Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | . | | | 114 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 32 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ANG CL E G H | 283 | 483 | OMIM:611895 | Amyotrophic lateral sclerosis 9 | . | | | 32 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:617839 | Amyotrophic lateral sclerosis 23 | . | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 11 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 56 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 11 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | . | | | 11 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 42 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 86 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 4 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 15 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | . | | | 15 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 111 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612577 | Amyotrophic lateral sclerosis 11 | | | | 111 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 105 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | FUS CL E G H | 2521 | 4010 | OMIM:608030 | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | . | | | 105 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 105 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 45 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 31 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615426 | Amyotrophic lateral sclerosis 20 | . | | | 31 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617921 | Amyotrophic lateral sclerosis, susceptibility to, 25 | . | | | 93 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 80 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 24 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 101 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 62 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | . | | | 62 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 6 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PFN1 CL E G H | 5216 | 8881 | OMIM:614808 | AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18 | | | | 6 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 4 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 2 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 1 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 1 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 25 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | . | | | 6 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 6 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 53 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 287 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 62 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 65 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 20 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 31 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TRPM7 CL E G H | 54822 | 17994 | OMIM:105500 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | . | | | 2 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | TUBA4A CL E G H | 7277 | 12407 | OMIM:616208 | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | . | | | 6 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 20 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | HP:0040280 - Obligate | | | 20 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 1 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 116 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | . | | | 116 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040280 - Obligate | | | 63 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0007354 | HP:0007354 | Amyotrophic lateral sclerosis | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |