Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | | | | 87 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040281 - Very frequent | | | 114 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040284 - Very rare | | | 114 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MICOS13 CL E G H | 125988 | 33702 | ORPHA:67047 | 3-methylglutaconic aciduria type 3 | HP:0040282 - Frequent | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040282 - Frequent | | | 183 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MTPAP CL E G H | 55149 | 25532 | ORPHA:254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MTPAP CL E G H | 55149 | 25532 | OMIM:613672 | Spastic ataxia 4, autosomal recessive | . | | | 19 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67047 | 3-methylglutaconic aciduria type 3 | HP:0040282 - Frequent | | | 163 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040283 - Occasional | | | 52 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:726 | Alpers-Huttenlocher syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | . | | | 28 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | | | | 171 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002313 | HP:0002313 | Spastic paraparesis | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040282 - Frequent | | | 1 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040280 - Obligate | | | | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040282 - Frequent | | | 171 | | |
HP:0002313 | HP:0007199 | Progressive spastic paraparesis | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040283 - Occasional | | | 52 | | |