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:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 439 | 26147 | 615900 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 354 | 348 | 600253 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 650 | 17090 | 616432 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 87 | 17146 | 615407 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 106 | 694 | 604695 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 159 | 13210 | 608845 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 712 | 967 | 606151 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 668 | 12703 | 607854 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 225 | 1375 | 114760 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 704 | 14550 | 609502 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 21699 | 608381 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 296 | 12605 | 606397 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 336 | 2148 | 123825 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 2151 | 600724 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1274 | 2343 | 604210 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 442 | 2383 | 602225 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 575 | 17211 | 605584 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ESR1 CL E G H | 2099 | 615363 | Estrogen resistance | 615363 | C3809250 | OMIM | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2984 | 21555 | 612424 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 532 | 25808 | 613596 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 453 | 3960 | 607643 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 184 | 4679 | 602275 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 843 | 26527 | 610453 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 236 | 5385 | 604526 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1284 | 29077 | 614620 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 989 | 30391 | 607386 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 174 | 20606 | 600595 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 6052 | 146690 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 709 | 18362 | 607056 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | INSR CL E G H | 3643 | 262190 | Pineal hyperplasia AND diabetes mellitus syndrome | 262190 | C0271695 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 983 | 22219 | 613344 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 309 | 15865 | 615757 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LEP CL E G H | 3952 | 66628 | | | | ORPHA | 1 | | 118 | 6553 | 164160 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LEPR CL E G H | 3953 | 179494 | | | | ORPHA | 1 | | 222 | 6554 | 601007 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 212 | 6685 | 604863 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 350 | 6816 | 154235 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 654 | 7027 | 604705 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 146 | 7745 | 604043 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 504 | 7974 | 604485 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 241 | 8002 | 162080 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 789 | 2567 | 300170 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 849 | 34383 | 613425 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 672 | 8785 | 180071 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 958 | 8786 | 180072 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 95 | 8789 | 180073 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 101 | 9076 | 170290 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 117 | 32528 | 610598 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 245 | 17348 | 607301 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 497 | 15446 | 606419 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 221 | 17349 | 607795 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 451 | 15860 | 613979 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 930 | 17340 | 607300 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 833 | 9921 | 180290 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 382 | 19977 | 608830 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 30078 | 609346 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 229 | 9990 | 600342 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10012 | 180380 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 10024 | 180090 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 10254 | 180721 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1037 | 10263 | 603937 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 417 | 10274 | 300757 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 66 | 10288 | 607331 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 658 | 10294 | 180069 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 985 | 10295 | 312610 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 331 | 10521 | 181031 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 94 | 13081 | 611611 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 386 | 10729 | 607292 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SH2B1 CL E G H | 25970 | 329249 | | | | ORPHA | 1 | | 204 | 30417 | 608937 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SIM1 CL E G H | 6492 | 369873 | | | | ORPHA | 1 | | 166 | 10882 | 603128 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 352 | 29326 | 615720 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 807 | 30859 | 601664 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 332 | 20423 | 609868 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 438 | 21653 | 609507 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 320 | 20087 | 608132 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 356 | 12406 | 601197 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 472 | 12423 | 602280 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 5605 | 12601 | 608400 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ZMPSTE24 CL E G H | 10269 | 608612 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 | C1837756 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 369 | 20041 | 616454 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 290 | 26498 | 613598 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 439 | 26147 | 615900 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 439 | 26147 | 615900 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 354 | 348 | 600253 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 354 | 348 | 600253 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 650 | 17090 | 616432 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 650 | 17090 | 616432 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 87 | 17146 | 615407 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 87 | 17146 | 615407 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 106 | 694 | 604695 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 106 | 694 | 604695 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 159 | 13210 | 608845 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 159 | 13210 | 608845 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 712 | 967 | 606151 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 712 | 967 | 606151 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 668 | 12703 | 607854 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 668 | 12703 | 607854 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 225 | 1375 | 114760 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 225 | 1375 | 114760 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 115 | 1527 | 601047 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 704 | 14550 | 609502 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 704 | 14550 | 609502 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 21699 | 608381 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 21699 | 608381 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 296 | 12605 | 606397 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 296 | 12605 | 606397 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 336 | 2148 | 123825 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 336 | 2148 | 123825 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 2151 | 600724 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 2151 | 600724 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1274 | 2343 | 604210 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1274 | 2343 | 604210 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 442 | 2383 | 602225 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 442 | 2383 | 602225 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 318 | 20603 | 608172 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 575 | 17211 | 605584 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 575 | 17211 | 605584 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ESR1 CL E G H | 2099 | 615363 | Estrogen resistance | 615363 | C3809250 | OMIM | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ESR1 CL E G H | 2099 | 615363 | Estrogen resistance | 615363 | C3809250 | OMIM | 1 | | 191 | 3467 | 133430 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2984 | 21555 | 612424 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2984 | 21555 | 612424 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 532 | 25808 | 613596 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 532 | 25808 | 613596 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 453 | 3960 | 607643 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 453 | 3960 | 607643 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 184 | 4679 | 602275 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 184 | 4679 | 602275 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 843 | 26527 | 610453 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 843 | 26527 | 610453 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 236 | 5385 | 604526 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 236 | 5385 | 604526 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1284 | 29077 | 614620 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1284 | 29077 | 614620 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 989 | 30391 | 607386 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 989 | 30391 | 607386 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 174 | 20606 | 600595 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 174 | 20606 | 600595 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 6052 | 146690 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 6052 | 146690 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 709 | 18362 | 607056 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 709 | 18362 | 607056 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | INSR CL E G H | 3643 | 262190 | Pineal hyperplasia AND diabetes mellitus syndrome | 262190 | C0271695 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | INSR CL E G H | 3643 | 262190 | Pineal hyperplasia AND diabetes mellitus syndrome | 262190 | C0271695 | OMIM | 1 | | 553 | 6091 | 147670 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 983 | 22219 | 613344 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 983 | 22219 | 613344 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 309 | 15865 | 615757 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 309 | 15865 | 615757 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 258 | 15646 | 611119 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LEP CL E G H | 3952 | 66628 | | | | ORPHA | 1 | | 118 | 6553 | 164160 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LEP CL E G H | 3952 | 66628 | | | | ORPHA | 1 | | 118 | 6553 | 164160 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LEPR CL E G H | 3953 | 179494 | | | | ORPHA | 1 | | 222 | 6554 | 601007 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LEPR CL E G H | 3953 | 179494 | | | | ORPHA | 1 | | 222 | 6554 | 601007 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 212 | 6685 | 604863 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 212 | 6685 | 604863 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 350 | 6816 | 154235 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 350 | 6816 | 154235 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 654 | 7027 | 604705 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 654 | 7027 | 604705 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 146 | 7745 | 604043 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 146 | 7745 | 604043 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 504 | 7974 | 604485 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 504 | 7974 | 604485 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 241 | 8002 | 162080 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 241 | 8002 | 162080 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 789 | 2567 | 300170 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 789 | 2567 | 300170 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 849 | 34383 | 613425 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 849 | 34383 | 613425 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 672 | 8785 | 180071 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 672 | 8785 | 180071 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 958 | 8786 | 180072 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 958 | 8786 | 180072 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 95 | 8789 | 180073 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 95 | 8789 | 180073 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 101 | 9076 | 170290 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 101 | 9076 | 170290 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 117 | 32528 | 610598 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 117 | 32528 | 610598 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 245 | 17348 | 607301 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 245 | 17348 | 607301 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 497 | 15446 | 606419 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 497 | 15446 | 606419 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 221 | 17349 | 607795 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 221 | 17349 | 607795 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 451 | 15860 | 613979 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 451 | 15860 | 613979 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 930 | 17340 | 607300 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 930 | 17340 | 607300 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 833 | 9921 | 180290 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 833 | 9921 | 180290 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 382 | 19977 | 608830 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 382 | 19977 | 608830 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 30078 | 609346 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 30078 | 609346 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 229 | 9990 | 600342 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 229 | 9990 | 600342 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10012 | 180380 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10012 | 180380 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 10024 | 180090 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 10024 | 180090 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 10254 | 180721 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 10254 | 180721 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1037 | 10263 | 603937 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1037 | 10263 | 603937 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 417 | 10274 | 300757 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 417 | 10274 | 300757 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 66 | 10288 | 607331 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 66 | 10288 | 607331 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 658 | 10294 | 180069 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 658 | 10294 | 180069 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 985 | 10295 | 312610 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 985 | 10295 | 312610 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 331 | 10521 | 181031 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 331 | 10521 | 181031 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 94 | 13081 | 611611 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 94 | 13081 | 611611 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 386 | 10729 | 607292 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 386 | 10729 | 607292 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SH2B1 CL E G H | 25970 | 329249 | | | | ORPHA | 1 | | 204 | 30417 | 608937 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SH2B1 CL E G H | 25970 | 329249 | | | | ORPHA | 1 | | 204 | 30417 | 608937 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SIM1 CL E G H | 6492 | 369873 | | | | ORPHA | 1 | | 166 | 10882 | 603128 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SIM1 CL E G H | 6492 | 369873 | | | | ORPHA | 1 | | 166 | 10882 | 603128 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 352 | 29326 | 615720 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 352 | 29326 | 615720 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 807 | 30859 | 601664 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 807 | 30859 | 601664 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 332 | 20423 | 609868 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 332 | 20423 | 609868 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 438 | 21653 | 609507 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 438 | 21653 | 609507 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 320 | 20087 | 608132 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 320 | 20087 | 608132 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 356 | 12406 | 601197 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 356 | 12406 | 601197 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 472 | 12423 | 602280 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 472 | 12423 | 602280 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 5605 | 12601 | 608400 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 5605 | 12601 | 608400 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ZMPSTE24 CL E G H | 10269 | 608612 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 | C1837756 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ZMPSTE24 CL E G H | 10269 | 608612 | Mandibuloacral dysplasia with type B lipodystrophy | 608612 | C1837756 | OMIM | 1 | | 176 | 12877 | 606480 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 369 | 20041 | 616454 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 369 | 20041 | 616454 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 290 | 26498 | 613598 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 290 | 26498 | 613598 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | INS CL E G H | 3630 | 616214 | Hyperproinsulinemia | 616214 | C0342283 | OMIM | 0 | | 168 | 6081 | 176730 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | MC4R CL E G H | 4160 | 71529 | | | | ORPHA | 0 | | 203 | 6932 | 155541 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 204 | 8743 | 162150 |
HP:0000842 | HP:0000842 | Hyperinsulinemia | 0 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 107 | 9201 | 176830 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | INS CL E G H | 3630 | 616214 | Hyperproinsulinemia | 616214 | C0342283 | OMIM | 0 | | 168 | 6081 | 176730 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | INS CL E G H | 3630 | 616214 | Hyperproinsulinemia | 616214 | C0342283 | OMIM | 0 | | 168 | 6081 | 176730 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | MC4R CL E G H | 4160 | 71529 | | | | ORPHA | 0 | | 203 | 6932 | 155541 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | MC4R CL E G H | 4160 | 71529 | | | | ORPHA | 0 | | 203 | 6932 | 155541 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 204 | 8743 | 162150 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 204 | 8743 | 162150 |
HP:0000842 | HP:0000825 | Hyperinsulinemic hypoglycemia | 1 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 107 | 9201 | 176830 |
HP:0000842 | HP:0008283 | Fasting hyperinsulinemia | 1 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 107 | 9201 | 176830 |