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:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0040132 | HP:0040132 | Abnormal sensory nerve conduction velocity | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0040132 | HP:0003448 | Decreased sensory nerve conduction velocity | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |