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:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | . | | | 114 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040281 - Very frequent | | | 78 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | HP:0003584 - Late onset | | 114 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 56 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 56 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 11 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 42 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 105 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 126 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 140 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 241 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | . | | | 6 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 20 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 31 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | TRPM7 CL E G H | 54822 | 17994 | OMIM:105500 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | . | | | 2 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 63 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 63 | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | VPS13D CL E G H | 55187 | 23595 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002366 | HP:0002366 | Abnormal lower motor neuron morphology | 0 | VPS41 CL E G H | 27072 | 12713 | ORPHA:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | HP:0040281 - Very frequent | | | | | |