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:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 56 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 56 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 42 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 42 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 126 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 126 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 140 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 140 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 241 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 241 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 62 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | | | | | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 31 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 31 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 63 | | |
HP:0012657 | HP:0012657 | Abnormal brain positron emission tomography | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 63 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 56 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 56 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 42 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 42 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 126 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 126 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 140 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 140 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 241 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 241 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 62 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 31 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 31 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040282 - Frequent | | | 63 | | |
HP:0012657 | HP:0012658 | Abnormal brain FDG positron emission tomography | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 63 | | |
HP:0012657 | HP:0012661 | Hypothalamic hypometabolism in FDG PET | 2 | CL E G H | | | | | | | | | | |
HP:0012657 | HP:0012660 | Thalamic hypometabolism in FDG PET | 2 | CL E G H | | | | | | | | | | |
HP:0012657 | HP:0012659 | Prefrontal hypometabolism in FDG PET | 2 | CL E G H | | | | | | | | | | |
HP:0012657 | HP:0012662 | Parietal hypometabolism in FDG PET | 2 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0012657 | HP:0012662 | Parietal hypometabolism in FDG PET | 2 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |