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:0002180 | HP:0002180 | Neurodegeneration | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 32 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 56 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 42 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | . | | | 149 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 86 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 15 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 111 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | FOLR1 CL E G H | 2348 | 3791 | OMIM:613068 | Neurodegeneration due to cerebral folate transport deficiency | . | | | 47 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 105 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 31 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 24 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 101 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | | | | 75 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 6 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:245300 | KURU, SUSCEPTIBILITY TO | | | | 69 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 25 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 53 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 65 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 20 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 31 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 20 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002180 | HP:0002180 | Neurodegeneration | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 116 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 28 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0002180 | HP:0002528 | Granulovacuolar degeneration | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 33 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 34 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 55 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002180 | HP:0040140 | Degeneration of the striatum | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 56 | | |