Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0000741 | HP:0000741 | Apathy | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0000741 | HP:0000741 | Apathy | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0000741 | HP:0000741 | Apathy | 0 | CACNA1A CL E G H | 773 | 71518 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0000741 | HP:0000741 | Apathy | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 248 | 15559 | 615903 |
HP:0000741 | HP:0000741 | Apathy | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000741 | HP:0000741 | Apathy | 0 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0000741 | HP:0000741 | Apathy | 0 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 1 | | 858 | 2711 | 601143 |
HP:0000741 | HP:0000741 | Apathy | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0000741 | HP:0000741 | Apathy | 0 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0000741 | HP:0000741 | Apathy | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 409 | 4010 | 137070 |
HP:0000741 | HP:0000741 | Apathy | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0000741 | HP:0000741 | Apathy | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0000741 | HP:0000741 | Apathy | 0 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0000741 | HP:0000741 | Apathy | 0 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0000741 | HP:0000741 | Apathy | 0 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0000741 | HP:0000741 | Apathy | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 125 | 14203 | 605268 |
HP:0000741 | HP:0000741 | Apathy | 0 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0000741 | HP:0000741 | Apathy | 0 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0000741 | HP:0000741 | Apathy | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0000741 | HP:0000741 | Apathy | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0000741 | HP:0000741 | Apathy | 0 | PRKAR1B CL E G H | 5575 | 412066 | | | | ORPHA | 1 | | 188 | 9390 | 176911 |
HP:0000741 | HP:0000741 | Apathy | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0000741 | HP:0000741 | Apathy | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0000741 | HP:0000741 | Apathy | 0 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0000741 | HP:0000741 | Apathy | 0 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0000741 | HP:0000741 | Apathy | 0 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 901 | 11103 | 601607 |
HP:0000741 | HP:0000741 | Apathy | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0000741 | HP:0000741 | Apathy | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 542 | 11280 | 601530 |
HP:0000741 | HP:0000741 | Apathy | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0000741 | HP:0000741 | Apathy | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 259 | 11571 | 605078 |
HP:0000741 | HP:0000741 | Apathy | 0 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 259 | 11571 | 605078 |
HP:0000741 | HP:0000741 | Apathy | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 294 | 11584 | 604834 |
HP:0000741 | HP:0000741 | Apathy | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0000741 | HP:0000741 | Apathy | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0000741 | HP:0000741 | Apathy | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000741 | HP:0000741 | Apathy | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 0 | | 738 | 30213 | 610513 |
HP:0000741 | HP:0000741 | Apathy | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 0 | | 108 | 10549 | 611150 |
HP:0000741 | HP:0000741 | Apathy | 0 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 173 | 28337 | 614260 |
HP:0000741 | HP:0000741 | Apathy | 0 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 141 | 24537 | 609512 |
HP:0000741 | HP:0000741 | Apathy | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 205 | 25223 | 609825 |
HP:0000741 | HP:0000741 | Apathy | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 165 | 30343 | 614334 |
HP:0000741 | HP:0000741 | Apathy | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 0 | | 1570 | 24650 | 607001 |
HP:0000741 | HP:0000741 | Apathy | 0 | EHMT1 CL E G H | 79813 | 610253 | Chromosome 9q deletion syndrome | 610253 | C0795833 | OMIM | 0 | | 1570 | 24650 | 607001 |
HP:0000741 | HP:0000741 | Apathy | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 94 | 3296 | 600495 |
HP:0000741 | HP:0000741 | Apathy | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000741 | HP:0000741 | Apathy | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 255 | 11960 | 612003 |
HP:0000741 | HP:0000741 | Apathy | 0 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 417 | 4601 | 138945 |
HP:0000741 | HP:0000741 | Apathy | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2226 | 18618 | 609007 |
HP:0000741 | HP:0000741 | Apathy | 0 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 514 | 6893 | 157140 |
HP:0000741 | HP:0000741 | Apathy | 0 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 452 | 9508 | 104311 |
HP:0000741 | HP:0000741 | Apathy | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 177 | 11138 | 163890 |
HP:0000741 | HP:0000741 | Apathy | 0 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 542 | 11280 | 601530 |
HP:0000741 | HP:0000741 | Apathy | 0 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 87 | 22407 | 613413 |
HP:0000741 | HP:0000741 | Apathy | 0 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 110 | 17761 | 605086 |
HP:0000741 | HP:0000741 | Apathy | 0 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 473 | 12666 | 601023 |
HP:0000741 | HP:0000741 | Apathy | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 184 | 13487 | 601501 |