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:0030051 | HP:0030051 | Tip-toe gait | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | | | | 60 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | | | | 18 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040283 - Occasional | | | 29 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | | | | 1496 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040284 - Very rare | | | 600 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | | | | 600 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | HP:0040282 - Frequent | | | 2 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | . | | | 2 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040283 - Occasional | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040283 - Occasional | | | 38 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | | | | 11 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | | | | 3 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | | 132 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040283 - Occasional | | | 83 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0030051 | HP:0030051 | Tip-toe gait | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |