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:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:617839 | Amyotrophic lateral sclerosis 23 | | | | | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | CEP126 CL E G H | 57562 | 29264 | ORPHA:65684 | Monomelic amyotrophy | HP:0040282 - Frequent | | | | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:65684 | Monomelic amyotrophy | HP:0040282 - Frequent | | | | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 86 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 24 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 25 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 53 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040281 - Very frequent | | | 35 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002398 | HP:0002398 | Degeneration of anterior horn cells | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |