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:0003306 | HP:0003306 | Spinal rigidity | 0 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | ACTA1 CL E G H | 58 | 97244 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | ACVR1 CL E G H | 90 | 337 | | | | ORPHA | 1 | | 169 | 171 | 102576 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CAPN3 CL E G H | 825 | 267 | | | | ORPHA | 1 | | 1288 | 1480 | 114240 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 1 | | 618 | 3331 | 300384 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 1 | | 517 | 3702 | 300163 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | INPP5K CL E G H | 51763 | 617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | 617404 | C4479410 | OMIM | 1 | | 157 | 33882 | 607875 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 1 | | 431 | 37227 | 613727 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 1 | | 220 | 16905 | 607701 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMNA CL E G H | 4000 | 181350 | Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 181350 | C0410190 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMNA CL E G H | 4000 | 613205 | Congenital muscular dystrophy, LMNA-related | 613205 | C2750785 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 3612 | 7577 | 160760 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 1 | | 1263 | 23246 | 608517 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 1 | | 6444 | 7720 | 161650 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | POMT1 CL E G H | 10585 | 609308 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 609308 | C1836373 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SELENON CL E G H | 57190 | 97244 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 1 | | 4598 | 17089 | 608441 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 1 | | 2497 | 17084 | 608442 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 1 | | 740 | 28472 | 612048 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TOR1AIP1 CL E G H | 26092 | 617072 | Muscular dystrophy, limb-girdle, type 2y | 617072 | C4310731 | OMIM | 1 | | 332 | 29456 | 614512 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 1 | | 300 | 12012 | 191030 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 1 | | 139 | 12310 | 604501 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TRIP4 CL E G H | 9325 | 617066 | Muscular dystrophy, congenital, davignon-chauveau type | 617066 | C4310736 | OMIM | 1 | | 139 | 12310 | 604501 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 22859 | 12403 | 188840 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 213 | 325 | 603100 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 0 | | 1782 | 329 | 103320 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 435 | 15832 | 606158 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 115 | 1527 | 601047 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 112 | 9688 | 603198 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 0 | | 147 | 1875 | 601443 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 0 | | 771 | 1912 | 118490 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 0 | | 397 | 2190 | 120350 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 0 | | 397 | 2190 | 120350 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 29 | 3796 | 164810 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | KLHL41 CL E G H | 10324 | 171436 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | LMOD3 CL E G H | 56203 | 171436 | | | | ORPHA | 0 | | 326 | 6649 | 616112 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 0 | | 172 | 7608 | 604875 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | NEB CL E G H | 4703 | 171436 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | POMT1 CL E G H | 10585 | 86812 | | | | ORPHA | 0 | | 737 | 9202 | 607423 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 139 | 9236 | 601487 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 0 | | 443 | 26162 | 617220 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 0 | | 215 | 10936 | 600336 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 0 | | 505 | 10979 | 190315 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 0 | | 375 | 14025 | 608761 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 0 | | 191 | 11132 | 600322 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 0 | | 160 | 11510 | 600104 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TNPO3 CL E G H | 23534 | 608423 | Limb-girdle muscular dystrophy, type 1F | 608423 | C1842062 | OMIM | 0 | | 437 | 17103 | 610032 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | TPM2 CL E G H | 7169 | 171436 | | | | ORPHA | 0 | | 280 | 12011 | 190990 |
HP:0003306 | HP:0003306 | Spinal rigidity | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 0 | | 118 | 12642 | 185880 |