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:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 253 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040284 - Very rare | | | 81 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0004926 | HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |