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:0100705	HP:0100705	Abnormal glial cell morphology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly		19
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive		41
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type		22
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6		104
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease		12
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14		321
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome		125
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain		140
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly		68
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly		162
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1		69
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features		69
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain		241
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy		57
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies		28
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2		3
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4		102
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia		20
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0100705	HP:0100705	Abnormal glial cell morphology	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0100705	HP:0100708	Abnormal microglia morphology	1	CL E G H
HP:0100705	HP:0033035	Abnormal Schwann cell morphology	1	CL E G H
HP:0100705	HP:0002171	Gliosis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0100705	HP:0002171	Gliosis	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0100705	HP:0002171	Gliosis	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0100705	HP:0002171	Gliosis	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100705	HP:0009733	Glioma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100705	HP:0009733	Glioma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100705	HP:0009733	Glioma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100705	HP:0009733	Glioma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100705	HP:0009733	Glioma	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100705	HP:0002171	Gliosis	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0100705	HP:0002171	Gliosis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0100705	HP:0002171	Gliosis	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0100705	HP:0002171	Gliosis	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0100705	HP:0002171	Gliosis	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0100705	HP:0002171	Gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0100705	HP:0002171	Gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0100705	HP:0002171	Gliosis	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0100705	HP:0002171	Gliosis	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0100705	HP:0002171	Gliosis	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0100705	HP:0002171	Gliosis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0100705	HP:0009733	Glioma	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100705	HP:0002171	Gliosis	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0100705	HP:0009733	Glioma	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0100705	HP:0002171	Gliosis	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0100705	HP:0002171	Gliosis	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0100705	HP:0009733	Glioma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100705	HP:0009733	Glioma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100705	HP:0009733	Glioma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0100705	HP:0009733	Glioma	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0100705	HP:0009733	Glioma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100705	HP:0009733	Glioma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100705	HP:0002171	Gliosis	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100705	HP:0009733	Glioma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100705	HP:0009733	Glioma	1	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0100705	HP:0002171	Gliosis	1	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.	104
HP:0100705	HP:0002171	Gliosis	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0100705	HP:0002171	Gliosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0100705	HP:0002171	Gliosis	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100705	HP:0002171	Gliosis	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0100705	HP:0002171	Gliosis	1	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:0100705	HP:0002171	Gliosis	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0100705	HP:0002171	Gliosis	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0100705	HP:0002171	Gliosis	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0100705	HP:0002171	Gliosis	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0100705	HP:0002171	Gliosis	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0100705	HP:0002171	Gliosis	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0100705	HP:0002171	Gliosis	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100705	HP:0009733	Glioma	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0100705	HP:0009733	Glioma	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0100705	HP:0002171	Gliosis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100705	HP:0002171	Gliosis	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0100705	HP:0002171	Gliosis	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0100705	HP:0002171	Gliosis	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0100705	HP:0009733	Glioma	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100705	HP:0002171	Gliosis	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0100705	HP:0002171	Gliosis	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0100705	HP:0002171	Gliosis	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0100705	HP:0002171	Gliosis	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100705	HP:0002171	Gliosis	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0100705	HP:0002171	Gliosis	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0100705	HP:0002171	Gliosis	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0100705	HP:0002171	Gliosis	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0100705	HP:0002171	Gliosis	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0100705	HP:0002171	Gliosis	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0100705	HP:0002171	Gliosis	1	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0100705	HP:0009733	Glioma	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0100705	HP:0009733	Glioma	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100705	HP:0009733	Glioma	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100705	HP:0009733	Glioma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100705	HP:0009733	Glioma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100705	HP:0002171	Gliosis	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0100705	HP:0002171	Gliosis	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0100705	HP:0002171	Gliosis	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0100705	HP:0009733	Glioma	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100705	HP:0002171	Gliosis	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0100705	HP:0002171	Gliosis	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0100705	HP:0002171	Gliosis	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0100705	HP:0009733	Glioma	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0100705	HP:0002171	Gliosis	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0100705	HP:0002171	Gliosis	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0100705	HP:0002171	Gliosis	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0100705	HP:0002171	Gliosis	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0100705	HP:0002171	Gliosis	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0100705	HP:0002171	Gliosis	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0100705	HP:0002171	Gliosis	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100705	HP:0009733	Glioma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100705	HP:0009733	Glioma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100705	HP:0009733	Glioma	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100705	HP:0009733	Glioma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0009733	Glioma	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100705	HP:0002171	Gliosis	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0100705	HP:0002171	Gliosis	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0100705	HP:0009733	Glioma	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100705	HP:0009733	Glioma	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100705	HP:0009733	Glioma	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100705	HP:0009733	Glioma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100705	HP:0009733	Glioma	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100705	HP:0009733	Glioma	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0100705	HP:0002171	Gliosis	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0100705	HP:0002171	Gliosis	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0100705	HP:0002171	Gliosis	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0100705	HP:0009733	Glioma	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0100705	HP:0009733	Glioma	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0100705	HP:0002171	Gliosis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy		31
HP:0100705	HP:0002171	Gliosis	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0100705	HP:0002171	Gliosis	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy		65
HP:0100705	HP:0002171	Gliosis	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0100705	HP:0009733	Glioma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100705	HP:0009733	Glioma	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100705	HP:0009733	Glioma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100705	HP:0009733	Glioma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100705	HP:0009733	Glioma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0100705	HP:0009733	Glioma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100705	HP:0002171	Gliosis	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0100705	HP:0002171	Gliosis	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0100705	HP:0002171	Gliosis	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0100705	HP:0009733	Glioma	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100705	HP:0002171	Gliosis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0100705	HP:0002171	Gliosis	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0100705	HP:0002171	Gliosis	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0100705	HP:0002171	Gliosis	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0100705	HP:0002171	Gliosis	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0100705	HP:0002171	Gliosis	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0100705	HP:0009733	Glioma	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100705	HP:0002171	Gliosis	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0100705	HP:0002171	Gliosis	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0100705	HP:0100706	Abnormal oligodendroglia morphology	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0100705	HP:0002171	Gliosis	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent	60
HP:0100705	HP:0002171	Gliosis	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0100705	HP:0009733	Glioma	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100705	HP:0009733	Glioma	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100705	HP:0009733	Glioma	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100705	HP:0002171	Gliosis	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0100705	HP:0009733	Glioma	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0100705	HP:0002171	Gliosis	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0100705	HP:0002171	Gliosis	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0100705	HP:0002171	Gliosis	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0100705	HP:0002171	Gliosis	1	PRNP CL E G H	5621	9449	OMIM:606688	Spongiform encephalopathy with neuropsychiatric features	.	69
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0100705	HP:0002171	Gliosis	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0100705	HP:0002171	Gliosis	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0100705	HP:0002171	Gliosis	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0100705	HP:0009733	Glioma	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0100705	HP:0009733	Glioma	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0100705	HP:0002171	Gliosis	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0100705	HP:0002171	Gliosis	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy		40
HP:0100705	HP:0009733	Glioma	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0100705	HP:0002171	Gliosis	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.	28
HP:0100705	HP:0009733	Glioma	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0100705	HP:0009733	Glioma	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100705	HP:0002171	Gliosis	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0100705	HP:0009733	Glioma	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0100705	HP:0002171	Gliosis	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0100705	HP:0002171	Gliosis	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0100705	HP:0002171	Gliosis	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0100705	HP:0002171	Gliosis	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0100705	HP:0002171	Gliosis	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0100705	HP:0002171	Gliosis	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy		73
HP:0100705	HP:0002171	Gliosis	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0100705	HP:0002171	Gliosis	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0100705	HP:0002171	Gliosis	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0100705	HP:0002171	Gliosis	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0100705	HP:0002171	Gliosis	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0100705	HP:0002171	Gliosis	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0100705	HP:0009733	Glioma	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100705	HP:0002171	Gliosis	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0100705	HP:0002171	Gliosis	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0100705	HP:0002171	Gliosis	1	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0100705	HP:0009733	Glioma	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100705	HP:0009733	Glioma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0100705	HP:0002171	Gliosis	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0100705	HP:0009733	Glioma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100705	HP:0009733	Glioma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0100705	HP:0009733	Glioma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100705	HP:0009733	Glioma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100705	HP:0002171	Gliosis	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0100705	HP:0002171	Gliosis	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0100705	HP:0002171	Gliosis	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0100705	HP:0002171	Gliosis	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0100705	HP:0002171	Gliosis	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0100705	HP:0100707	Abnormal astrocyte morphology	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0100705	HP:0002171	Gliosis	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0100705	HP:0002171	Gliosis	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0100705	HP:0002171	Gliosis	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0100705	HP:0009733	Glioma	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0100705	HP:0002171	Gliosis	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0100705	HP:0033715	Hippocampal sclerosis	2	CL E G H
HP:0100705	HP:0025037	Hypothalamic gliosis	2	CL E G H
HP:0100705	HP:0006990	Myelin-dependent gliosis	2	CL E G H
HP:0100705	HP:0002446	Astrocytosis	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0100705	HP:0006999	Basal ganglia gliosis	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0100705	HP:0009592	Astrocytoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0100705	HP:0009592	Astrocytoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0100705	HP:0009592	Astrocytoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0100705	HP:0002888	Ependymoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100705	HP:0012174	Glioblastoma multiforme	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100705	HP:0009592	Astrocytoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100705	HP:0009592	Astrocytoma	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100705	HP:0002446	Astrocytosis	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0100705	HP:0006999	Basal ganglia gliosis	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0100705	HP:0011960	Substantia nigra gliosis	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100705	HP:0012174	Glioblastoma multiforme	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0100705	HP:0012174	Glioblastoma multiforme	2	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0100705	HP:0009592	Astrocytoma	2	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0100705	HP:0002446	Astrocytosis	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0100705	HP:0002446	Astrocytosis	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0100705	HP:0002888	Ependymoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0100705	HP:0002888	Ependymoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0100705	HP:0009592	Astrocytoma	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0100705	HP:0012174	Glioblastoma multiforme	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0100705	HP:0002888	Ependymoma	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0100705	HP:0009592	Astrocytoma	2	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.	289
HP:0100705	HP:0002888	Ependymoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0100705	HP:0002888	Ependymoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0100705	HP:0012174	Glioblastoma multiforme	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0100705	HP:0002888	Ependymoma	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0100705	HP:0009592	Astrocytoma	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0100705	HP:0002446	Astrocytosis	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0100705	HP:0002446	Astrocytosis	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0100705	HP:0002446	Astrocytosis	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0100705	HP:0012174	Glioblastoma multiforme	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0100705	HP:0002888	Ependymoma	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0100705	HP:0009592	Astrocytoma	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0100705	HP:0012174	Glioblastoma multiforme	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0100705	HP:0002446	Astrocytosis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0100705	HP:0002446	Astrocytosis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0100705	HP:0012174	Glioblastoma multiforme	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0100705	HP:0006999	Basal ganglia gliosis	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0100705	HP:0011960	Substantia nigra gliosis	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0100705	HP:0011960	Substantia nigra gliosis	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0100705	HP:0011960	Substantia nigra gliosis	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0100705	HP:0002446	Astrocytosis	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0100705	HP:0002446	Astrocytosis	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0100705	HP:0002888	Ependymoma	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0100705	HP:0009592	Astrocytoma	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0100705	HP:0012174	Glioblastoma multiforme	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0100705	HP:0009592	Astrocytoma	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0100705	HP:0009592	Astrocytoma	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0100705	HP:0009592	Astrocytoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100705	HP:0009734	Optic nerve glioma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0100705	HP:0009592	Astrocytoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0100705	HP:0002888	Ependymoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0100705	HP:0012174	Glioblastoma multiforme	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0100705	HP:0002446	Astrocytosis	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0100705	HP:0006999	Basal ganglia gliosis	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0100705	HP:0012698	Cerebellar gliosis	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0100705	HP:0011960	Substantia nigra gliosis	2	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0100705	HP:0002446	Astrocytosis	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0100705	HP:0011960	Substantia nigra gliosis	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0100705	HP:0002446	Astrocytosis	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0100705	HP:0002446	Astrocytosis	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100705	HP:0009592	Astrocytoma	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0100705	HP:0002888	Ependymoma	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0100705	HP:0002888	Ependymoma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0100705	HP:0002888	Ependymoma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0100705	HP:0033681	Oligodendroglioma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0009592	Astrocytoma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100705	HP:0009592	Astrocytoma	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0100705	HP:0009592	Astrocytoma	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0100705	HP:0009592	Astrocytoma	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100705	HP:0012174	Glioblastoma multiforme	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100705	HP:0002446	Astrocytosis	2	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0100705	HP:0006999	Basal ganglia gliosis	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0100705	HP:0006999	Basal ganglia gliosis	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0100705	HP:0006999	Basal ganglia gliosis	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0100705	HP:0010796	Brainstem glioma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100705	HP:0009734	Optic nerve glioma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100705	HP:0010795	Cerebellar glioma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100705	HP:0009734	Optic nerve glioma	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0100705	HP:0009592	Astrocytoma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0100705	HP:0009734	Optic nerve glioma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100705	HP:0009734	Optic nerve glioma	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100705	HP:0002888	Ependymoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0100705	HP:0009592	Astrocytoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0100705	HP:0009592	Astrocytoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0100705	HP:0002888	Ependymoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100705	HP:0011960	Substantia nigra gliosis	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0100705	HP:0009592	Astrocytoma	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100705	HP:0002446	Astrocytosis	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0100705	HP:0006999	Basal ganglia gliosis	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0100705	HP:0012698	Cerebellar gliosis	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0100705	HP:0006999	Basal ganglia gliosis	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0100705	HP:0012174	Glioblastoma multiforme	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0100705	HP:0012698	Cerebellar gliosis	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0100705	HP:0100709	Reduction of oligodendroglia	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0100705	HP:0012174	Glioblastoma multiforme	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0100705	HP:0012174	Glioblastoma multiforme	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0100705	HP:0012174	Glioblastoma multiforme	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100705	HP:0009592	Astrocytoma	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100705	HP:0002446	Astrocytosis	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0100705	HP:0009592	Astrocytoma	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0100705	HP:0011960	Substantia nigra gliosis	2	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2	.	138
HP:0100705	HP:0006999	Basal ganglia gliosis	2	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0100705	HP:0002446	Astrocytosis	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0100705	HP:0002446	Astrocytosis	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0100705	HP:0002446	Astrocytosis	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0100705	HP:0002888	Ependymoma	2	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040280 - Obligate	1
HP:0100705	HP:0012174	Glioblastoma multiforme	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0100705	HP:0006999	Basal ganglia gliosis	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.	40
HP:0100705	HP:0006999	Basal ganglia gliosis	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0100705	HP:0012174	Glioblastoma multiforme	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0100705	HP:0002888	Ependymoma	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0100705	HP:0009592	Astrocytoma	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100705	HP:0012698	Cerebellar gliosis	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0100705	HP:0002446	Astrocytosis	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0100705	HP:0011960	Substantia nigra gliosis	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0100705	HP:0011960	Substantia nigra gliosis	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0100705	HP:0002446	Astrocytosis	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0100705	HP:0002446	Astrocytosis	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0100705	HP:0006999	Basal ganglia gliosis	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0100705	HP:0011960	Substantia nigra gliosis	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0100705	HP:0012174	Glioblastoma multiforme	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0100705	HP:0002446	Astrocytosis	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0100705	HP:0002446	Astrocytosis	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0100705	HP:0012174	Glioblastoma multiforme	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0100705	HP:0009592	Astrocytoma	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0100705	HP:0002888	Ependymoma	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0100705	HP:0012174	Glioblastoma multiforme	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0100705	HP:0002888	Ependymoma	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0100705	HP:0009592	Astrocytoma	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0100705	HP:0002446	Astrocytosis	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0100705	HP:0002446	Astrocytosis	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0100705	HP:0011960	Substantia nigra gliosis	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0100705	HP:0002446	Astrocytosis	2	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0100705	HP:0009592	Astrocytoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100705	HP:0002888	Ependymoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100705	HP:0009592	Astrocytoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100705	HP:0009734	Optic nerve glioma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100705	HP:0002446	Astrocytosis	2	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0100705	HP:0009592	Astrocytoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100705	HP:0009592	Astrocytoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0100705	HP:0009734	Optic nerve glioma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0100705	HP:0002888	Ependymoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0100705	HP:0002446	Astrocytosis	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0100705	HP:0002446	Astrocytosis	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63
HP:0100705	HP:0006999	Basal ganglia gliosis	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0100705	HP:0002888	Ependymoma	2	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040280 - Obligate
HP:0100705	HP:0033680	Pilocytic astrocytoma	3	CL E G H
HP:0100705	HP:0009718	Subependymal giant-cell astrocytoma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0100705	HP:0009718	Subependymal giant-cell astrocytoma	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100705	HP:0033682	Pleomorphic xanthoastrocytoma	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100705	HP:0009718	Subependymal giant-cell astrocytoma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0100705	HP:0009718	Subependymal giant-cell astrocytoma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0100705	HP:0009718	Subependymal giant-cell astrocytoma	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738