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:0004372	HP:0004372	Reduced consciousness/confusion	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive		245
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency		111
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1		49
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease		120
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease		162
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy		449
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	272
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease		156
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant		145
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		106
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		54
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		158
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex		83
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency		64
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital		111
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency		237
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	16
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency		100
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2		15
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HCRT CL E G H	3060	4847	ORPHA:83465	Narcolepsy type 2		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	4
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:83465	Narcolepsy type 2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:83465	Narcolepsy type 2		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency		148
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	31
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency		229
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4		7
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome		148
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome		730
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria		5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD		50
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		36
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6		65
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9		21
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3		38
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		241
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		59
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency		19
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy		57
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy		11
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome		55
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		110
HP:0004372	HP:0004372	Reduced consciousness/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:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency		207
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy		166
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome		255
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040282 - Frequent	87
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body		65
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia		271
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	20
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		80
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	6
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		31
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)		113
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent	5
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZNF365 CL E G H	22891	18194	ORPHA:83465	Narcolepsy type 2		3
HP:0004372	HP:0004372	Reduced consciousness/confusion	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0004372	HP:0007200	Episodic hypersomnia	1	CL E G H
HP:0004372	HP:0031358	Vegetative state	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0004372	HP:0001254	Lethargy	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0004372	HP:0001289	Confusion	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0004372	HP:0002329	Drowsiness	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0004372	HP:0001259	Coma	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0004372	HP:0007185	Loss of consciousness	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0004372	HP:0001254	Lethargy	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0004372	HP:0001259	Coma	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0004372	HP:0001259	Coma	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0004372	HP:0002329	Drowsiness	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0004372	HP:0001259	Coma	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	245
HP:0004372	HP:0001289	Confusion	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0004372	HP:0031358	Vegetative state	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040284 - Very rare	135
HP:0004372	HP:0001254	Lethargy	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0004372	HP:0001259	Coma	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0004372	HP:0001254	Lethargy	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0004372	HP:0001254	Lethargy	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0004372	HP:0007185	Loss of consciousness	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0004372	HP:0001259	Coma	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0004372	HP:0001254	Lethargy	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0004372	HP:0001254	Lethargy	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	90
HP:0004372	HP:0001254	Lethargy	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0004372	HP:0001254	Lethargy	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0004372	HP:0001254	Lethargy	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0004372	HP:0001259	Coma	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0004372	HP:0001262	Excessive daytime somnolence	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0004372	HP:0001254	Lethargy	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0004372	HP:0001289	Confusion	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0004372	HP:0007185	Loss of consciousness	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0004372	HP:0002329	Drowsiness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0004372	HP:0002329	Drowsiness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0004372	HP:0001259	Coma	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0004372	HP:0007159	Fluctuations in consciousness	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0004372	HP:0001289	Confusion	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0004372	HP:0001289	Confusion	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0004372	HP:0001259	Coma	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0004372	HP:0001254	Lethargy	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0004372	HP:0001259	Coma	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040284 - Very rare	73
HP:0004372	HP:0001254	Lethargy	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040284 - Very rare	73
HP:0004372	HP:0001254	Lethargy	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0004372	HP:0001259	Coma	1	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040282 - Frequent	74
HP:0004372	HP:0001259	Coma	1	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent	74
HP:0004372	HP:0001289	Confusion	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0004372	HP:0031358	Vegetative state	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0004372	HP:0031358	Vegetative state	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040284 - Very rare	253
HP:0004372	HP:0031358	Vegetative state	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040284 - Very rare	253
HP:0004372	HP:0001262	Excessive daytime somnolence	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004372	HP:0001259	Coma	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0004372	HP:0001254	Lethargy	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0004372	HP:0001254	Lethargy	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0004372	HP:0001259	Coma	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0004372	HP:0001254	Lethargy	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0004372	HP:0001254	Lethargy	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0004372	HP:0001289	Confusion	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0004372	HP:0001259	Coma	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0004372	HP:0032044	Decreased vigilance	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0004372	HP:0001289	Confusion	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0004372	HP:0002329	Drowsiness	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0004372	HP:0001259	Coma	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0004372	HP:0001289	Confusion	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0004372	HP:0001254	Lethargy	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0004372	HP:0001254	Lethargy	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0004372	HP:0001259	Coma	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0004372	HP:0001259	Coma	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional	49
HP:0004372	HP:0001254	Lethargy	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent	22
HP:0004372	HP:0001262	Excessive daytime somnolence	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0004372	HP:0001254	Lethargy	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0004372	HP:0001259	Coma	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0004372	HP:0001259	Coma	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0004372	HP:0001254	Lethargy	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0004372	HP:0001254	Lethargy	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0004372	HP:0001254	Lethargy	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0004372	HP:0001254	Lethargy	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0004372	HP:0001259	Coma	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	276
HP:0004372	HP:0001262	Excessive daytime somnolence	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0004372	HP:0001254	Lethargy	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0004372	HP:0001254	Lethargy	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0004372	HP:0001289	Confusion	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0004372	HP:0002329	Drowsiness	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent	449
HP:0004372	HP:0032044	Decreased vigilance	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0004372	HP:0001289	Confusion	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0004372	HP:0001259	Coma	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0004372	HP:0001289	Confusion	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0004372	HP:0001259	Coma	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0004372	HP:0002329	Drowsiness	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0004372	HP:0001289	Confusion	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004372	HP:0001289	Confusion	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0004372	HP:0001254	Lethargy	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0004372	HP:0032044	Decreased vigilance	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0004372	HP:0001259	Coma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0004372	HP:0032044	Decreased vigilance	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0004372	HP:0001259	Coma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0004372	HP:0001254	Lethargy	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0004372	HP:0001289	Confusion	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0004372	HP:0001254	Lethargy	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0004372	HP:0001259	Coma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0004372	HP:0032044	Decreased vigilance	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0004372	HP:0001289	Confusion	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0004372	HP:0001259	Coma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0004372	HP:0001289	Confusion	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0004372	HP:0001254	Lethargy	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0004372	HP:0032044	Decreased vigilance	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0004372	HP:0001254	Lethargy	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0004372	HP:0001254	Lethargy	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0004372	HP:0001254	Lethargy	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0004372	HP:0001254	Lethargy	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0004372	HP:0001259	Coma	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0004372	HP:0001259	Coma	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0004372	HP:0001259	Coma	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0004372	HP:0002329	Drowsiness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0004372	HP:0001289	Confusion	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0004372	HP:0002329	Drowsiness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0004372	HP:0002329	Drowsiness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0004372	HP:0002329	Drowsiness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0004372	HP:0001262	Excessive daytime somnolence	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0004372	HP:0001262	Excessive daytime somnolence	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0004372	HP:0002329	Drowsiness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0004372	HP:0007159	Fluctuations in consciousness	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0004372	HP:0001289	Confusion	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0004372	HP:0001254	Lethargy	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0004372	HP:0001259	Coma	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0004372	HP:0007185	Loss of consciousness	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0004372	HP:0001259	Coma	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0004372	HP:0001254	Lethargy	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0004372	HP:0001254	Lethargy	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0004372	HP:0001259	Coma	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0004372	HP:0001259	Coma	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0004372	HP:0001254	Lethargy	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0004372	HP:0001254	Lethargy	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0004372	HP:0001259	Coma	1	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.	101
HP:0004372	HP:0001262	Excessive daytime somnolence	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0004372	HP:0001259	Coma	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	88
HP:0004372	HP:0001262	Excessive daytime somnolence	1	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0004372	HP:0001289	Confusion	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.	273
HP:0004372	HP:0001259	Coma	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0004372	HP:0001254	Lethargy	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0004372	HP:0001254	Lethargy	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0004372	HP:0002329	Drowsiness	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0004372	HP:0007185	Loss of consciousness	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0004372	HP:0001254	Lethargy	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0004372	HP:0001259	Coma	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0004372	HP:0001254	Lethargy	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0004372	HP:0001254	Lethargy	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0004372	HP:0001254	Lethargy	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0004372	HP:0001254	Lethargy	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0004372	HP:0001254	Lethargy	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0004372	HP:0001254	Lethargy	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.	89
HP:0004372	HP:0001254	Lethargy	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0004372	HP:0001254	Lethargy	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0004372	HP:0001254	Lethargy	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0004372	HP:0001289	Confusion	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0004372	HP:0002329	Drowsiness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0004372	HP:0001254	Lethargy	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0004372	HP:0001262	Excessive daytime somnolence	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0004372	HP:0001254	Lethargy	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0004372	HP:0001254	Lethargy	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0004372	HP:0001254	Lethargy	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0004372	HP:0001254	Lethargy	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0004372	HP:0001254	Lethargy	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0004372	HP:0001254	Lethargy	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0004372	HP:0001254	Lethargy	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0004372	HP:0001254	Lethargy	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0004372	HP:0001254	Lethargy	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0004372	HP:0031358	Vegetative state	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0004372	HP:0001289	Confusion	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0004372	HP:0001289	Confusion	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004372	HP:0001289	Confusion	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0004372	HP:0001289	Confusion	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0004372	HP:0001289	Confusion	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0004372	HP:0001289	Confusion	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0004372	HP:0001259	Coma	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0004372	HP:0001259	Coma	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0004372	HP:0001259	Coma	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0004372	HP:0001289	Confusion	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0004372	HP:0002329	Drowsiness	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0004372	HP:0001259	Coma	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0004372	HP:0001254	Lethargy	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0004372	HP:0001262	Excessive daytime somnolence	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0004372	HP:0001259	Coma	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.	64
HP:0004372	HP:0001254	Lethargy	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0004372	HP:0001254	Lethargy	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0004372	HP:0001254	Lethargy	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0004372	HP:0001254	Lethargy	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0004372	HP:0001254	Lethargy	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0004372	HP:0001254	Lethargy	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0004372	HP:0001289	Confusion	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0004372	HP:0001289	Confusion	1	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital		111
HP:0004372	HP:0001262	Excessive daytime somnolence	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0004372	HP:0001262	Excessive daytime somnolence	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0004372	HP:0001254	Lethargy	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0004372	HP:0001254	Lethargy	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0004372	HP:0001254	Lethargy	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0004372	HP:0001254	Lethargy	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0004372	HP:0001254	Lethargy	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0004372	HP:0001254	Lethargy	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.	44
HP:0004372	HP:0001254	Lethargy	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0004372	HP:0001254	Lethargy	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0004372	HP:0001254	Lethargy	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0004372	HP:0001254	Lethargy	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0004372	HP:0001254	Lethargy	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0004372	HP:0001254	Lethargy	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0004372	HP:0007159	Fluctuations in consciousness	1	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0004372	HP:0007185	Loss of consciousness	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0004372	HP:0001254	Lethargy	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0004372	HP:0001259	Coma	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0004372	HP:0001259	Coma	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040283 - Occasional	237
HP:0004372	HP:0001259	Coma	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	237
HP:0004372	HP:0001254	Lethargy	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0004372	HP:0002329	Drowsiness	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0004372	HP:0001262	Excessive daytime somnolence	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional	107
HP:0004372	HP:0001254	Lethargy	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0004372	HP:0001259	Coma	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0004372	HP:0007185	Loss of consciousness	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0004372	HP:0001254	Lethargy	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0004372	HP:0001254	Lethargy	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0004372	HP:0001254	Lethargy	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0004372	HP:0001254	Lethargy	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0004372	HP:0001254	Lethargy	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0004372	HP:0001259	Coma	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0004372	HP:0007185	Loss of consciousness	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0004372	HP:0001289	Confusion	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0004372	HP:0001289	Confusion	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0004372	HP:0001254	Lethargy	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0004372	HP:0001254	Lethargy	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional	100
HP:0004372	HP:0001259	Coma	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0004372	HP:0001254	Lethargy	1	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:0004372	HP:0001289	Confusion	1	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:0004372	HP:0001254	Lethargy	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0004372	HP:0001254	Lethargy	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0004372	HP:0001259	Coma	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0004372	HP:0001254	Lethargy	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0004372	HP:0001259	Coma	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0004372	HP:0001254	Lethargy	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0004372	HP:0001254	Lethargy	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent	15
HP:0004372	HP:0002329	Drowsiness	1	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.	1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HCRT CL E G H	3060	4847	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent	1
HP:0004372	HP:0001254	Lethargy	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0004372	HP:0001254	Lethargy	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0004372	HP:0001254	Lethargy	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0004372	HP:0001289	Confusion	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0004372	HP:0001289	Confusion	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent	2
HP:0004372	HP:0001254	Lethargy	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional	148
HP:0004372	HP:0001259	Coma	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0004372	HP:0001259	Coma	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional	148
HP:0004372	HP:0001254	Lethargy	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.	148
HP:0004372	HP:0001289	Confusion	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0004372	HP:0001259	Coma	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0004372	HP:0001254	Lethargy	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0004372	HP:0001259	Coma	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0004372	HP:0001259	Coma	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0004372	HP:0001254	Lethargy	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0004372	HP:0007185	Loss of consciousness	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0004372	HP:0001259	Coma	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0004372	HP:0002329	Drowsiness	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0004372	HP:0001259	Coma	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0004372	HP:0001254	Lethargy	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0004372	HP:0002329	Drowsiness	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0004372	HP:0001262	Excessive daytime somnolence	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0004372	HP:0001289	Confusion	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0004372	HP:0001289	Confusion	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0004372	HP:0001289	Confusion	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0004372	HP:0001289	Confusion	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0004372	HP:0001259	Coma	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0004372	HP:0001289	Confusion	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004372	HP:0001259	Coma	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	62
HP:0004372	HP:0001259	Coma	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0004372	HP:0001259	Coma	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040283 - Occasional	229
HP:0004372	HP:0001262	Excessive daytime somnolence	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0004372	HP:0031358	Vegetative state	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0004372	HP:0001259	Coma	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0004372	HP:0001254	Lethargy	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0004372	HP:0001254	Lethargy	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0004372	HP:0007185	Loss of consciousness	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	148
HP:0004372	HP:0002329	Drowsiness	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0004372	HP:0001254	Lethargy	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0004372	HP:0007185	Loss of consciousness	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0004372	HP:0001259	Coma	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0004372	HP:0001259	Coma	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	127
HP:0004372	HP:0007185	Loss of consciousness	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	730
HP:0004372	HP:0002329	Drowsiness	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0004372	HP:0001289	Confusion	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0004372	HP:0001259	Coma	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040283 - Occasional	5
HP:0004372	HP:0001262	Excessive daytime somnolence	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0004372	HP:0001254	Lethargy	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0004372	HP:0001254	Lethargy	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0004372	HP:0001254	Lethargy	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent	46
HP:0004372	HP:0001254	Lethargy	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0004372	HP:0002329	Drowsiness	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0004372	HP:0002329	Drowsiness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0004372	HP:0001259	Coma	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0004372	HP:0001254	Lethargy	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0004372	HP:0001254	Lethargy	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0004372	HP:0001289	Confusion	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0004372	HP:0002329	Drowsiness	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0004372	HP:0001289	Confusion	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0004372	HP:0002329	Drowsiness	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0004372	HP:0001259	Coma	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0004372	HP:0001259	Coma	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0004372	HP:0001254	Lethargy	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0004372	HP:0001259	Coma	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0004372	HP:0001254	Lethargy	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0004372	HP:0001259	Coma	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0004372	HP:0001289	Confusion	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0004372	HP:0001259	Coma	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0004372	HP:0007159	Fluctuations in consciousness	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0004372	HP:0001254	Lethargy	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0004372	HP:0001259	Coma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0004372	HP:0001254	Lethargy	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0004372	HP:0032044	Decreased vigilance	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0004372	HP:0001289	Confusion	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0004372	HP:0001259	Coma	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0004372	HP:0001254	Lethargy	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0004372	HP:0001259	Coma	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0004372	HP:0001254	Lethargy	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0004372	HP:0001289	Confusion	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004372	HP:0001254	Lethargy	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0004372	HP:0001289	Confusion	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004372	HP:0001254	Lethargy	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004372	HP:0001254	Lethargy	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent	50
HP:0004372	HP:0001254	Lethargy	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0004372	HP:0001259	Coma	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0004372	HP:0001254	Lethargy	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0004372	HP:0001259	Coma	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0004372	HP:0001259	Coma	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040281 - Very frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.	1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0004372	HP:0001259	Coma	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0004372	HP:0001254	Lethargy	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0004372	HP:0001254	Lethargy	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0004372	HP:0001254	Lethargy	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0004372	HP:0002329	Drowsiness	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0004372	HP:0007185	Loss of consciousness	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0004372	HP:0001254	Lethargy	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0004372	HP:0002329	Drowsiness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0004372	HP:0001262	Excessive daytime somnolence	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0004372	HP:0001262	Excessive daytime somnolence	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent	23
HP:0004372	HP:0007185	Loss of consciousness	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0004372	HP:0007185	Loss of consciousness	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004372	HP:0001254	Lethargy	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004372	HP:0002329	Drowsiness	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004372	HP:0001289	Confusion	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004372	HP:0001259	Coma	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0004372	HP:0001289	Confusion	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0004372	HP:0001259	Coma	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0004372	HP:0001254	Lethargy	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.	36
HP:0004372	HP:0001254	Lethargy	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0004372	HP:0001259	Coma	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0004372	HP:0001254	Lethargy	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0004372	HP:0001254	Lethargy	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0004372	HP:0001254	Lethargy	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0004372	HP:0001254	Lethargy	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0004372	HP:0001254	Lethargy	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0004372	HP:0001254	Lethargy	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0004372	HP:0001254	Lethargy	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0004372	HP:0001254	Lethargy	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0004372	HP:0007159	Fluctuations in consciousness	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0004372	HP:0001254	Lethargy	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0004372	HP:0001254	Lethargy	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0004372	HP:0001254	Lethargy	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0004372	HP:0001254	Lethargy	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0004372	HP:0007159	Fluctuations in consciousness	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0004372	HP:0001254	Lethargy	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0004372	HP:0001254	Lethargy	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0004372	HP:0001254	Lethargy	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0004372	HP:0007159	Fluctuations in consciousness	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0004372	HP:0001254	Lethargy	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0004372	HP:0001254	Lethargy	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0004372	HP:0001254	Lethargy	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0004372	HP:0001259	Coma	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0004372	HP:0001254	Lethargy	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0004372	HP:0001254	Lethargy	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0004372	HP:0001254	Lethargy	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.	21
HP:0004372	HP:0001254	Lethargy	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0004372	HP:0001254	Lethargy	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0004372	HP:0001254	Lethargy	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0004372	HP:0002329	Drowsiness	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0004372	HP:0001254	Lethargy	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0004372	HP:0001254	Lethargy	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0004372	HP:0001254	Lethargy	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0004372	HP:0001262	Excessive daytime somnolence	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0004372	HP:0001259	Coma	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0004372	HP:0001254	Lethargy	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0004372	HP:0001254	Lethargy	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0004372	HP:0001289	Confusion	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0004372	HP:0031358	Vegetative state	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0004372	HP:0001259	Coma	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0004372	HP:0001259	Coma	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0004372	HP:0001254	Lethargy	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0004372	HP:0001254	Lethargy	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0004372	HP:0001254	Lethargy	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0004372	HP:0001254	Lethargy	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0004372	HP:0007185	Loss of consciousness	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0004372	HP:0007185	Loss of consciousness	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0004372	HP:0001289	Confusion	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0004372	HP:0001254	Lethargy	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0004372	HP:0001262	Excessive daytime somnolence	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0004372	HP:0001259	Coma	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0004372	HP:0001262	Excessive daytime somnolence	1	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0004372	HP:0001254	Lethargy	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0004372	HP:0001254	Lethargy	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0004372	HP:0001254	Lethargy	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0004372	HP:0001259	Coma	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0004372	HP:0001254	Lethargy	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0004372	HP:0001259	Coma	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0004372	HP:0001254	Lethargy	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0004372	HP:0001262	Excessive daytime somnolence	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0004372	HP:0002329	Drowsiness	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0004372	HP:0001254	Lethargy	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0004372	HP:0001259	Coma	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	30
HP:0004372	HP:0031358	Vegetative state	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0004372	HP:0001254	Lethargy	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0004372	HP:0002329	Drowsiness	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0004372	HP:0001262	Excessive daytime somnolence	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0004372	HP:0031358	Vegetative state	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare	133
HP:0004372	HP:0001254	Lethargy	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0004372	HP:0032044	Decreased vigilance	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0004372	HP:0001259	Coma	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0004372	HP:0001254	Lethargy	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0004372	HP:0001254	Lethargy	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0004372	HP:0001289	Confusion	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0004372	HP:0001259	Coma	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0004372	HP:0001262	Excessive daytime somnolence	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0004372	HP:0001262	Excessive daytime somnolence	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0004372	HP:0001254	Lethargy	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0004372	HP:0001262	Excessive daytime somnolence	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0004372	HP:0001259	Coma	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare	41
HP:0004372	HP:0001289	Confusion	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040283 - Occasional	1
HP:0004372	HP:0001289	Confusion	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004372	HP:0001254	Lethargy	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004372	HP:0001259	Coma	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0004372	HP:0001259	Coma	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0004372	HP:0001289	Confusion	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0004372	HP:0001289	Confusion	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0004372	HP:0001254	Lethargy	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0004372	HP:0001262	Excessive daytime somnolence	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional	49
HP:0004372	HP:0001289	Confusion	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0004372	HP:0032044	Decreased vigilance	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0004372	HP:0001259	Coma	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0004372	HP:0031358	Vegetative state	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0004372	HP:0031358	Vegetative state	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0004372	HP:0031358	Vegetative state	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040284 - Very rare	81
HP:0004372	HP:0031358	Vegetative state	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040284 - Very rare	81
HP:0004372	HP:0001289	Confusion	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0004372	HP:0001289	Confusion	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0004372	HP:0001254	Lethargy	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0004372	HP:0001254	Lethargy	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0004372	HP:0001254	Lethargy	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0004372	HP:0001254	Lethargy	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0004372	HP:0002329	Drowsiness	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0004372	HP:0001262	Excessive daytime somnolence	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0004372	HP:0001259	Coma	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0004372	HP:0001259	Coma	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040281 - Very frequent	57
HP:0004372	HP:0001262	Excessive daytime somnolence	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0004372	HP:0002329	Drowsiness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0004372	HP:0001254	Lethargy	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0004372	HP:0001254	Lethargy	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0004372	HP:0007185	Loss of consciousness	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0004372	HP:0001254	Lethargy	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0004372	HP:0001254	Lethargy	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0004372	HP:0001254	Lethargy	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0004372	HP:0001254	Lethargy	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0004372	HP:0001254	Lethargy	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0004372	HP:0001254	Lethargy	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0004372	HP:0001254	Lethargy	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0004372	HP:0001254	Lethargy	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0004372	HP:0001254	Lethargy	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0004372	HP:0001254	Lethargy	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0004372	HP:0001254	Lethargy	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0004372	HP:0001289	Confusion	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0004372	HP:0001254	Lethargy	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0004372	HP:0001259	Coma	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0004372	HP:0032044	Decreased vigilance	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0004372	HP:0001289	Confusion	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0004372	HP:0002329	Drowsiness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0004372	HP:0001254	Lethargy	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0004372	HP:0007159	Fluctuations in consciousness	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0004372	HP:0001254	Lethargy	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0004372	HP:0001254	Lethargy	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0004372	HP:0001254	Lethargy	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0004372	HP:0001254	Lethargy	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0004372	HP:0031358	Vegetative state	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0004372	HP:0001254	Lethargy	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	11
HP:0004372	HP:0001254	Lethargy	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0004372	HP:0001254	Lethargy	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001254	Lethargy	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0004372	HP:0001254	Lethargy	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001254	Lethargy	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0004372	HP:0002329	Drowsiness	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.	2
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0004372	HP:0001254	Lethargy	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent	55
HP:0004372	HP:0001289	Confusion	1	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:0004372	HP:0002329	Drowsiness	1	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:0004372	HP:0007185	Loss of consciousness	1	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:0004372	HP:0001254	Lethargy	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0004372	HP:0001259	Coma	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0004372	HP:0001289	Confusion	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0004372	HP:0001254	Lethargy	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.	3
HP:0004372	HP:0001289	Confusion	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0004372	HP:0001254	Lethargy	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0004372	HP:0001259	Coma	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0004372	HP:0001289	Confusion	1	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0004372	HP:0002329	Drowsiness	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0004372	HP:0001289	Confusion	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0004372	HP:0001259	Coma	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0004372	HP:0001254	Lethargy	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0004372	HP:0007159	Fluctuations in consciousness	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0004372	HP:0001259	Coma	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0004372	HP:0001289	Confusion	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0004372	HP:0001254	Lethargy	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0004372	HP:0001289	Confusion	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0004372	HP:0001254	Lethargy	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0004372	HP:0001289	Confusion	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0004372	HP:0001259	Coma	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0004372	HP:0001259	Coma	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional	88
HP:0004372	HP:0001254	Lethargy	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.	36
HP:0004372	HP:0001259	Coma	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0004372	HP:0001254	Lethargy	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0004372	HP:0001259	Coma	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional	40
HP:0004372	HP:0001254	Lethargy	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0004372	HP:0001254	Lethargy	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	166
HP:0004372	HP:0001254	Lethargy	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0004372	HP:0001254	Lethargy	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0004372	HP:0001289	Confusion	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0004372	HP:0001289	Confusion	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0004372	HP:0001254	Lethargy	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0004372	HP:0001254	Lethargy	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0004372	HP:0001254	Lethargy	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0004372	HP:0001254	Lethargy	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0004372	HP:0001254	Lethargy	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0004372	HP:0001254	Lethargy	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0004372	HP:0001259	Coma	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0004372	HP:0001259	Coma	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0004372	HP:0001254	Lethargy	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0004372	HP:0001254	Lethargy	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0004372	HP:0007159	Fluctuations in consciousness	1	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0004372	HP:0007159	Fluctuations in consciousness	1	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0004372	HP:0001289	Confusion	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0004372	HP:0001259	Coma	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0004372	HP:0002329	Drowsiness	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0004372	HP:0001259	Coma	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0004372	HP:0001254	Lethargy	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0004372	HP:0001259	Coma	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0004372	HP:0001259	Coma	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	110
HP:0004372	HP:0001289	Confusion	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0004372	HP:0007185	Loss of consciousness	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0004372	HP:0001254	Lethargy	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0004372	HP:0001254	Lethargy	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0004372	HP:0001254	Lethargy	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0004372	HP:0001254	Lethargy	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0004372	HP:0001259	Coma	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0004372	HP:0001259	Coma	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0004372	HP:0001262	Excessive daytime somnolence	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0004372	HP:0001254	Lethargy	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0004372	HP:0007159	Fluctuations in consciousness	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040283 - Occasional	271
HP:0004372	HP:0001254	Lethargy	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0004372	HP:0001289	Confusion	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0004372	HP:0007185	Loss of consciousness	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0004372	HP:0001259	Coma	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0004372	HP:0001289	Confusion	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0004372	HP:0001254	Lethargy	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0004372	HP:0001254	Lethargy	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0004372	HP:0001254	Lethargy	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0004372	HP:0001254	Lethargy	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0004372	HP:0001254	Lethargy	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0004372	HP:0001254	Lethargy	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001254	Lethargy	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0004372	HP:0001254	Lethargy	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001254	Lethargy	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0004372	HP:0001254	Lethargy	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0004372	HP:0002329	Drowsiness	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0004372	HP:0007185	Loss of consciousness	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0004372	HP:0001259	Coma	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0004372	HP:0001254	Lethargy	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0004372	HP:0001289	Confusion	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0004372	HP:0001254	Lethargy	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0004372	HP:0007185	Loss of consciousness	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0004372	HP:0001259	Coma	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0004372	HP:0001289	Confusion	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0004372	HP:0001254	Lethargy	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0004372	HP:0001289	Confusion	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0004372	HP:0001254	Lethargy	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0004372	HP:0001259	Coma	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0004372	HP:0007185	Loss of consciousness	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0004372	HP:0001289	Confusion	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0004372	HP:0001254	Lethargy	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0004372	HP:0001254	Lethargy	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0004372	HP:0001289	Confusion	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0004372	HP:0007159	Fluctuations in consciousness	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0004372	HP:0001254	Lethargy	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040283 - Occasional	9
HP:0004372	HP:0001254	Lethargy	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0004372	HP:0001254	Lethargy	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0004372	HP:0001254	Lethargy	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0004372	HP:0031358	Vegetative state	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0004372	HP:0001254	Lethargy	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0004372	HP:0001262	Excessive daytime somnolence	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0004372	HP:0001259	Coma	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0004372	HP:0001289	Confusion	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004372	HP:0001259	Coma	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0004372	HP:0001254	Lethargy	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0004372	HP:0007185	Loss of consciousness	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0004372	HP:0002329	Drowsiness	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent	15
HP:0004372	HP:0001259	Coma	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0004372	HP:0007185	Loss of consciousness	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0004372	HP:0001262	Excessive daytime somnolence	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5
HP:0004372	HP:0001259	Coma	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5
HP:0004372	HP:0007185	Loss of consciousness	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0004372	HP:0001254	Lethargy	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0004372	HP:0001259	Coma	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0004372	HP:0001254	Lethargy	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0004372	HP:0007159	Fluctuations in consciousness	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7
HP:0004372	HP:0001254	Lethargy	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0004372	HP:0001254	Lethargy	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0004372	HP:0001254	Lethargy	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0004372	HP:0001254	Lethargy	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0004372	HP:0001262	Excessive daytime somnolence	1	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	3
HP:0004372	HP:0001262	Excessive daytime somnolence	1	ZNF365 CL E G H	22891	18194	ORPHA:83465	Narcolepsy type 2	HP:0040281 - Very frequent	3
HP:0004372	HP:0002329	Drowsiness	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0004372	HP:0001325	Hypoglycemic coma	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0004372	HP:0001325	Hypoglycemic coma	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0004372	HP:0001325	Hypoglycemic coma	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0004372	HP:0031258	Delirium	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0004372	HP:0031258	Delirium	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0004372	HP:0001325	Hypoglycemic coma	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0004372	HP:0001325	Hypoglycemic coma	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0004372	HP:0001325	Hypoglycemic coma	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0004372	HP:0031258	Delirium	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional	111
HP:0004372	HP:0031258	Delirium	2	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0004372	HP:0001325	Hypoglycemic coma	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0004372	HP:0001325	Hypoglycemic coma	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0004372	HP:0001325	Hypoglycemic coma	2	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0004372	HP:0002330	Paroxysmal drowsiness	2	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.	1
HP:0004372	HP:0001325	Hypoglycemic coma	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0004372	HP:0001325	Hypoglycemic coma	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0004372	HP:0001325	Hypoglycemic coma	2	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0004372	HP:0001325	Hypoglycemic coma	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0004372	HP:0001325	Hypoglycemic coma	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0004372	HP:0031258	Delirium	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0004372	HP:0031258	Delirium	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004372	HP:0001325	Hypoglycemic coma	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0004372	HP:0031258	Delirium	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0004372	HP:0001325	Hypoglycemic coma	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0004372	HP:0001325	Hypoglycemic coma	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0004372	HP:0001325	Hypoglycemic coma	2	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0004372	HP:0031258	Delirium	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004372	HP:0031258	Delirium	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0004372	HP:0031258	Delirium	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0004372	HP:0011973	Paroxysmal lethargy	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0004372	HP:0001325	Hypoglycemic coma	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0004372	HP:0031258	Delirium	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0004372	HP:0001325	Hypoglycemic coma	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0004372	HP:0001325	Hypoglycemic coma	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15