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:0002283 | HP:0002283 | Global brain atrophy | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040282 - Frequent | | | 135 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040283 - Occasional | | | 96 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 56 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 11 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CNPY3 CL E G H | 10695 | 11968 | OMIM:617929 | Epileptic encephalopathy, early infantile, 60 | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | | | | 149 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 105 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | HP:0040282 - Frequent | | | 92 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 62 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 20 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 63 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0002283 | HP:0002283 | Global brain atrophy | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |