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:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ADCY6 CL E G H | 112 | 616287 | Lethal congenital contracture syndrome 8 | 616287 | C4225385 | OMIM | 1 | | 72 | 237 | 600294 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1088 | 1392 | 601013 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CDK5 CL E G H | 1020 | 616342 | Lissencephaly 7 with cerebellar hypoplasia | 616342 | C4225359 | OMIM | 1 | | 88 | 1774 | 123831 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 771 | 1912 | 118490 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 771 | 1912 | 118490 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 220 | 1967 | 100730 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHST14 CL E G H | 113189 | 601776 | Ehlers-Danlos syndrome, musculocontractural type | 601776 | C1866294 | OMIM | 1 | | 211 | 24464 | 608429 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CNTNAP1 CL E G H | 8506 | 616286 | Lethal congenital contracture syndrome 7 | 616286 | C4225386 | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 216 | 2859 | 606418 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | DOK7 CL E G H | 285489 | 994 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 170 | 3147 | 605896 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERBB3 CL E G H | 2065 | 607598 | Lethal congenital contracture syndrome 2 | 607598 | C1843478 | OMIM | 1 | | 97 | 3431 | 190151 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC5 CL E G H | 2073 | 616570 | Cerebrooculofacioskeletal syndrome 3 | 616570 | C1851443 | OMIM | 1 | | 425 | 3437 | 133530 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ERGIC1 CL E G H | 57222 | 208100 | Arthrogryposis multiplex congenita neurogenic type | 208100 | C1859721 | OMIM | 1 | | 25 | 29205 | 617946 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | FBN2 CL E G H | 2201 | 115 | | | | ORPHA | 1 | | 2309 | 3604 | 612570 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GCK CL E G H | 2645 | 99885 | | | | ORPHA | 1 | | 762 | 4195 | 138079 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GLE1 CL E G H | 2733 | 611890 | Lethal arthrogryposis with anterior horn cell disease | 611890 | C2678471 | OMIM | 1 | | 382 | 4315 | 603371 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | GLE1 CL E G H | 2733 | 253310 | Lethal congenital contracture syndrome 1 | 253310 | C1854664 | OMIM | 1 | | 382 | 4315 | 603371 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | HYMAI CL E G H | 57061 | 99886 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | INS CL E G H | 3630 | 99885 | | | | ORPHA | 1 | | 168 | 6081 | 176730 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ITGA6 CL E G H | 3655 | 226730 | Epidermolysis bullosa junctionalis with pyloric atresia | 226730 | C1856934 | OMIM | 1 | | 215 | 6142 | 147556 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ITGB4 CL E G H | 3691 | 226730 | Epidermolysis bullosa junctionalis with pyloric atresia | 226730 | C1856934 | OMIM | 1 | | 439 | 6158 | 147557 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KAT6B CL E G H | 23522 | 85201 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KCNJ11 CL E G H | 3767 | 99886 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KCNJ11 CL E G H | 3767 | 99885 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KIF14 CL E G H | 9928 | 616258 | Meckel syndrome 12 | 616258 | C4015701 | OMIM | 1 | | 176 | 19181 | 611279 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KIF5C CL E G H | 3800 | 615282 | Cortical dysplasia, complex, with other brain malformations 2 | 615282 | C3809013 | OMIM | 1 | | 185 | 6325 | 604593 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | LMNA CL E G H | 4000 | 1662 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MUSK CL E G H | 4593 | 994 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYBPC1 CL E G H | 4604 | 614335 | Distal arthrogryposis type 1B | 614335 | C3280526 | OMIM | 1 | | 279 | 7549 | 160794 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYH3 CL E G H | 4621 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 641 | 7573 | 160720 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYH3 CL E G H | 4621 | 178110 | Distal arthrogryposis type 8 | 178110 | C1867440 | OMIM | 1 | | 641 | 7573 | 160720 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 289 | 7578 | 160741 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 172 | 7608 | 604875 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYOD1 CL E G H | 4654 | 994 | | | | ORPHA | 1 | | 35 | 7611 | 159970 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEK9 CL E G H | 91754 | 614262 | Arthrogryposis, perthes disease, and upward gaze palsy | 614262 | C3280309 | OMIM | 1 | | 82 | 18591 | 609798 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PDX1 CL E G H | 3651 | 99885 | | | | ORPHA | 1 | | 145 | 6107 | 600733 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PI4KA CL E G H | 5297 | 616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 616531 | C4225295 | OMIM | 1 | | 631 | 8983 | 600286 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PIEZO2 CL E G H | 63895 | 114300 | Gordon's syndrome | 114300 | C0220666 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PIEZO2 CL E G H | 63895 | 108145 | Oculomelic amyoplasia | 108145 | C1862472 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 36 | 14937 | 610271 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PIP5K1C CL E G H | 23396 | 611369 | Lethal congenital contractural syndrome 3 | 611369 | C1969655 | OMIM | 1 | | 134 | 8996 | 606102 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PLAGL1 CL E G H | 5325 | 99886 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PLEC CL E G H | 5339 | 226730 | Epidermolysis bullosa junctionalis with pyloric atresia | 226730 | C1856934 | OMIM | 1 | | 4152 | 9069 | 601282 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PPP3CA CL E G H | 5530 | 618265 | 618265 | 618265 | | OMIM | 1 | | 233 | 9314 | 114105 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PSMB8 CL E G H | 5696 | 2615 | | | | ORPHA | 1 | | 161 | 9545 | 177046 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | RAPSN CL E G H | 5913 | 994 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 433 | 9863 | 601592 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 399 | 30220 | 611908 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SHPK CL E G H | 23729 | 440713 | | | | ORPHA | 1 | | 154 | 1492 | 605060 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 1 | | 215 | 10936 | 600336 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 1 | | 505 | 10979 | 190315 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC35A3 CL E G H | 23443 | 615553 | Arthrogryposis, mental retardation, and seizures | 615553 | C3809910 | OMIM | 1 | | 199 | 11023 | 605632 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 1 | | 375 | 14025 | 608761 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 1 | | 191 | 11132 | 600322 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | STAT3 CL E G H | 6774 | 99885 | | | | ORPHA | 1 | | 505 | 11364 | 102582 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 1 | | 160 | 11510 | 600104 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 445 | 11581 | 604649 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TNNI2 CL E G H | 7136 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 113 | 11946 | 191043 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TNNT3 CL E G H | 7140 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 196 | 11950 | 600692 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM2 CL E G H | 7169 | 108120 | Distal arthrogryposis type 1A | 108120 | C0220662 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM2 CL E G H | 7169 | 601680 | Distal arthrogryposis type 2B | 601680 | C1834523 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | VIPAS39 CL E G H | 63894 | 613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | C3150672 | OMIM | 1 | | 167 | 20347 | 613401 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 288 | 12712 | 608552 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ZFP57 CL E G H | 346171 | 99886 | | | | ORPHA | 1 | | 87 | 18791 | 612192 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ZMPSTE24 CL E G H | 10269 | 1662 | | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ZNF335 CL E G H | 63925 | 615095 | Primary autosomal recessive microcephaly 10 | 615095 | C3554499 | OMIM | 1 | | 311 | 15807 | 610827 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ACTA1 CL E G H | 58 | 171436 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ASCC1 CL E G H | 51008 | 616867 | Spinal muscular atrophy with congenital bone fractures 2 | 616867 | C4225176 | OMIM | 0 | | 102 | 24268 | 614215 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | C12orf65 CL E G H | 91574 | 320375 | | | | ORPHA | 0 | | | 26784 | 613541 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CFL2 CL E G H | 1073 | 171436 | | | | ORPHA | 0 | | 147 | 1875 | 601443 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 0 | | 188 | 8740 | 164010 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 0 | | 267 | 8011 | 602346 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 350 | 22140 | 611061 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 0 | | 431 | 37227 | 613727 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 0 | | 2132 | 888 | 601255 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL40 CL E G H | 131377 | 171430 | | | | ORPHA | 0 | | 378 | 30372 | 615340 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL41 CL E G H | 10324 | 171436 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL41 CL E G H | 10324 | 171430 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | KLHL41 CL E G H | 10324 | 615731 | Nemaline myopathy 9 | 615731 | C3810384 | OMIM | 0 | | 220 | 16905 | 607701 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | LMOD3 CL E G H | 56203 | 171436 | | | | ORPHA | 0 | | 326 | 6649 | 616112 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | LMOD3 CL E G H | 56203 | 171430 | | | | ORPHA | 0 | | 326 | 6649 | 616112 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 0 | | 620 | 6814 | 605283 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 0 | | 1778 | 6990 | 300005 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 0 | | 1263 | 23246 | 608517 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEB CL E G H | 4703 | 171430 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | NEB CL E G H | 4703 | 171436 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 519 | 8923 | 606879 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 118 | 9107 | 604282 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 443 | 19129 | 610936 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | RAPSN CL E G H | 5913 | 616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 | C4225367 | OMIM | 0 | | 433 | 9863 | 601592 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 133 | 9968 | 602776 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 0 | | 375 | 14025 | 608761 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 0 | | 536 | 11079 | 300231 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 0 | | 302 | 11190 | 602229 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 0 | | 280 | 12011 | 190990 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM2 CL E G H | 7169 | 171436 | | | | ORPHA | 0 | | 280 | 12011 | 190990 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 0 | | 300 | 12012 | 191030 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 0 | | 300 | 12012 | 191030 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TRIP4 CL E G H | 9325 | 616866 | Spinal muscular atrophy with congenital bone fractures 1 | 616866 | C4225177 | OMIM | 0 | | 139 | 12310 | 604501 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | TRPV4 CL E G H | 59341 | 156530 | Metatrophic dysplasia | 156530 | C0265281 | OMIM | 0 | | 891 | 18083 | 605427 |
HP:0002804 | HP:0002804 | Arthrogryposis multiplex congenita | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 0 | | 110 | 12309 | 604500 |