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:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 2020 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 506 | 129 | 102610 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 2176 | 329 | 103320 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 114 | 33814 | 615358 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ANO5 CL E G H | 203859 | 206549 | | | | ORPHA | 1 | | 1162 | 27337 | 608662 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 1162 | 27337 | 608662 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 986 | 939 | 603883 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 656 | 1052 | 601248 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 656 | 1052 | 601248 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CASQ1 CL E G H | 844 | 2593 | | | | ORPHA | 1 | | 249 | 1512 | 114250 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CAV3 CL E G H | 859 | 488650 | | | | ORPHA | 1 | | 417 | 1529 | 601253 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CAV3 CL E G H | 859 | 123320 | Elevated serum creatine phosphokinase | 123320 | C0241005 | OMIM | 1 | | 417 | 1529 | 601253 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 468 | 1955 | 100690 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 454 | 1961 | 100710 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 505 | 1965 | 100720 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 1011 | 1966 | 100725 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 2548 | 2188 | 120320 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 559 | 2190 | 120350 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1718 | 2211 | 120220 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1928 | 2212 | 120240 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 3001 | 2213 | 120250 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CRYAB CL E G H | 1410 | 399058 | | | | ORPHA | 1 | | 273 | 2389 | 123590 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 273 | 2389 | 123590 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 976 | 2770 | 125660 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 1088 | 2974 | 602378 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 1088 | 2974 | 602378 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 1000 | 26594 | 610285 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DYSF CL E G H | 8291 | 253601 | Limb-girdle muscular dystrophy, type 2B | 253601 | C1850889 | OMIM | 1 | | 3355 | 3097 | 603009 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 695 | 3331 | 300384 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 586 | 3702 | 300163 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKRP CL E G H | 79147 | 370980 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKTN CL E G H | 2218 | 370980 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GNE CL E G H | 10020 | 602 | GNE myopathy | | CN924915 | ORPHA | 1 | | 947 | 23657 | 603824 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 947 | 23657 | 603824 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GYG1 CL E G H | 2992 | 263297 | | | | ORPHA | 1 | | 273 | 4699 | 603942 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | HACD1 CL E G H | 9200 | 2020 | | | | ORPHA | 1 | | 159 | 9639 | 610467 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 1 | | 80 | 5031 | 164017 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 1 | | 295 | 5033 | 600124 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ISPD CL E G H | 729920 | 370980 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ITGA7 CL E G H | 3679 | 2020 | | | | ORPHA | 1 | | 898 | 6143 | 600536 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 530 | 37227 | 613727 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 1 | | 294 | 16905 | 607701 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 294 | 16905 | 607701 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL9 CL E G H | 55958 | 399081 | | | | ORPHA | 1 | | 200 | 18732 | 611201 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 807 | 6501 | 309060 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LDB3 CL E G H | 11155 | 609452 | Myofibrillar myopathy, ZASP-related | 609452 | C1836155 | OMIM | 1 | | 1226 | 15710 | 605906 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 1051 | 6696 | 604270 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MAP3K20 CL E G H | 51776 | 2020 | | | | ORPHA | 1 | | 368 | 17797 | 609479 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MSTO1 CL E G H | 55154 | 502423 | | | | ORPHA | 1 | | 158 | 29678 | 617619 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 237 | 26190 | 611089 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 620 | 7525 | 601296 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 81 | 7566 | 159991 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH14 CL E G H | 79784 | 397744 | | | | ORPHA | 1 | | 1062 | 23212 | 608568 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 437572 | | | | ORPHA | 1 | | 4106 | 7577 | 160760 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 608358 | Myosin storage myopathy | 608358 | C1842160 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 181430 | Scapuloperoneal myopathy, MYH7-related | 181430 | CN074265 | OMIM | 1 | | 4106 | 7577 | 160760 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYL2 CL E G H | 4633 | 2020 | | | | ORPHA | 1 | | 496 | 7583 | 160781 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYOT CL E G H | 9499 | 98911 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 372 | 12399 | 604103 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 1 | | 1485 | 23246 | 608517 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 8530 | 7720 | 161650 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 399103 | | | | ORPHA | 1 | | 8530 | 7720 | 161650 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 1 | | 8530 | 7720 | 161650 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 8530 | 7720 | 161650 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ORAI1 CL E G H | 84876 | 2593 | | | | ORPHA | 1 | | 326 | 25896 | 610277 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 1 | | 5068 | 9069 | 601282 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 357 | 9180 | 604983 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POMT1 CL E G H | 10585 | 370980 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 562 | 9863 | 601592 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RYR1 CL E G H | 6261 | 424107 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RYR1 CL E G H | 6261 | 169189 | | | | ORPHA | 1 | | 6164 | 10483 | 180901 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SELENON CL E G H | 57190 | 2020 | | | | ORPHA | 1 | | 651 | 15999 | 606210 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SGCA CL E G H | 6442 | 608099 | Limb-girdle muscular dystrophy, type 2D | 608099 | C2936332 | OMIM | 1 | | 628 | 10805 | 600119 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SGCG CL E G H | 6445 | 353 | Kozlowski Warren Fisher syndrome | | | ORPHA | 1 | | 549 | 10809 | 608896 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | STIM1 CL E G H | 6786 | 2593 | | | | ORPHA | 1 | | 635 | 11386 | 605921 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 1 | | 5789 | 17089 | 608441 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 1 | | 3314 | 17084 | 608442 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 1 | | 825 | 28472 | 612048 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TNNT1 CL E G H | 7138 | 98902 | | | | ORPHA | 1 | | 372 | 11948 | 191041 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 1 | | 575 | 17103 | 610032 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 1 | | 341 | 12011 | 190990 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM2 CL E G H | 7169 | 2020 | | | | ORPHA | 1 | | 341 | 12011 | 190990 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 1 | | 343 | 12012 | 191030 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 2020 | | | | ORPHA | 1 | | 343 | 12012 | 191030 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 343 | 12012 | 191030 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 609284 | Nemaline myopathy 1 | 609284 | C1836448 | OMIM | 1 | | 343 | 12012 | 191030 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 1 | | 212 | 12310 | 604501 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 178464 | | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 609 | Alopecia immunodeficiency | | | ORPHA | 1 | | 27503 | 12403 | 188840 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 608807 | Limb-girdle muscular dystrophy, type 2J | 608807 | C1837342 | OMIM | 1 | | 27503 | 12403 | 188840 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 0 | | 2176 | 329 | 103320 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 0 | | 652 | 17104 | 608707 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 0 | | 984 | 1912 | 118490 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 0 | | 559 | 2190 | 120350 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 0 | | 287 | 19711 | 607502 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 0 | | 458 | 2908 | 606582 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 0 | | 98 | 3686 | 600483 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 0 | | 936 | 3688 | 136350 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 0 | | 279 | 3814 | 603621 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 0 | | 95 | 4165 | 139185 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GLI2 CL E G H | 2736 | 280200 | | | | ORPHA | 0 | | 832 | 4318 | 165230 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 0 | | 4106 | 7577 | 160760 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 0 | | 280 | 7608 | 604875 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NODAL CL E G H | 4838 | 280200 | | | | ORPHA | 0 | | 154 | 7865 | 601265 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | PTCH1 CL E G H | 5727 | 280200 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SCN4A CL E G H | 6329 | 684 | | | | ORPHA | 0 | | 1765 | 10591 | 603967 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SHH CL E G H | 6469 | 280200 | | | | ORPHA | 0 | | 429 | 10848 | 600725 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SIX3 CL E G H | 6496 | 280200 | | | | ORPHA | 0 | | 183 | 10889 | 603714 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 0 | | 305 | 10936 | 600336 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 0 | | 568 | 10979 | 190315 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 0 | | 455 | 14025 | 608761 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 0 | | 218 | 11132 | 600322 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SUFU CL E G H | 51684 | 280200 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 0 | | 232 | 11510 | 600104 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TDGF1 CL E G H | 6997 | 280200 | | | | ORPHA | 0 | | | 11701 | 187395 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TGIF1 CL E G H | 7050 | 280200 | | | | ORPHA | 0 | | 261 | 11776 | 602630 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 0 | | 141 | 12642 | 185880 |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ZIC2 CL E G H | 7546 | 280200 | | | | ORPHA | 0 | | 360 | 12873 | 603073 |