Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9orf72 CL E G H | 203228 | 100070 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 100070 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 100070 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | HNRNPA2B1 CL E G H | 3181 | 615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 615422 | C3809468 | OMIM | 1 | | 295 | 5033 | 600124 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 100070 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PRKAR1B CL E G H | 5575 | 412066 | | | | ORPHA | 1 | | 245 | 9390 | 176911 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 100070 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TMEM106B CL E G H | 54664 | 100070 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TREM2 CL E G H | 54209 | 100070 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 100070 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | C9orf72 CL E G H | 203228 | 100070 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHMP2B CL E G H | 25978 | 100070 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | GRN CL E G H | 2896 | 100070 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | HNRNPA2B1 CL E G H | 3181 | 615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 615422 | C3809468 | OMIM | 1 | | 295 | 5033 | 600124 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | MAPT CL E G H | 4137 | 100070 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 1 | | 775 | 9039 | 603604 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PRKAR1B CL E G H | 5575 | 412066 | | | | ORPHA | 1 | | 245 | 9390 | 176911 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN1 CL E G H | 5663 | 100070 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 309 | 11571 | 605078 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TMEM106B CL E G H | 54664 | 100070 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TREM2 CL E G H | 54209 | 100070 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 273 | 12509 | 300264 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | VCP CL E G H | 7415 | 100070 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 0 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | TUBA4A CL E G H | 7277 | 616208 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 616208 | C4015512 | OMIM | 0 | | 82 | 12407 | 191110 |
HP:0002145 | HP:0002145 | Frontotemporal dementia | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 0 | | 160 | 24537 | 609512 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | TUBA4A CL E G H | 7277 | 616208 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 616208 | C4015512 | OMIM | 0 | | 82 | 12407 | 191110 |
HP:0002145 | HP:0030219 | Semantic dementia | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |