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:0000727 | HP:0000727 | Frontal lobe dementia | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040284 - Very rare | | | 33 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 39 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 221 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 23 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 55 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 138 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 65 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 9 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 21 | | |
HP:0000727 | HP:0000727 | Frontal lobe dementia | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 8 | | |