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:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | | | | | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | | | | | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003449 | HP:0003449 | Cold-induced muscle cramps | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0003449 | HP:0003435 | Cold-induced hand cramps | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0003449 | HP:0003435 | Cold-induced hand cramps | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0003449 | HP:0003435 | Cold-induced hand cramps | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0003449 | HP:0003435 | Cold-induced hand cramps | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0003449 | HP:0003435 | Cold-induced hand cramps | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |