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:0001335 | HP:0001335 | Bimanual synkinesia | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 426 | 6211 | 300836 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | CEP152 CL E G H | 22995 | 614852 | Primary autosomal recessive microcephaly 9 | 614852 | C3553886 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DCC CL E G H | 1630 | 238722 | | | | ORPHA | 1 | | 175 | 2701 | 120470 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DCC CL E G H | 1630 | 157600 | Mirror movements 1 | 157600 | C1834870 | OMIM | 1 | | 175 | 2701 | 120470 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DNAL4 CL E G H | 10126 | 238722 | | | | ORPHA | 1 | | 25 | 2955 | 610565 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DNAL4 CL E G H | 10126 | 616059 | Mirror movements 3 | 616059 | C4015124 | OMIM | 1 | | 25 | 2955 | 610565 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | | 688 | 3688 | 136350 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | KNL1 CL E G H | 57082 | 604321 | Primary autosomal recessive microcephaly 4 | 604321 | C1858516 | OMIM | 1 | | 319 | 24054 | 609173 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | NTN1 CL E G H | 9423 | 238722 | | | | ORPHA | 1 | | 26 | 8029 | 601614 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | RAD51 CL E G H | 5888 | 238722 | | | | ORPHA | 1 | | 260 | 9817 | 179617 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | RAD51 CL E G H | 5888 | 614508 | Mirror movements 2 | 614508 | C3281089 | OMIM | 1 | | 260 | 9817 | 179617 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 426 | 6211 | 300836 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 179 | 26821 | 616031 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2318 | 20626 | 608892 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 175 | 2701 | 120470 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DCC CL E G H | 1630 | 617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 | 617542 | C4479640 | OMIM | 0 | | 175 | 2701 | 120470 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 51 | 3072 | 602748 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 22788 | 613301 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 100 | 3673 | 603725 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3686 | 600483 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 688 | 3688 | 136350 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 54 | 3762 | 604808 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | GDF6 CL E G H | 392255 | 118100 | Klippel-Feil syndrome 1, autosomal dominant | 118100 | C1861689 | OMIM | 0 | | 312 | 4221 | 601147 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 76 | 4877 | 601802 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 85 | 5201 | 604846 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 110 | 17616 | 606807 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 4510 | 604161 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 145 | 29843 | 608137 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 55 | 18455 | 607002 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 15836 | 607123 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 169 | 10723 | 603961 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 302 | 11190 | 602229 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 45 | 15533 | 607984 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 111 | 11528 | 162332 |
HP:0001335 | HP:0001335 | Bimanual synkinesia | 0 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 293 | 13831 | 606417 |