Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040283 - Occasional | | | 1 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040283 - Occasional | | | 93 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | 25 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | HP:0040283 - Occasional | | | 48 | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040282 - Frequent | | | | | |
HP:0008075 | HP:0008075 | Progressive pes cavus | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |