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:0001264 | HP:0001264 | Spastic diplegia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040283 - Occasional | | | 15 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | . | | | 3 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | . | | | 88 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300048 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | HP:0040283 - Occasional | | | 493 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040284 - Very rare | | | 160 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040282 - Frequent | | | 17 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 | | | | 8 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | HP:0040282 - Frequent | | | 28 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040284 - Very rare | | | 81 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 287 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 54 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | HP:0040283 - Occasional | | | 12 | | |
HP:0001264 | HP:0001264 | Spastic diplegia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |