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:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040283 - Occasional | | | | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040282 - Frequent | | | 16 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040284 - Very rare | | | 286 | | |
HP:0009072 | HP:0009072 | Decreased Achilles reflex | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040282 - Frequent | | | 1269 | | |