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:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 253 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040281 - Very frequent | | | 100 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040281 - Very frequent | | | 4 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040281 - Very frequent | | | 76 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 139 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | MTPAP CL E G H | 55149 | 25532 | ORPHA:254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 225 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 81 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 1053 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 126 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 427 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040281 - Very frequent | | | 318 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 126 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0007240 | HP:0007240 | Progressive gait ataxia | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |