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:0002171	HP:0002171	Gliosis	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0002171	HP:0002171	Gliosis	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0002171	HP:0002171	Gliosis	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0002171	HP:0002171	Gliosis	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002171	HP:0002171	Gliosis	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0002171	HP:0002171	Gliosis	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0002171	HP:0002171	Gliosis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0002171	HP:0002171	Gliosis	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0002171	HP:0002171	Gliosis	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002171	HP:0002171	Gliosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002171	HP:0002171	Gliosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002171	HP:0002171	Gliosis	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002171	HP:0002171	Gliosis	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0002171	HP:0002171	Gliosis	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0002171	HP:0002171	Gliosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0002171	HP:0002171	Gliosis	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0002171	HP:0002171	Gliosis	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0002171	HP:0002171	Gliosis	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0002171	HP:0002171	Gliosis	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0002171	HP:0002171	Gliosis	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.	104
HP:0002171	HP:0002171	Gliosis	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0002171	HP:0002171	Gliosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002171	HP:0002171	Gliosis	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002171	HP:0002171	Gliosis	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002171	HP:0002171	Gliosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0002171	HP:0002171	Gliosis	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0002171	HP:0002171	Gliosis	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0002171	HP:0002171	Gliosis	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0002171	HP:0002171	Gliosis	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0002171	HP:0002171	Gliosis	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0002171	HP:0002171	Gliosis	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0002171	HP:0002171	Gliosis	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0002171	HP:0002171	Gliosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0002171	HP:0002171	Gliosis	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0002171	HP:0002171	Gliosis	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0002171	HP:0002171	Gliosis	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0002171	HP:0002171	Gliosis	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0002171	HP:0002171	Gliosis	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0002171	HP:0002171	Gliosis	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0002171	HP:0002171	Gliosis	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0002171	HP:0002171	Gliosis	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0002171	HP:0002171	Gliosis	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0002171	HP:0002171	Gliosis	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002171	HP:0002171	Gliosis	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0002171	HP:0002171	Gliosis	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002171	HP:0002171	Gliosis	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0002171	HP:0002171	Gliosis	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0002171	HP:0002171	Gliosis	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0002171	HP:0002171	Gliosis	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002171	HP:0002171	Gliosis	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0002171	HP:0002171	Gliosis	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0002171	HP:0002171	Gliosis	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0002171	HP:0002171	Gliosis	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0002171	HP:0002171	Gliosis	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0002171	HP:0002171	Gliosis	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002171	HP:0002171	Gliosis	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0002171	HP:0002171	Gliosis	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0002171	HP:0002171	Gliosis	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0002171	HP:0002171	Gliosis	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0002171	HP:0002171	Gliosis	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002171	HP:0002171	Gliosis	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002171	HP:0002171	Gliosis	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002171	HP:0002171	Gliosis	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0002171	HP:0002171	Gliosis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0002171	HP:0002171	Gliosis	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0002171	HP:0002171	Gliosis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0002171	HP:0002171	Gliosis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002171	HP:0002171	Gliosis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0002171	HP:0002171	Gliosis	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0002171	HP:0002171	Gliosis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002171	HP:0002171	Gliosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002171	HP:0002171	Gliosis	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0002171	HP:0002171	Gliosis	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0002171	HP:0002171	Gliosis	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0002171	HP:0002171	Gliosis	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0002171	HP:0002171	Gliosis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002171	HP:0002171	Gliosis	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002171	HP:0002171	Gliosis	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0002171	HP:0002171	Gliosis	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002171	HP:0002171	Gliosis	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0002171	HP:0002171	Gliosis	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent	60
HP:0002171	HP:0002171	Gliosis	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0002171	HP:0002171	Gliosis	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002171	HP:0002171	Gliosis	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0002171	HP:0002171	Gliosis	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002171	HP:0002171	Gliosis	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0002171	HP:0002171	Gliosis	0	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.	69
HP:0002171	HP:0002171	Gliosis	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0002171	HP:0002171	Gliosis	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0002171	HP:0002171	Gliosis	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0002171	HP:0002171	Gliosis	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0002171	HP:0002171	Gliosis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0002171	HP:0002171	Gliosis	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.	28
HP:0002171	HP:0002171	Gliosis	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002171	HP:0002171	Gliosis	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002171	HP:0002171	Gliosis	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0002171	HP:0002171	Gliosis	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0002171	HP:0002171	Gliosis	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0002171	HP:0002171	Gliosis	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0002171	HP:0002171	Gliosis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0002171	HP:0002171	Gliosis	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0002171	HP:0002171	Gliosis	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002171	HP:0002171	Gliosis	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0002171	HP:0002171	Gliosis	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0002171	HP:0002171	Gliosis	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002171	HP:0002171	Gliosis	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0002171	HP:0002171	Gliosis	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0002171	HP:0002171	Gliosis	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0002171	HP:0002171	Gliosis	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0002171	HP:0002171	Gliosis	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0002171	HP:0002171	Gliosis	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0002171	HP:0002171	Gliosis	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0002171	HP:0002171	Gliosis	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002171	HP:0002171	Gliosis	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0002171	HP:0002171	Gliosis	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0002171	HP:0002171	Gliosis	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0002171	HP:0002171	Gliosis	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002171	HP:0002171	Gliosis	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0002171	HP:0002171	Gliosis	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0002171	HP:0033715	Hippocampal sclerosis	1	CL E G H
HP:0002171	HP:0025037	Hypothalamic gliosis	1	CL E G H
HP:0002171	HP:0006990	Myelin-dependent gliosis	1	CL E G H
HP:0002171	HP:0006999	Basal ganglia gliosis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0002171	HP:0006999	Basal ganglia gliosis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002171	HP:0011960	Substantia nigra gliosis	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002171	HP:0006999	Basal ganglia gliosis	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0002171	HP:0011960	Substantia nigra gliosis	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0002171	HP:0011960	Substantia nigra gliosis	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0002171	HP:0011960	Substantia nigra gliosis	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002171	HP:0012698	Cerebellar gliosis	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002171	HP:0006999	Basal ganglia gliosis	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002171	HP:0011960	Substantia nigra gliosis	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0002171	HP:0011960	Substantia nigra gliosis	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0002171	HP:0006999	Basal ganglia gliosis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0002171	HP:0006999	Basal ganglia gliosis	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002171	HP:0006999	Basal ganglia gliosis	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0002171	HP:0011960	Substantia nigra gliosis	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0002171	HP:0006999	Basal ganglia gliosis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0002171	HP:0012698	Cerebellar gliosis	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002171	HP:0006999	Basal ganglia gliosis	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002171	HP:0012698	Cerebellar gliosis	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0002171	HP:0011960	Substantia nigra gliosis	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2	.	138
HP:0002171	HP:0006999	Basal ganglia gliosis	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0002171	HP:0006999	Basal ganglia gliosis	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0002171	HP:0006999	Basal ganglia gliosis	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0002171	HP:0012698	Cerebellar gliosis	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002171	HP:0011960	Substantia nigra gliosis	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0002171	HP:0011960	Substantia nigra gliosis	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0002171	HP:0006999	Basal ganglia gliosis	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0002171	HP:0011960	Substantia nigra gliosis	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0002171	HP:0011960	Substantia nigra gliosis	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0002171	HP:0006999	Basal ganglia gliosis	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32