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:0002145 | HP:0002145 | Frontotemporal dementia | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 74 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 56 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 11 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 105 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040282 - Frequent | | | 31 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | . | | | 5 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040282 - Frequent | | | 5 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040281 - Very frequent | | | 2 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 241 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 59 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 20 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 31 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TUBA4A CL E G H | 7277 | 12407 | OMIM:616208 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | HP:0040283 - Occasional | | | 6 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | . | | | 20 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040281 - Very frequent | | | 63 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040282 - Frequent | | | 63 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040283 - Occasional | | | 189 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 74 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 241 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | | | |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 31 | | |