Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001289	HP:0001289	Confusion	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0001289	HP:0001289	Confusion	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001289	HP:0001289	Confusion	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0001289	HP:0001289	Confusion	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001289	HP:0001289	Confusion	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0001289	HP:0001289	Confusion	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0001289	HP:0001289	Confusion	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0001289	HP:0001289	Confusion	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0001289	HP:0001289	Confusion	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0001289	HP:0001289	Confusion	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001289	HP:0001289	Confusion	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0001289	HP:0001289	Confusion	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0001289	HP:0001289	Confusion	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001289	HP:0001289	Confusion	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0001289	HP:0001289	Confusion	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0001289	HP:0001289	Confusion	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0001289	HP:0001289	Confusion	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0001289	HP:0001289	Confusion	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0001289	HP:0001289	Confusion	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0001289	HP:0001289	Confusion	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.	273
HP:0001289	HP:0001289	Confusion	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0001289	HP:0001289	Confusion	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0001289	HP:0001289	Confusion	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001289	HP:0001289	Confusion	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0001289	HP:0001289	Confusion	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0001289	HP:0001289	Confusion	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0001289	HP:0001289	Confusion	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0001289	HP:0001289	Confusion	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0001289	HP:0001289	Confusion	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0001289	HP:0001289	Confusion	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital		111
HP:0001289	HP:0001289	Confusion	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0001289	HP:0001289	Confusion	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0001289	HP:0001289	Confusion	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0001289	HP:0001289	Confusion	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0001289	HP:0001289	Confusion	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0001289	HP:0001289	Confusion	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0001289	HP:0001289	Confusion	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0001289	HP:0001289	Confusion	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001289	HP:0001289	Confusion	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001289	HP:0001289	Confusion	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001289	HP:0001289	Confusion	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001289	HP:0001289	Confusion	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001289	HP:0001289	Confusion	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0001289	HP:0001289	Confusion	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001289	HP:0001289	Confusion	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0001289	HP:0001289	Confusion	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0001289	HP:0001289	Confusion	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001289	HP:0001289	Confusion	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001289	HP:0001289	Confusion	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0001289	HP:0001289	Confusion	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0001289	HP:0001289	Confusion	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0001289	HP:0001289	Confusion	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0001289	HP:0001289	Confusion	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001289	HP:0001289	Confusion	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional	1
HP:0001289	HP:0001289	Confusion	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001289	HP:0001289	Confusion	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0001289	HP:0001289	Confusion	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0001289	HP:0001289	Confusion	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0001289	HP:0001289	Confusion	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0001289	HP:0001289	Confusion	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0001289	HP:0001289	Confusion	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0001289	HP:0001289	Confusion	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0001289	HP:0001289	Confusion	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0001289	HP:0001289	Confusion	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0001289	HP:0001289	Confusion	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0001289	HP:0001289	Confusion	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0001289	HP:0001289	Confusion	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0001289	HP:0001289	Confusion	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0001289	HP:0001289	Confusion	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0001289	HP:0001289	Confusion	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0001289	HP:0001289	Confusion	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0001289	HP:0001289	Confusion	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0001289	HP:0001289	Confusion	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0001289	HP:0001289	Confusion	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001289	HP:0001289	Confusion	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0001289	HP:0001289	Confusion	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0001289	HP:0001289	Confusion	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0001289	HP:0001289	Confusion	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0001289	HP:0001289	Confusion	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0001289	HP:0001289	Confusion	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0001289	HP:0001289	Confusion	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001289	HP:0001289	Confusion	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001289	HP:0031258	Delirium	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001289	HP:0031258	Delirium	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0001289	HP:0031258	Delirium	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional	111
HP:0001289	HP:0031258	Delirium	1	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0001289	HP:0031258	Delirium	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0001289	HP:0031258	Delirium	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001289	HP:0031258	Delirium	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0001289	HP:0031258	Delirium	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001289	HP:0031258	Delirium	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0001289	HP:0031258	Delirium	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0001289	HP:0031258	Delirium	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare