Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
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 | 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: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 | 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:0009733 | Glioma | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 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: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:0009733 | Glioma | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | | | | 7642 | | |
HP:0100705 | HP:0100707 | Abnormal astrocyte morphology | 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:0009733 | Glioma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma 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 | 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:0009733 | Glioma | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 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: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:0100707 | Abnormal astrocyte morphology | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0100705 | HP:0009733 | Glioma | 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: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 | 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: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 | 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: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 | 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:0100707 | Abnormal astrocyte morphology | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0100705 | HP:0009733 | Glioma | 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:0100707 | Abnormal astrocyte morphology | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | | | | 911 | | |
HP:0100705 | HP:0009733 | Glioma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | | | | 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 | 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: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 | 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:0006990 | Myelin-dependent gliosis | 2 | CL E G H | | | | | | | | | | |
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: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:0002446 | Astrocytosis | 2 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 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:0009592 | Astrocytoma | 2 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | 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 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
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:0002446 | Astrocytosis | 2 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
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:0012174 | Glioblastoma multiforme | 2 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | . | | | 77 | | |
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: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:0002888 | Ependymoma | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 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: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:0002888 | Ependymoma | 2 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
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 | 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:0009592 | Astrocytoma | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 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: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:0009592 | Astrocytoma | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040284 - Very rare | | | 220 | | |
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:0002888 | Ependymoma | 2 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0100705 | HP:0009592 | Astrocytoma | 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 | | |