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:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 137 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040282 - Frequent | | | 89 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040282 - Frequent | | | 730 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 71 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040281 - Very frequent | | | 56 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0030973 | HP:0030973 | Postexertional symptom exacerbation | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |