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:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615686 | Spastic paraplegia 63, autosomal recessive | | | | 21 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | HP:0040283 - Occasional | | | 25 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040283 - Occasional | | | 3 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040282 - Frequent | | | 208 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0006938 | HP:0006938 | Impaired vibration sensation at ankles | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |