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:0002527 | HP:0002527 | Falls | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0002527 | HP:0002527 | Falls | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0002527 | HP:0002527 | Falls | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002527 | HP:0002527 | Falls | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002527 | HP:0002527 | Falls | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 449 | | |
HP:0002527 | HP:0002527 | Falls | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0002527 | HP:0002527 | Falls | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0002527 | HP:0002527 | Falls | 0 | CUX2 CL E G H | 23316 | 19347 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002527 | HP:0002527 | Falls | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040282 - Frequent | | | 1496 | | |
HP:0002527 | HP:0002527 | Falls | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0002527 | HP:0002527 | Falls | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040281 - Very frequent | | | 76 | | |
HP:0002527 | HP:0002527 | Falls | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0002527 | HP:0002527 | Falls | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0002527 | HP:0002527 | Falls | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002527 | HP:0002527 | Falls | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040283 - Occasional | | | 121 | | |
HP:0002527 | HP:0002527 | Falls | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPK10 CL E G H | 5602 | 6872 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002527 | HP:0002527 | Falls | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0002527 | HP:0002527 | Falls | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0002527 | HP:0002527 | Falls | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0002527 | HP:0002527 | Falls | 0 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | . | | | 1 | | |
HP:0002527 | HP:0002527 | Falls | 0 | OGDH CL E G H | 4967 | 8124 | OMIM:203740 | Alpha-Ketoglutarate dehydrogenase deficiency | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0002527 | HP:0002527 | Falls | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002527 | HP:0002527 | Falls | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002527 | HP:0002527 | Falls | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0002527 | HP:0002527 | Falls | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |
HP:0002527 | HP:0002527 | Falls | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:2382 | Lennox-Gastaut syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002527 | HP:0002527 | Falls | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0002527 | HP:0002527 | Falls | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0002527 | HP:0002527 | Falls | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002527 | HP:0002527 | Falls | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040284 - Very rare | | | 7128 | | |
HP:0002527 | HP:0002527 | Falls | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |