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:0001397 | HP:0001397 | Hepatic steatosis | 0 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 749 | 89 | 607008 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 146 | 392 | 164731 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 1120 | 1550 | 613381 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 837 | 2328 | 600528 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 412 | 2594 | 107910 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PCK2 CL E G H | 5106 | 261650 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 261650 | C1849821 | OMIM | 1 | | 171 | 8725 | 614095 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 1 | | 244 | 10909 | 604653 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 129 | 12831 | 194363 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ABCG5 CL E G H | 64240 | 391665 | | | | ORPHA | 1 | | 605 | 13886 | 605459 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ABCG8 CL E G H | 64241 | 391665 | | | | ORPHA | 1 | | 659 | 13887 | 605460 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 291 | 21396 | 604780 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ACADL CL E G H | 33 | 99900 | | | | ORPHA | 1 | | 62 | 88 | 609576 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 749 | 89 | 607008 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 749 | 89 | 607008 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 749 | 89 | 607008 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 749 | 89 | 607008 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1594 | 92 | 609575 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 242 | 325 | 603100 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 146 | 392 | 164731 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 146 | 392 | 164731 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 146 | 392 | 164731 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 146 | 392 | 164731 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | APOB CL E G H | 338 | 391665 | | | | ORPHA | 1 | | 2916 | 603 | 107730 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | APOE CL E G H | 348 | 412 | | | | ORPHA | 1 | | 166 | 613 | 107741 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 407 | 868 | 300197 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 2303 | 870 | 606882 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 1120 | 1550 | 613381 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 1120 | 1550 | 613381 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 1120 | 1550 | 613381 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 1120 | 1550 | 613381 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 96 | 24229 | 612120 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 837 | 2328 | 600528 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 837 | 2328 | 600528 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 837 | 2328 | 600528 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 837 | 2328 | 600528 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 412 | 2594 | 107910 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 412 | 2594 | 107910 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 412 | 2594 | 107910 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 412 | 2594 | 107910 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 253 | 2728 | 602202 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 430 | 3481 | 608053 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 265 | 3482 | 130410 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 778 | 3483 | 231675 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 229 | 4799 | 601609 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 983 | 5213 | 601860 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LDLR CL E G H | 3949 | 391665 | | | | ORPHA | 1 | | 3819 | 6547 | 606945 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LDLRAP1 CL E G H | 26119 | 391665 | | | | ORPHA | 1 | | 436 | 18640 | 605747 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 144 | 6621 | 151750 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 79084 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 280365 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 436182 | | | | ORPHA | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | NSMCE2 CL E G H | 286053 | 617253 | Seckel syndrome 10 | 617253 | C4310647 | OMIM | 1 | | 121 | 26513 | 617246 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PCK2 CL E G H | 5106 | 261650 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 261650 | C1849821 | OMIM | 1 | | 171 | 8725 | 614095 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PCK2 CL E G H | 5106 | 261650 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 261650 | C1849821 | OMIM | 1 | | 171 | 8725 | 614095 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PCK2 CL E G H | 5106 | 261650 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 261650 | C1849821 | OMIM | 1 | | 171 | 8725 | 614095 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PCK2 CL E G H | 5106 | 261650 | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 261650 | C1849821 | OMIM | 1 | | 171 | 8725 | 614095 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PCSK9 CL E G H | 255738 | 391665 | | | | ORPHA | 1 | | 1000 | 20001 | 607786 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PLIN1 CL E G H | 5346 | 613877 | Familial partial lipodystrophy 4 | 613877 | C3151268 | OMIM | 1 | | 138 | 9076 | 170290 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 655 | 10983 | 603859 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 1 | | 244 | 10909 | 604653 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 1 | | 244 | 10909 | 604653 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 1 | | 244 | 10909 | 604653 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | SLC40A1 CL E G H | 30061 | 139491 | | | | ORPHA | 1 | | 244 | 10909 | 604653 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | TARS2 CL E G H | 80222 | 615918 | Combined oxidative phosphorylation deficiency 21 | 615918 | C4014668 | OMIM | 1 | | 241 | 30740 | 612805 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 129 | 12831 | 194363 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 129 | 12831 | 194363 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 129 | 12831 | 194363 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | XRCC4 CL E G H | 7518 | 436182 | | | | ORPHA | 1 | | 129 | 12831 | 194363 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | CEP19 CL E G H | 84984 | 615703 | Morbid obesity and spermatogenic failure | 615703 | C3810324 | OMIM | 0 | | 202 | 28209 | 615586 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | LMNB2 CL E G H | 84823 | 79087 | | | | ORPHA | 0 | | 548 | 6638 | 150341 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 0 | | 82 | 18085 | 616815 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0001397 | Hepatic steatosis | 0 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 242 | 325 | 603100 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 0 | | 5525 | 428 | 606844 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 510 | 15832 | 606158 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 135 | 1527 | 601047 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 128 | 9688 | 603198 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | CEP19 CL E G H | 84984 | 615703 | Morbid obesity and spermatogenic failure | 615703 | C3810324 | OMIM | 0 | | 202 | 28209 | 615586 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | CEP19 CL E G H | 84984 | 615703 | Morbid obesity and spermatogenic failure | 615703 | C3810324 | OMIM | 0 | | 202 | 28209 | 615586 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | CEP19 CL E G H | 84984 | 615703 | Morbid obesity and spermatogenic failure | 615703 | C3810324 | OMIM | 0 | | 202 | 28209 | 615586 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | CEP19 CL E G H | 84984 | 615703 | Morbid obesity and spermatogenic failure | 615703 | C3810324 | OMIM | 0 | | 202 | 28209 | 615586 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 40 | 3796 | 164810 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNA CL E G H | 4000 | 2348 | | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | LMNB2 CL E G H | 84823 | 79087 | | | | ORPHA | 0 | | 548 | 6638 | 150341 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | LMNB2 CL E G H | 84823 | 79087 | | | | ORPHA | 0 | | 548 | 6638 | 150341 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | LMNB2 CL E G H | 84823 | 79087 | | | | ORPHA | 0 | | 548 | 6638 | 150341 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | LMNB2 CL E G H | 84823 | 79087 | | | | ORPHA | 0 | | 548 | 6638 | 150341 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 79083 | | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 0 | | 166 | 9236 | 601487 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 0 | | 140 | 10535 | 607690 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 0 | | 82 | 18085 | 616815 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 0 | | 82 | 18085 | 616815 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 0 | | 82 | 18085 | 616815 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 0 | | 82 | 18085 | 616815 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 0 | | 983 | 25751 | 614138 |
HP:0001397 | HP:0006555 | Diffuse hepatic steatosis | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001397 | HP:0006573 | Acute hepatic steatosis | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001397 | HP:0001414 | Microvesicular hepatic steatosis | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001397 | HP:0001403 | Macrovesicular hepatic steatosis | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |