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:0000751 | HP:0000751 | Personality changes | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 56 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 42 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:178509 | Perry syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 126 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | . | | | 12 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | HP:0040282 - Frequent | | | 2 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 133 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:606688 | Spongiform encephalopathy with neuropsychiatric features | . | | | 69 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 241 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 31 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 63 | | |
HP:0000751 | HP:0000751 | Personality changes | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |