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:0002464 | HP:0002464 | Spastic dysarthria | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 89 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040282 - Frequent | | | 18 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:447753 | Autosomal dominant spastic paraplegia type 9A | HP:0040283 - Occasional | | | 7 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040282 - Frequent | | | 30 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040282 - Frequent | | | 17 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | MARS2 CL E G H | 92935 | 25133 | ORPHA:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | HP:0040282 - Frequent | | | 25 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040282 - Frequent | | | 171 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0002464 | HP:0002464 | Spastic dysarthria | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |