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:0001394 | HP:0001394 | Cirrhosis | 0 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 1145 | 42 | 603201 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 225 | 388 | 604741 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | APOE CL E G H | 348 | 269600 | Sea-blue histiocyte syndrome | 269600 | C0036489 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 686 | 758 | 603470 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP8B1 CL E G H | 5205 | 211600 | Progressive intrahepatic cholestasis | 211600 | C0268312 | OMIM | 1 | | 571 | 3706 | 602397 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CCDC115 CL E G H | 84317 | 616828 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | 616828 | C4225191 | OMIM | 1 | | 87 | 28178 | 613734 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 601 | 3542 | 612309 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 784 | 4180 | 607839 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL21R CL E G H | 50615 | 615207 | IL21R immunodeficiency | 615207 | C3554687 | OMIM | 1 | | 362 | 6006 | 605383 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1605 | 6188 | 601920 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 412 | 6192 | 147796 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | KRT18 CL E G H | 3875 | 118900 | Familial cirrhosis | 118900 | C1861556 | OMIM | 1 | | 45 | 6430 | 148070 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 105 | 7967 | 603826 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SFTPA2 CL E G H | 729238 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 68 | 10799 | 178642 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SFTPC CL E G H | 6440 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 215 | 10802 | 178620 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SKIV2L CL E G H | 6499 | 614602 | Trichohepatoenteric syndrome 2 | 614602 | C3281289 | OMIM | 1 | | | 10898 | 600478 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TALDO1 CL E G H | 6888 | 101028 | | | | ORPHA | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 78 | 11741 | 600438 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 220 | 23141 | 611023 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | UROD CL E G H | 7389 | 176100 | Familial porphyria cutanea tarda | 176100 | C0268323 | OMIM | 1 | | 121 | 12591 | 613521 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 1145 | 42 | 603201 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 1145 | 42 | 603201 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 1145 | 42 | 603201 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ACVRL1 CL E G H | 94 | 600376 | Hereditary hemorrhagic telangiectasia type 2 | 600376 | C1838163 | OMIM | 1 | | 888 | 175 | 601284 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 225 | 388 | 604741 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 225 | 388 | 604741 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 225 | 388 | 604741 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | APOE CL E G H | 348 | 269600 | Sea-blue histiocyte syndrome | 269600 | C0036489 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | APOE CL E G H | 348 | 269600 | Sea-blue histiocyte syndrome | 269600 | C0036489 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | APOE CL E G H | 348 | 269600 | Sea-blue histiocyte syndrome | 269600 | C0036489 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 686 | 758 | 603470 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 686 | 758 | 603470 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 686 | 758 | 603470 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ATP8B1 CL E G H | 5205 | 211600 | Progressive intrahepatic cholestasis | 211600 | C0268312 | OMIM | 1 | | 571 | 3706 | 602397 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ATP8B1 CL E G H | 5205 | 211600 | Progressive intrahepatic cholestasis | 211600 | C0268312 | OMIM | 1 | | 571 | 3706 | 602397 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ATP8B1 CL E G H | 5205 | 211600 | Progressive intrahepatic cholestasis | 211600 | C0268312 | OMIM | 1 | | 571 | 3706 | 602397 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CCDC115 CL E G H | 84317 | 616828 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | 616828 | C4225191 | OMIM | 1 | | 87 | 28178 | 613734 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CCDC115 CL E G H | 84317 | 616828 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | 616828 | C4225191 | OMIM | 1 | | 87 | 28178 | 613734 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CCDC115 CL E G H | 84317 | 616828 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | 616828 | C4225191 | OMIM | 1 | | 87 | 28178 | 613734 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 415 | 2652 | 603711 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ENG CL E G H | 2022 | 187300 | Osler hemorrhagic telangiectasia syndrome | 187300 | C0039445 | OMIM | 1 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 601 | 3542 | 612309 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 601 | 3542 | 612309 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 601 | 3542 | 612309 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 784 | 4180 | 607839 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 784 | 4180 | 607839 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 784 | 4180 | 607839 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | IL21R CL E G H | 50615 | 615207 | IL21R immunodeficiency | 615207 | C3554687 | OMIM | 1 | | 362 | 6006 | 605383 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IL21R CL E G H | 50615 | 615207 | IL21R immunodeficiency | 615207 | C3554687 | OMIM | 1 | | 362 | 6006 | 605383 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | IL21R CL E G H | 50615 | 615207 | IL21R immunodeficiency | 615207 | C3554687 | OMIM | 1 | | 362 | 6006 | 605383 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1605 | 6188 | 601920 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1605 | 6188 | 601920 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1605 | 6188 | 601920 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 412 | 6192 | 147796 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 412 | 6192 | 147796 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 412 | 6192 | 147796 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | KRT18 CL E G H | 3875 | 118900 | Familial cirrhosis | 118900 | C1861556 | OMIM | 1 | | 45 | 6430 | 148070 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | KRT18 CL E G H | 3875 | 118900 | Familial cirrhosis | 118900 | C1861556 | OMIM | 1 | | 45 | 6430 | 148070 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | KRT18 CL E G H | 3875 | 118900 | Familial cirrhosis | 118900 | C1861556 | OMIM | 1 | | 45 | 6430 | 148070 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 105 | 7967 | 603826 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 105 | 7967 | 603826 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 105 | 7967 | 603826 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SFTPA2 CL E G H | 729238 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 68 | 10799 | 178642 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SFTPA2 CL E G H | 729238 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 68 | 10799 | 178642 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SFTPA2 CL E G H | 729238 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 68 | 10799 | 178642 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SFTPC CL E G H | 6440 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 215 | 10802 | 178620 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SFTPC CL E G H | 6440 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 215 | 10802 | 178620 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SFTPC CL E G H | 6440 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 215 | 10802 | 178620 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SKIV2L CL E G H | 6499 | 614602 | Trichohepatoenteric syndrome 2 | 614602 | C3281289 | OMIM | 1 | | | 10898 | 600478 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SKIV2L CL E G H | 6499 | 614602 | Trichohepatoenteric syndrome 2 | 614602 | C3281289 | OMIM | 1 | | | 10898 | 600478 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SKIV2L CL E G H | 6499 | 614602 | Trichohepatoenteric syndrome 2 | 614602 | C3281289 | OMIM | 1 | | | 10898 | 600478 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TALDO1 CL E G H | 6888 | 101028 | | | | ORPHA | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TALDO1 CL E G H | 6888 | 101028 | | | | ORPHA | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TALDO1 CL E G H | 6888 | 101028 | | | | ORPHA | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TERT CL E G H | 7015 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TERT CL E G H | 7015 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TERT CL E G H | 7015 | 178500 | Idiopathic fibrosing alveolitis, chronic form | 178500 | C1800706 | OMIM | 1 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 78 | 11741 | 600438 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 78 | 11741 | 600438 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 78 | 11741 | 600438 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 220 | 23141 | 611023 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 220 | 23141 | 611023 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 220 | 23141 | 611023 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | UROD CL E G H | 7389 | 176100 | Familial porphyria cutanea tarda | 176100 | C0268323 | OMIM | 1 | | 121 | 12591 | 613521 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | UROD CL E G H | 7389 | 176100 | Familial porphyria cutanea tarda | 176100 | C0268323 | OMIM | 1 | | 121 | 12591 | 613521 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | UROD CL E G H | 7389 | 176100 | Familial porphyria cutanea tarda | 176100 | C0268323 | OMIM | 1 | | 121 | 12591 | 613521 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 0 | | 111 | 20134 | 609588 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HJV CL E G H | 148738 | 602390 | Hemochromatosis type 2A | 602390 | C1865614 | OMIM | 0 | | 470 | 4887 | 608374 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 0 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IFT43 CL E G H | 112752 | 614099 | Cranioectodermal dysplasia 3 | 614099 | C3279807 | OMIM | 0 | | 257 | 29669 | 614068 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 0 | | 357 | 6518 | 600024 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LIPA CL E G H | 3988 | 75234 | Cholesteryl ester storage disease | | C0008384 | ORPHA | 0 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 0 | | | 6898 | 156560 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 0 | | 483 | 8957 | 311770 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 0 | | 423 | 8941 | 107400 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 0 | | 244 | 10909 | 604653 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 0 | | 111 | 20134 | 609588 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 0 | | 111 | 20134 | 609588 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 0 | | 111 | 20134 | 609588 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 0 | | 237 | 4886 | 613609 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HJV CL E G H | 148738 | 602390 | Hemochromatosis type 2A | 602390 | C1865614 | OMIM | 0 | | 470 | 4887 | 608374 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HJV CL E G H | 148738 | 602390 | Hemochromatosis type 2A | 602390 | C1865614 | OMIM | 0 | | 470 | 4887 | 608374 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HJV CL E G H | 148738 | 602390 | Hemochromatosis type 2A | 602390 | C1865614 | OMIM | 0 | | 470 | 4887 | 608374 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 0 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 0 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 0 | | 139 | 18324 | 607764 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | IFT43 CL E G H | 112752 | 614099 | Cranioectodermal dysplasia 3 | 614099 | C3279807 | OMIM | 0 | | 257 | 29669 | 614068 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IFT43 CL E G H | 112752 | 614099 | Cranioectodermal dysplasia 3 | 614099 | C3279807 | OMIM | 0 | | 257 | 29669 | 614068 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | IFT43 CL E G H | 112752 | 614099 | Cranioectodermal dysplasia 3 | 614099 | C3279807 | OMIM | 0 | | 257 | 29669 | 614068 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 0 | | 357 | 6518 | 600024 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 0 | | 357 | 6518 | 600024 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | LBR CL E G H | 3930 | 779 | Arthrogryposis due to muscular dystrophy | | | ORPHA | 0 | | 357 | 6518 | 600024 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | LIPA CL E G H | 3988 | 75234 | Cholesteryl ester storage disease | | C0008384 | ORPHA | 0 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | LIPA CL E G H | 3988 | 75234 | Cholesteryl ester storage disease | | C0008384 | ORPHA | 0 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | LIPA CL E G H | 3988 | 75234 | Cholesteryl ester storage disease | | C0008384 | ORPHA | 0 | | 561 | 6617 | 613497 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 0 | | | 6898 | 156560 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 0 | | | 6898 | 156560 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 0 | | | 6898 | 156560 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 0 | | 483 | 8957 | 311770 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 0 | | 483 | 8957 | 311770 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 0 | | 483 | 8957 | 311770 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 0 | | 423 | 8941 | 107400 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 0 | | 423 | 8941 | 107400 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 0 | | 423 | 8941 | 107400 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 0 | | 244 | 10909 | 604653 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 0 | | 244 | 10909 | 604653 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 0 | | 244 | 10909 | 604653 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |