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:0000819 | HP:0000819 | Diabetes mellitus | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1892 | 59 | 600509 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | AIRE CL E G H | 326 | 240300 | Polyglandular autoimmune syndrome, type 1 | 240300 | C0085859 | OMIM | 1 | | 1035 | 360 | 607358 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | APOA5 CL E G H | 116519 | 144650 | Familial type 5 hyperlipoproteinemia | 144650 | C0020481 | OMIM | 1 | | 203 | 17288 | 606368 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 157 | 25781 | 615549 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BLK CL E G H | 640 | 613375 | Maturity-onset diabetes of the young, type 11 | 613375 | C3150618 | OMIM | 1 | | 416 | 1057 | 191305 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CISD2 CL E G H | 493856 | 604928 | Wolfram syndrome 2 | 604928 | C1858028 | OMIM | 1 | | 71 | 24212 | 611507 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 118 | 9439 | 601184 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | FOXP3 CL E G H | 50943 | 304790 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 304790 | C0342288 | OMIM | 1 | | 443 | 6106 | 300292 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GATA6 CL E G H | 2627 | 600001 | Pancreatic agenesis and congenital heart disease | 600001 | C1838780 | OMIM | 1 | | 496 | 4174 | 601656 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GCK CL E G H | 2645 | 602485 | Hyperinsulinemic hypoglycemia familial 3 | 602485 | C1865290 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 947 | 4195 | 138079 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GJA1 CL E G H | 2697 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GJB3 CL E G H | 2707 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 195 | 4285 | 603324 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GJB4 CL E G H | 127534 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 86 | 4286 | 605425 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 644 | 4392 | 139320 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HLA-DQB1 CL E G H | 3119 | 703 | | | | ORPHA | 1 | | 18 | 4944 | 604305 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HLA-DRB1 CL E G H | 3123 | 703 | | | | ORPHA | 1 | | 41 | 4948 | 142857 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF1B CL E G H | 6928 | 261265 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 1 | | 697 | 11630 | 189907 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 1 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 140 | 18550 | 609382 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 926 | 5465 | 147370 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | INS CL E G H | 3630 | 125852 | Diabetes mellitus, insulin-dependent, 2 | 125852 | C1852092 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 185 | 6081 | 176730 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | INSR CL E G H | 3643 | 769 | | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 435 | 6257 | 600937 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KDSR CL E G H | 2531 | 317 | Sacral hemangiomas multiple congenital abnormalities | | | ORPHA | 1 | | 115 | 4021 | 136440 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LHX1 CL E G H | 3975 | 261265 | | | | ORPHA | 1 | | 140 | 6593 | 601999 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MAFA CL E G H | 389692 | 147630 | Islet cell adenomatosis | 147630 | C1578917 | OMIM | 1 | | 89 | 23145 | 610303 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MKKS CL E G H | 8195 | 605231 | Bardet-Biedl syndrome 6 | 605231 | C1858054 | OMIM | 1 | | 432 | 7108 | 604896 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDX1 CL E G H | 3651 | 260370 | Pancreatic agenesis, congenital | 260370 | C1850096 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 170 | 6107 | 600733 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 457 | 8979 | 171833 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRSS1 CL E G H | 5644 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PTF1A CL E G H | 256297 | 609069 | Diabetes mellitus, permanent neonatal, with cerebellar agenesis | 609069 | C1836780 | OMIM | 1 | | 119 | 23734 | 607194 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SARS2 CL E G H | 54938 | 613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 613845 | C3151209 | OMIM | 1 | | 256 | 17697 | 612804 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SLC29A3 CL E G H | 55315 | 602782 | Histiocytosis-lymphadenopathy plus syndrome | 602782 | C1864445 | OMIM | 1 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SPINK1 CL E G H | 6690 | 167800 | Hereditary pancreatitis | 167800 | C0238339 | OMIM | 1 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 1 | | 639 | 11364 | 102582 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TP53 CL E G H | 7157 | 1501 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | UBR1 CL E G H | 197131 | 243800 | Johanson-Blizzard syndrome | 243800 | C0175692 | OMIM | 1 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 158 | 12631 | 603158 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 129 | 12831 | 194363 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 252 | 13503 | 606025 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0000819 | Diabetes mellitus | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0004904 | Maturity-onset diabetes of the young | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0000831 | Insulin-resistant diabetes mellitus | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0009800 | Maternal diabetes | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0001953 | Diabetic ketoacidosis | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0005978 | Type II diabetes mellitus | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0100651 | Type I diabetes mellitus | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0000877 | Insulin-resistant diabetes mellitus at puberty | 2 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0008205 | Insulin-dependent but ketosis-resistant diabetes | 2 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 2 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CASR CL E G H | 846 | 676 | | | | ORPHA | 0 | | 2330 | 1514 | 601199 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CFTR CL E G H | 1080 | 676 | | | | ORPHA | 0 | | 4433 | 1884 | 602421 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CPA1 CL E G H | 1357 | 676 | | | | ORPHA | 0 | | 740 | 2296 | 114850 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | CTRC CL E G H | 11330 | 676 | | | | ORPHA | 0 | | 536 | 2523 | 601405 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 0 | | 208 | 3267 | 300161 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ELMO2 CL E G H | 63916 | 3019 | Intracranial aneurysms multiple congenital anomaly | | | ORPHA | 0 | | 57 | 17233 | 606421 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 966 | 3327 | 130160 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 0 | | 203 | 3801 | 602402 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 0 | | 158 | 3951 | 606829 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GATA3 CL E G H | 2625 | 2237 | | | | ORPHA | 0 | | 339 | 4172 | 131320 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HMGA2 CL E G H | 8091 | 94063 | | | | ORPHA | 0 | | 34 | 5009 | 600698 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | HNF4A CL E G H | 3172 | 616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 616026 | C4014962 | OMIM | 0 | | 509 | 5024 | 600281 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 0 | | 1170 | 18873 | 606951 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 0 | | 306 | 6008 | 147730 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LEMD3 CL E G H | 23592 | 94063 | | | | ORPHA | 0 | | 441 | 28887 | 607844 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 248 | 12744 | 605678 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PDE4D CL E G H | 5144 | 614613 | Acrodysostosis 2, with or without hormone resistance | 614613 | C3553250 | OMIM | 0 | | 475 | 8783 | 600129 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 0 | | 566 | 30802 | 609059 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 0 | | 156 | 24488 | 614783 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 0 | | 357 | 9180 | 604983 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 0 | | 65 | 18455 | 607002 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRSS1 CL E G H | 5644 | 676 | | | | ORPHA | 0 | | 738 | 9475 | 276000 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | PRSS2 CL E G H | 5645 | 676 | | | | ORPHA | 0 | | 29 | 9483 | 601564 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 0 | | 404 | 18518 | 606034 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 0 | | 426 | 25671 | 610326 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 0 | | 307 | 24116 | 610330 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 0 | | 746 | 15925 | 606754 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 0 | | 333 | 10990 | 103220 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | SPINK1 CL E G H | 6690 | 676 | | | | ORPHA | 0 | | 198 | 11244 | 167790 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 0 | | 418 | 12269 | 606609 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | UBR1 CL E G H | 197131 | 2315 | Fetal warfarin syndrome | | | ORPHA | 0 | | 350 | 16808 | 605981 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WFS1 CL E G H | 7466 | 614296 | Wolfram-like syndrome, autosomal dominant | 614296 | C3280358 | OMIM | 0 | | 1634 | 12762 | 606201 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0000819 | HP:0008255 | Transient neonatal diabetes mellitus | 3 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 2408 | 20761 | 612012 |