039373	OMIM	182	152
HP:0100543	HP:0002361	Psychomotor deterioration	2	HEXA	3073	272800	Tay-Sachs disease	C0039373	OMIM	182	152
HP:0100543	HP:0002333	Motor deterioration	2	HGSNAT	138050	252930	Mucopolysaccharidosis, MPS-III-C	C0086649	OMIM	68	86
HP:0100543	HP:0010534	Transient global amnesia	2	HLA-DQB1	3119	2073	Narcolepsy-cataplexy syndrome		ORPHA	12
HP:0100543	HP:0010534	Transient global amnesia	2	HLA-DRB1	3123	2073	Narcolepsy-cataplexy syndrome		ORPHA	23	2
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	HNF1A	6927	324575	Hyperinsulinism due to HNF1A deficiency		ORPHA	519	161
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	HNF4A	3172	263455	Hyperinsulinism due to HNF4A deficiency		ORPHA	149	138
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	HSD17B10	3028	300438	2-methyl-3-hydroxybutyric aciduria	C1845517	OMIM	13	19
HP:0100543	HP:0000726	Dementia	2	HTRA1	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	C1838577	OMIM	33	34
HP:0100543	HP:0000726	Dementia	2	HTT	3064	399	46,XX testicular disorder of sex development	C2936420	ORPHA	8	12
HP:0100543	HP:0000726	Dementia	2	HTT	3064	143100	Huntington's chorea	C0020179	OMIM	8	12
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	IDUA	3425	607014	Hurler syndrome	C0086795	OMIM	249	115
HP:0100543	HP:0000726	Dementia	2	IRF6	3664	119500	Popliteal pterygium syndrome	C0265259	OMIM	337	99
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	ITM2B	9445	176500	Dementia familial British	C1867773	OMIM	3	3
HP:0100543	HP:0000726	Dementia	2	ITM2B	9445	176500	Dementia familial British	C1867773	OMIM	3	3
HP:0100543	HP:0000726	Dementia	2	ITM2B	9445	117300	Dementia, familial Danish	C1861735	OMIM	3	3
HP:0100543	HP:0000726	Dementia	2	JPH3	57338	606438	Huntington disease-like 2	C1847987	OMIM	1	2
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	KCNJ11	3767	276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		ORPHA	175	127
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	LMNB1	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	C1868512	OMIM	33	44
HP:0100543	HP:0000726	Dementia	2	MAPT	4137	260540	Parkinson-dementia syndrome	C1850076	OMIM	106	140
HP:0100543	HP:0000726	Dementia	2	MECP2	4204	312750	Rett syndrome	C0035372	OMIM	960	950
HP:0100543	HP:0002333	Motor deterioration	2	MECP2	4204	312750	Rett syndrome	C0035372	OMIM	960	950
HP:0100543	HP:0010534	Transient global amnesia	2	MEN1	4221	97279	Insulinoma		ORPHA	710	462
HP:0100543	HP:0000726	Dementia	2	MMACHC	25974	277400	Methylmalonic acidemia with homocystinuria	C1848561	OMIM	90	101
HP:0100543	HP:0010534	Transient global amnesia	2	MOG	4340	2073	Narcolepsy-cataplexy syndrome		ORPHA	2	1
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	NAGLU	4669	252920	Mucopolysaccharidosis, MPS-III-B	C0086648	OMIM	166	72
HP:0100543	HP:0000726	Dementia	2	ND1	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	ND5	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	ND6	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	NDP	4693	310600	Atrophia bulborum hereditaria	C0266526	OMIM	157	39
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	NHLRC1	378884	254780	Lafora disease	C0751783	OMIM	70	77
HP:0100543	HP:0000726	Dementia	2	NHLRC1	378884	254780	Lafora disease	C0751783	OMIM	70	77
HP:0100543	HP:0000726	Dementia	2	NOTCH3	4854	136	Dextrocardia with unusual facies and microphthalmia	C1857298	ORPHA	327	144
HP:0100543	HP:0000726	Dementia	2	NPC1	4864	257220	Niemann-Pick disease type C1	C3179455	OMIM	445	258
HP:0100543	HP:0000726	Dementia	2	NPC2	10577	607625	Niemann-Pick disease type C2	C1843366	OMIM	27	33
HP:0100543	HP:0000726	Dementia	2	NR4A2	4929	168600	Parkinson disease, late-onset	C3160718	OMIM	18	27
HP:0100543	HP:0010534	Transient global amnesia	2	P2RY11	5032	2073	Narcolepsy-cataplexy syndrome		ORPHA	3	2
HP:0100543	HP:0000726	Dementia	2	PANK2	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	C1846582	OMIM	153	55
HP:0100543	HP:0000726	Dementia	2	PANK2	80025	234200	Pigmentary pallidal degeneration	C0018523	OMIM	153	55
HP:0100543	HP:0000726	Dementia	2	PDGFB	5155	615483	Idiopathic basal ganglia calcification 5	C3809645	OMIM	17	9
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	PDGFRB	5159	616592	Kosaki overgrowth syndrome	C4225270	OMIM	11	28
HP:0100543	HP:0000726	Dementia	2	PINK1	65018	605909	Parkinson disease 6, autosomal recessive early-onset	C1853833	OMIM	136	55
HP:0100543	HP:0002361	Psychomotor deterioration	2	PLP1	5354	312080	Pelizaeus-Merzbacher disease	C0205711	OMIM	316	60
HP:0100543	HP:0000726	Dementia	2	POLG	5428	203700	Progressive sclerosing poliodystrophy	C0205710	OMIM	277	464
HP:0100543	HP:0000726	Dementia	2	PPP2R2B	5521	604326	Spinocerebellar ataxia 12	C1858501	OMIM	6	5
HP:0100543	HP:0002361	Psychomotor deterioration	2	PPT1	5538	256730	Ceroid lipofuscinosis neuronal 1	C1850451	OMIM	77	172
HP:0100543	HP:0002549	Deficit in phonologic short-term memory	2	PRNP	5621	280397	Familial Alzheimer-like prion disease		ORPHA	102	69
HP:0100543	HP:0000726	Dementia	2	PRNP	5621	600072	Fatal familial insomnia	C0206042	OMIM	102	69
HP:0100543	HP:0000726	Dementia	2	PRNP	5621	137440	Gerstmann-Straussler-Scheinker syndrome	C0017495	OMIM	102	69
HP:0100543	HP:0000726	Dementia	2	PRNP	5621	603218	Huntington disease-like 1	C1864112	OMIM	102	69
HP:0100543	HP:0000726	Dementia	2	PRNP	5621	123400	Jakob-Creutzfeldt disease	C0022336	OMIM	102	69
HP:0100543	HP:0000726	Dementia	2	PRNP	5621	606688	Spongiform encephalopathy with neuropsychiatric features	C1847650	OMIM	102	69
HP:0100543	HP:0000726	Dementia	2	PSEN1	5663	607822	Alzheimer disease, type 3	C1843013	OMIM	297	241
HP:0100543	HP:0000726	Dementia	2	PSEN2	5664	606889	Alzheimer disease, type 4	C1847200	OMIM	54	59
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	PTS	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	C0878676	OMIM	88	19
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	QDPR	5860	261630	Dihydropteridine reductase deficiency	C0268465	OMIM	61	43
HP:0100543	HP:0002333	Motor deterioration	2	RBM28	55131	612079	Alopecia, neurologic defects, and endocrinopathy syndrome	C2677535	OMIM	1	1
HP:0100543	HP:0000726	Dementia	2	RNF216	54476	212840	Gordon Holmes syndrome	C1859305	OMIM	12	10
HP:0100543	HP:0000726	Dementia	2	ROGDI	79641	1946	Amelo-cerebro-hypohidrotic syndrome		ORPHA	10	57
HP:0100543	HP:0000726	Dementia	2	ROGDI	79641	226750	Kohlschutter's syndrome	C0406740	OMIM	10	57
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	RRM2B	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	C2749861	OMIM	41	125
HP:0100543	HP:0000726	Dementia	2	SERPINI1	5274	604218	Encephalopathy, familial, with neuroserpin inclusion bodies	C1858680	OMIM	7	28
HP:0100543	HP:0000726	Dementia	2	SLC2A3	6515	399	46,XX testicular disorder of sex development	C2936420	ORPHA	3	1
HP:0100543	HP:0000726	Dementia	2	SNCA	6622	127750	Lewy body dementia	C0752347	OMIM	37	65
HP:0100543	HP:0000726	Dementia	2	SNCA	6622	605543	Parkinson disease 4	C1854182	OMIM	37	65
HP:0100543	HP:0000726	Dementia	2	SNCAIP	9627	168600	Parkinson disease, late-onset	C3160718	OMIM	5	35
HP:0100543	HP:0000726	Dementia	2	SNCB	6620	127750	Lewy body dementia	C0752347	OMIM	2	2
HP:0100543	HP:0000726	Dementia	2	SPAST	6683	182601	Spastic paraplegia 4, autosomal dominant	C1866855	OMIM	659	208
HP:0100543	HP:0000726	Dementia	2	SPG21	51324	248900	Mast syndrome	C1855346	OMIM	2	28
HP:0100543	HP:0000726	Dementia	2	TBX18	9096	143100	Huntington's chorea	C0020179	OMIM	8	5
HP:0100543	HP:0000726	Dementia	2	TIMM8A	1678	311150	Jensen syndrome	C1839564	OMIM	21	15
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	TINF2	26277	268130	Revesz syndrome	C1327916	OMIM	34	60
HP:0100543	HP:0010534	Transient global amnesia	2	TNFSF4	7292	2073	Narcolepsy-cataplexy syndrome		ORPHA	7
HP:0100543	HP:0000726	Dementia	2	TREX1	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	C1860518	OMIM	65	56
HP:0100543	HP:0007017	Progressive forgetfulness	2	TREX1	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	C1860518	OMIM	65	56
HP:0100543	HP:0000726	Dementia	2	TRNC	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNF	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNK	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNL1	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNQ	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNS1	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNS2	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNV	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TRNW	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	C0162671	OMIM
HP:0100543	HP:0000726	Dementia	2	TTR	7276	105210	Amyloidogenic transthyretin amyloidosis	C2751492	OMIM	140	107
HP:0100543	HP:0000726	Dementia	2	TWNK	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	C1836439	OMIM	74	113
HP:0100543	HP:0002344	Progressive neurologic deterioration	2	UCP2	7351	276556	Hyperinsulinism due to UCP2 deficiency		ORPHA	10	15
HP:0100543	HP:0000726	Dementia	2	WDR45	11152	300894	Neurodegeneration with brain iron accumulation 5	C3550973	OMIM	59	51
HP:0100543	HP:0000726	Dementia	2	WFS1	7466	411590	Wolfram-like syndrome		ORPHA	353	389
HP:0100543	HP:0000726	Dementia	2	XPR1	9213	616413	Basal ganglia calcification, idiopathic, 6	C4225335	OMIM	5	4
HP:0100543	HP:0010534	Transient global amnesia	2	ZNF365	22891	2073	Narcolepsy-cataplexy syndrome		ORPHA	2	3
HP:0100543	HP:0002145	Frontotemporal dementia	3	C9ORF72	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	C1862937	OMIM	22	56
HP:0100543	HP:0002145	Frontotemporal dementia	3	C9ORF72	203228	275864	Behavioral variant of frontotemporal dementia		ORPHA	22	56
HP:0100543	HP:0002145	Frontotemporal dementia	3	C9ORF72	203228	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	22	56
HP:0100543	HP:0000727	Frontal lobe dementia	3	CHCHD10	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	C4014648	OMIM	18	11
HP:0100543	HP:0002145	Frontotemporal dementia	3	CHCHD10	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	C4014648	OMIM	18	11
HP:0100543	HP:0002145	Frontotemporal dementia	3	CHMP2B	25978	275864	Behavioral variant of frontotemporal dementia		ORPHA	21	42
HP:0100543	HP:0002145	Frontotemporal dementia	3	CHMP2B	25978	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	21	42
HP:0100543	HP:0002145	Frontotemporal dementia	3	CHMP2B	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	C1833296	OMIM	21	42
HP:0100543	HP:0007064	Progressive language deterioration	3	CNTNAP2	26047	610042	Cortical dysplasia-focal epilepsy syndrome	C1864887	OMIM	72	518
HP:0100543	HP:0000727	Frontal lobe dementia	3	CSF1R	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	C1857300	OMIM	77	149
HP:0100543	HP:0007272	Progressive psychomotor deterioration	3	GLB1	2720	230600	GM1 gangliosidosis type 2	C0268272	OMIM	213	120
HP:0100543	HP:0002145	Frontotemporal dementia	3	GRN	2896	275864	Behavioral variant of frontotemporal dementia		ORPHA	170	126
HP:0100543	HP:0002145	Frontotemporal dementia	3	GRN	2896	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	170	126
HP:0100543	HP:0002145	Frontotemporal dementia	3	GRN	2896	607485	Frontotemporal dementia, ubiquitin-positive	C1843792	OMIM	170	126
HP:0100543	HP:0007064	Progressive language deterioration	3	GRN	2896	607485	Frontotemporal dementia, ubiquitin-positive	C1843792	OMIM	170	126
HP:0100543	HP:0007272	Progressive psychomotor deterioration	3	HEXB	3074	268800	Sandhoff disease	C0036161	OMIM	108	80
HP:0100543	HP:0002145	Frontotemporal dementia	3	HNRNPA2B1	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	C3809468	OMIM	5	5
HP:0100543	HP:0002145	Frontotemporal dementia	3	MAPT	4137	275864	Behavioral variant of frontotemporal dementia		ORPHA	106	140
HP:0100543	HP:0002145	Frontotemporal dementia	3	MAPT	4137	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	106	140
HP:0100543	HP:0000727	Frontal lobe dementia	3	MAPT	4137	600274	Frontotemporal dementia	C0338451	OMIM	106	140
HP:0100543	HP:0002145	Frontotemporal dementia	3	MAPT	4137	600274	Frontotemporal dementia	C0338451	OMIM	106	140
HP:0100543	HP:0002145	Frontotemporal dementia	3	MAPT	4137	172700	Pick's disease	C0236642	OMIM	106	140
HP:0100543	HP:0002439	Frontolimbic dementia	3	MAPT	4137	601104	Progressive supranuclear ophthalmoplegia	C0038868	OMIM	106	140
HP:0100543	HP:0007123	Subcortical dementia	3	NOTCH3	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	C1272305	OMIM	327	144
HP:0100543	HP:0002145	Frontotemporal dementia	3	PSEN1	5663	275864	Behavioral variant of frontotemporal dementia		ORPHA	297	241
HP:0100543	HP:0002145	Frontotemporal dementia	3	PSEN1	5663	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	297	241
HP:0100543	HP:0000727	Frontal lobe dementia	3	PSEN1	5663	600274	Frontotemporal dementia	C0338451	OMIM	297	241
HP:0100543	HP:0002145	Frontotemporal dementia	3	PSEN1	5663	600274	Frontotemporal dementia	C0338451	OMIM	297	241
HP:0100543	HP:0002145	Frontotemporal dementia	3	PSEN1	5663	172700	Pick's disease	C0236642	OMIM	297	241
HP:0100543	HP:0002145	Frontotemporal dementia	3	SQSTM1	8878	275864	Behavioral variant of frontotemporal dementia		ORPHA	88	62
HP:0100543	HP:0002145	Frontotemporal dementia	3	SQSTM1	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	C4225326	OMIM	88	62
HP:0100543	HP:0007307	Rapid neurologic deterioration	3	SUMF1	285362	585	Al Gazali Hirschsprung syndrome	C1856110	ORPHA	51	80
HP:0100543	HP:0007307	Rapid neurologic deterioration	3	SUMF1	285362	272200	Multiple sulfatase deficiency	C0268263	OMIM	51	80
HP:0100543	HP:0002145	Frontotemporal dementia	3	TBK1	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	C4225325	OMIM	110	20
HP:0100543	HP:0000727	Frontal lobe dementia	3	TBP	6908	607136	Spinocerebellar ataxia 17	C1846707	OMIM	17	7
HP:0100543	HP:0002145	Frontotemporal dementia	3	TREM2	54209	275864	Behavioral variant of frontotemporal dementia		ORPHA	43	31
HP:0100543	HP:0002145	Frontotemporal dementia	3	TREM2	54209	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	43	31
HP:0100543	HP:0000727	Frontal lobe dementia	3	TREM2	54209	2770	Nasu-Hakola disease		ORPHA	43	31
HP:0100543	HP:0000727	Frontal lobe dementia	3	TREM2	54209	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	C1857316	OMIM	43	31
HP:0100543	HP:0000727	Frontal lobe dementia	3	TYROBP	7305	2770	Nasu-Hakola disease		ORPHA	14	22
HP:0100543	HP:0000727	Frontal lobe dementia	3	TYROBP	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	C1857316	OMIM	14	22
HP:0100543	HP:0002145	Frontotemporal dementia	3	UBQLN2	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	C3275459	OMIM	23	20
HP:0100543	HP:0002145	Frontotemporal dementia	3	VCP	7415	275864	Behavioral variant of frontotemporal dementia		ORPHA	52	63
HP:0100543	HP:0002145	Frontotemporal dementia	3	VCP	7415	100070	Familial abdominal aortic aneurysm 1	C0162871	ORPHA	52	63
HP:0100543	HP:0002145	Frontotemporal dementia	3	VCP	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	C1833662	OMIM	52	63
HP:0100543	HP:0030219	Semantic dementia	4

Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (304) :AARS2 AASS ABCC8 ABCD1 ACTB ADA2 ADAMTSL4 AKT1 ALG12 ALG2 ALG9 AMN APOE APP APTX ARSA ASAH1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP7B ATR ATRIP ATXN1 ATXN10 ATXN2 ATXN3 AUH B3GALNT2 BBIP1 BBS10 BBS12 BBS5 BSCL2 C19ORF12 C9ORF72 CCDC78 CENPE CENPJ CEP152 CERS1 CHCHD10 CHD2 CHL1 CHMP2B CLCF1 CLMP CLN3 CLN5 CLN6 CLN8 CNTN4 CNTNAP2 COASY COL3A1 COL5A1 COX1 COX2 COX3 CP CRBN CRLF1 CSF1R CST3 CSTB CTC1 CTDP1 CTNS CTSD CTSF CTSH CUBN CYP27A1 CYTB DCAF17 DDB2 DISC2 DNM1 DNMT1 DOLK DSTYK ECM1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EPM2A ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF FA2H FAS FBN1 FGD1 FGF14 FGFR3 FKRP FKTN FLNA FMR1 FTL GABRB3 GALC GBA GBE1 GCH1 GDF5 GJB2 GJC2 GLA GLB1 GM2A GMPPB GNAS GRID2 GRN HCRT HEPACAM HEXA HEXB HGSNAT HLA-DQB1 HLA-DRB1 HNF1A HNF4A HNRNPA2B1 HSD17B10 HTRA1 HTT IDUA INSR IRF6 ITGA7 ITM2B JPH3 KATNB1 KCNJ11 KCNT1 KLLN LAMP2 LARGE1 LMNB1 LZTFL1 MAOA MAPK10 MAPT MARS2 MECP2 MEN1 MFSD8 MMACHC MOG MPDU1 MTFMT MTO1 NAGA NAGLU NAGS NBN ND1 ND4 ND5 ND6 NDP NHLRC1 NOTCH3 NPC1 NPC2 NPHP1 NR4A2 NRAS OCRL OPA3 P2RY11 PAH PANK2 PCNT PDE11A PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM3 PIK3CA PINK1 PLA2G6 PLK4 PLP1 POLG POMGNT1 POMK POMT1 POMT2 PORCN PPP2R2B PPT1 PRICKLE2 PRKAR1A PRKCG PRNP PSAP PSEN1 PSEN2 PTEN PTPN22 PTS QDPR RBBP8 RBM28 RIN2 RNF216 RNR1 ROBO3 ROGDI RRM2B SCN1A SCN8A SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SERPINI1 SIM1 SLC18A2 SLC20A2 SLC2A3 SLC6A1 SMC1A SNCA SNCAIP SNCB SNORD118 SOST SPAST SPG11 SPG21 SPG7 SQSTM1 SUMF1 TBC1D24 TBK1 TBL1XR1 TBP TBX18 TIMM8A TINF2 TMEM240 TNFSF4 TRAIP TREM2 TREX1 TRNC TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSFM TTC19 TTC37 TTC8 TTR TWNK TYROBP UBA1 UBQLN2 UCP2 VAMP1 VCP VPS13A WDR45 WDR73 WFS1 XPA XPC XPR1 XRCC4 ZNF365

Diseases (264) :238700 1885 201 79324 79326 79328 208920 808 164400 250950 588 615995 615987 615989 615983 614807 1620 1545 2301 286 604168 910 91131 270750 616390 2343 3437 915 93274 263570 968 494 608804 324 103580 612462 612463 616204 508 613204 616212 615005 300257 615994 3057 611390 79323 614947 614702 609242 237310 551 609583 300555 258501 912 615816 607459 616094 2092 217335 2744 614306 615993 252011 352649 300590 269500 270710 607454 607341 610505 615157 222470 615985 1145 2065 616541 79107 820 182410 324708 250100 104290 614820 615924 275864 100070 2382 1942 600795 610003 1947 615643 550 221820 254800 612199 610127 3464 604121 614116 247100 603896 278730 278800 612319 609307 300623 93256 219080 607485 601104 610951 647 136 249400 79254 610475 213600 610217 612953 613832 610489 605361 137440 123400 249900 607822 607208 369873 168601 614561 182601 2822 604360 607259 352582 304700 2770 221770 247691 1349 108600 2388 278700 616413 615889 276575 300100 261100 104310 606889 100006 324713 324703 104300 605714 159950 2590 606693 551500 277900 603516 183090 109150 614298 616230 204200 256731 204300 601780 540000 48818 604290 105150 219800 615362 2073 213700 181500 254780 216400 606159 245200 230900 77261 608013 231000 233910 272750 613925 272800 252930 324575 263455 300438 600142 399 143100 607014 119500 176500 117300 606438 276580 169500 260540 312750 97279 277400 252920 310600 257220 607625 168600 607236 234200 615483 616592 605909 312080 203700 604326 256730 280397 600072 603218 606688 261640 261630 612079 212840 1946 226750 612075 604218 127750 605543 248900 311150 268130 192315 105210 609286 276556 300894 411590 105550 615911 610042 230600 268800 615422 600274 172700 125310 616437 585 272200 616439 607136 300857 167320

Child Nodes:

........

Mental deterioration (HP:0001268)

................... HP:0000726 Dementia
................... HP:0002333 Motor deterioration
................... HP:0002344 Progressive neurologic deterioration
................... HP:0002361 Psychomotor deterioration
................... HP:0007086 Social and occupational deterioration

........

Memory impairment (HP:0002354)

................... HP:0002549 Deficit in phonologic short-term memory
................... HP:0007017 Progressive forgetfulness
................... HP:0010534 Transient global amnesia

Sister Nodes:

Agnosia (HP:0010524)

Apraxia (HP:0002186)

Language impairment (HP:0002463)

Neurological speech impairment (HP:0002167)

Reduced consciousness/confusion (HP:0004372)

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.

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