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:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 37 | 67 | 170995 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 28 | 67 | 170995 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 291 | 868 | 300197 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 262 | 868 | 300197 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 3706 | 602397 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | C8orf37 CL E G H | 157657 | 617406 | Bardet-Biedl syndrome 21 | 617406 | C4319932 | OMIM | 1 | | | 27232 | 614477 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 272 | 1633 | 107265 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 223 | 1633 | 107265 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 107 | 1701 | 186845 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 77 | 1701 | 186845 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 211 | 18622 | 606978 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 254 | 18622 | 606978 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 453 | 2336 | 120650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 358 | 2336 | 120650 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 100 | 2579 | 123980 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 94 | 2579 | 123980 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 187 | 18141 | 605755 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 172 | 18141 | 605755 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 179 | 2728 | 602202 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 154 | 2728 | 602202 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DHDDS CL E G H | 79947 | 613861 | Retinitis pigmentosa 59 | 613861 | C3151227 | OMIM | 1 | | 199 | 20603 | 608172 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DHDDS CL E G H | 79947 | 613861 | Retinitis pigmentosa 59 | 613861 | C3151227 | OMIM | 1 | | 256 | 20603 | 608172 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 355 | 2898 | 238331 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 329 | 2898 | 238331 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DMD CL E G H | 1756 | 98895 | | | | ORPHA | 1 | | 5601 | 2928 | 300377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DMD CL E G H | 1756 | 98895 | | | | ORPHA | 1 | | 6395 | 2928 | 300377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 78 | 30528 | 608977 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 95 | 30528 | 608977 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 188 | 3005 | 603503 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 156 | 3005 | 603503 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 123 | 3006 | 603564 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 113 | 3006 | 603564 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 263494 | | | | ORPHA | 1 | | 59 | 3007 | 605951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 263494 | | | | ORPHA | 1 | | 50 | 3007 | 605951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 50 | 3007 | 605951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 612937 | Congenital disorder of glycosylation type 1O | 612937 | C2752007 | OMIM | 1 | | 59 | 3007 | 605951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 296 | 3255 | 604032 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 178 | 3255 | 604032 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 538 | 3436 | 133520 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 469 | 3436 | 133520 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 453 | 3542 | 612309 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 449 | 3542 | 612309 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 441 | 3579 | 613871 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 417 | 3579 | 613871 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FOS CL E G H | 2353 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 29 | 3796 | 164810 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 1 | | 68 | 20134 | 609588 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 1 | | 60 | 20134 | 609588 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 682 | 23657 | 603824 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 604 | 23657 | 603824 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNMT CL E G H | 27232 | 606664 | Glycine N-methyltransferase deficiency | 606664 | C1847720 | OMIM | 1 | | 60 | 4415 | 606628 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNMT CL E G H | 27232 | 606664 | Glycine N-methyltransferase deficiency | 606664 | C1847720 | OMIM | 1 | | 44 | 4415 | 606628 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 69 | 4455 | 138420 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 52 | 4455 | 138420 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 122 | 4492 | 602646 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 115 | 4492 | 602646 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 156 | 4799 | 601609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 1 | | 137 | 4799 | 601609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 527 | 4801 | 600890 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 477 | 4801 | 600890 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 213 | 4803 | 143450 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 242 | 4803 | 143450 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 52 | 15598 | 606464 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 61 | 15598 | 606464 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 52 | 15598 | 606464 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 61 | 15598 | 606464 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 157 | 4886 | 613609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 149 | 4886 | 613609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 369 | 4887 | 608374 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 338 | 4887 | 608374 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1A CL E G H | 6927 | 324575 | | | | ORPHA | 1 | | 529 | 11621 | 142410 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1A CL E G H | 6927 | 324575 | | | | ORPHA | 1 | | 452 | 11621 | 142410 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1B CL E G H | 6928 | 137920 | Familial hypoplastic, glomerulocystic kidney | 137920 | C0431693 | OMIM | 1 | | 545 | 11630 | 189907 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1B CL E G H | 6928 | 137920 | Familial hypoplastic, glomerulocystic kidney | 137920 | C0431693 | OMIM | 1 | | 579 | 11630 | 189907 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF4A CL E G H | 3172 | 263455 | Hyperinsulinism due to HNF4A deficiency | | CN202290 | ORPHA | 1 | | 403 | 5024 | 600281 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF4A CL E G H | 3172 | 263455 | Hyperinsulinism due to HNF4A deficiency | | CN202290 | ORPHA | 1 | | 363 | 5024 | 600281 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 102 | 18324 | 607764 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 109 | 18324 | 607764 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 109 | 18324 | 607764 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 607765 | Bile acid synthesis defect, congenital, 1 | 607765 | C1843116 | OMIM | 1 | | 102 | 18324 | 607764 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ICOS CL E G H | 29851 | 1572 | | | | ORPHA | 1 | | 154 | 5351 | 604558 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ICOS CL E G H | 29851 | 1572 | | | | ORPHA | 1 | | 137 | 5351 | 604558 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 718 | 18873 | 606951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 476 | 18873 | 606951 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFT172 CL E G H | 26160 | 616394 | Retinitis pigmentosa 71 | 616394 | C4225342 | OMIM | 1 | | 805 | 30391 | 607386 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFT172 CL E G H | 26160 | 616394 | Retinitis pigmentosa 71 | 616394 | C4225342 | OMIM | 1 | | 587 | 30391 | 607386 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 906 | 6188 | 601920 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 1 | | 1068 | 6188 | 601920 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 273 | 6192 | 147796 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 1 | | 264 | 6192 | 147796 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 256 | 6518 | 600024 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 225 | 6518 | 600024 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 90 | 29569 | 610284 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 73 | 29569 | 610284 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 170 | 7224 | 137960 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 155 | 7224 | 137960 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 79 | 10379 | 607118 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL3 CL E G H | 11222 | 614582 | Combined oxidative phosphorylation deficiency 9 | 614582 | C3281234 | OMIM | 1 | | 74 | 10379 | 607118 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 100 | 16650 | 611849 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL44 CL E G H | 65080 | 615395 | Combined oxidative phosphorylation deficiency 16 | 615395 | C3809339 | OMIM | 1 | | 80 | 16650 | 611849 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 69 | 14048 | 609204 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 60 | 14048 | 609204 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MS4A1 CL E G H | 931 | 1572 | | | | ORPHA | 1 | | 62 | 7315 | 112210 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MS4A1 CL E G H | 931 | 1572 | | | | ORPHA | 1 | | 28 | 7315 | 112210 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 17 | 7380 | 142408 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 16 | 7380 | 142408 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MVK CL E G H | 4598 | 610377 | Mevalonic aciduria | 610377 | C1959626 | OMIM | 1 | | 371 | 7530 | 251170 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MVK CL E G H | 4598 | 610377 | Mevalonic aciduria | 610377 | C1959626 | OMIM | 1 | | 401 | 7530 | 251170 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NBAS CL E G H | 51594 | 616483 | Infantile liver failure syndrome 2 | 616483 | C3809651 | OMIM | 1 | | 915 | 15625 | 608025 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NBAS CL E G H | 51594 | 616483 | Infantile liver failure syndrome 2 | 616483 | C3809651 | OMIM | 1 | | 367 | 15625 | 608025 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB1 CL E G H | 4790 | 1572 | | | | ORPHA | 1 | | 266 | 7794 | 164011 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB1 CL E G H | 4790 | 1572 | | | | ORPHA | 1 | | 171 | 7794 | 164011 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB2 CL E G H | 4791 | 1572 | | | | ORPHA | 1 | | 317 | 7795 | 164012 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB2 CL E G H | 4791 | 1572 | | | | ORPHA | 1 | | 248 | 7795 | 164012 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 83 | 7967 | 603826 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NR1H4 CL E G H | 9971 | 617049 | Cholestasis, progressive familial intrahepatic, 5 | 617049 | C4310747 | OMIM | 1 | | 81 | 7967 | 603826 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 96 | 8104 | 602876 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 88 | 8104 | 602876 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 234 | 8855 | 601789 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 342 | 8855 | 601789 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 249 | 9713 | 600279 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 181 | 9713 | 600279 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 232 | 8905 | 171900 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 260 | 8905 | 171900 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKA2 CL E G H | 5256 | 306000 | Glycogen storage disease type IXa1 | 306000 | C0017927 | OMIM | 1 | | 465 | 8926 | 300798 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKA2 CL E G H | 5256 | 306000 | Glycogen storage disease type IXa1 | 306000 | C0017927 | OMIM | 1 | | 429 | 8926 | 300798 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 156 | 8931 | 172471 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 148 | 8931 | 172471 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 542 | 9115 | 601785 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 491 | 9115 | 601785 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 334 | 30802 | 609059 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 391 | 30802 | 609059 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 334 | 30802 | 609059 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 391 | 30802 | 609059 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3124 | 9175 | 174761 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 2782 | 9175 | 174761 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 124 | 9236 | 601487 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PPARG CL E G H | 5468 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 108 | 9236 | 601487 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKCD CL E G H | 5580 | 1572 | | | | ORPHA | 1 | | 277 | 9399 | 176977 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKCD CL E G H | 5580 | 1572 | | | | ORPHA | 1 | | 225 | 9399 | 176977 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 84 | 9541 | 602177 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 32 | 9541 | 602177 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 136 | 9545 | 177046 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 121 | 9545 | 177046 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB9 CL E G H | 5698 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 14 | 9546 | 177045 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 259 | 18518 | 606034 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 186 | 18518 | 606034 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 259 | 18518 | 606034 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 186 | 18518 | 606034 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 272 | 25671 | 610326 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 197 | 25671 | 610326 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 191 | 24116 | 610330 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 147 | 24116 | 610330 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 147 | 24116 | 610330 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 191 | 24116 | 610330 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 272 | 17296 | 604712 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 261 | 17296 | 604712 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 454 | 15925 | 606754 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 329 | 15925 | 606754 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 1 | | 82 | 10535 | 607690 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 1 | | 58 | 10535 | 607690 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 89 | 19440 | 607444 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 82 | 19440 | 607444 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 333 | 8941 | 107400 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SERPINA1 CL E G H | 5265 | 613490 | Alpha-1-antitrypsin deficiency | 613490 | C0221757 | OMIM | 1 | | 325 | 8941 | 107400 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 158 | | | | ORPHA | 1 | | 733 | 10969 | 603377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 158 | | | | ORPHA | 1 | | 626 | 10969 | 603377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 733 | 10969 | 603377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 626 | 10969 | 603377 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 451 | 10983 | 603859 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A13 CL E G H | 10165 | 603471 | Citrullinemia type II | 603471 | C1863844 | OMIM | 1 | | 393 | 10983 | 603859 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 134 | 1421 | 613698 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 118 | 1421 | 613698 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 212138 | Carnitine acylcarnitine translocase deficiency | 212138 | C0342791 | OMIM | 1 | | 118 | 1421 | 613698 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 212138 | Carnitine acylcarnitine translocase deficiency | 212138 | C0342791 | OMIM | 1 | | 134 | 1421 | 613698 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 167 | 25355 | 611146 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 139 | 25355 | 611146 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 167 | 25355 | 611146 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 139 | 25355 | 611146 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 768 | 4061 | 602671 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 720 | 4061 | 602671 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 189 | 25812 | 611715 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 173 | 25812 | 611715 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 97 | 11301 | 604857 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 71 | 11301 | 604857 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 41 | 24592 | 609671 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 37 | 24592 | 609671 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 550 | 25439 | 616830 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 480 | 25439 | 616830 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 812 | 11634 | 602272 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 756 | 11634 | 602272 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 54 | 11741 | 600438 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 436 | 11762 | 604720 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 409 | 11762 | 604720 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM165 CL E G H | 55858 | 614727 | Congenital disorder of glycosylation type 2k | 614727 | C3553571 | OMIM | 1 | | 91 | 30760 | 614726 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM165 CL E G H | 55858 | 614727 | Congenital disorder of glycosylation type 2k | 614727 | C3553571 | OMIM | 1 | | 108 | 30760 | 614726 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 569 | 28396 | 609884 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 402 | 28396 | 609884 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 569 | 28396 | 609884 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 402 | 28396 | 609884 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13B CL E G H | 23495 | 1572 | | | | ORPHA | 1 | | 322 | 18153 | 604907 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13B CL E G H | 23495 | 1572 | | | | ORPHA | 1 | | 284 | 18153 | 604907 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13C CL E G H | 115650 | 1572 | | | | ORPHA | 1 | | 125 | 17755 | 606269 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13C CL E G H | 115650 | 1572 | | | | ORPHA | 1 | | 101 | 17755 | 606269 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFSF12 CL E G H | 8742 | 1572 | | | | ORPHA | 1 | | 131 | 11927 | 602695 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFSF12 CL E G H | 8742 | 1572 | | | | ORPHA | 1 | | 94 | 11927 | 602695 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 1 | | 673 | 25751 | 614138 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 1 | | 573 | 25751 | 614138 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 289 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 198 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 198 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 289 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 198 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 289 | 12269 | 606609 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 27 | 26022 | 615423 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 21 | 26022 | 615423 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 431 | 25481 | 610230 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 448 | 25481 | 610230 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 665 | 3148 | 131222 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 550 | 3148 | 131222 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 161 | 12586 | 191329 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 179 | 12586 | 191329 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VIPAS39 CL E G H | 63894 | 613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | C3150672 | OMIM | 1 | | 160 | 20347 | 613401 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VIPAS39 CL E G H | 63894 | 613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 | C3150672 | OMIM | 1 | | 161 | 20347 | 613401 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 263 | 12712 | 608552 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS33B CL E G H | 26276 | 208085 | Arthrogryposis renal dysfunction cholestasis syndrome | 208085 | C1859722 | OMIM | 1 | | 272 | 12712 | 608552 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | WDR35 CL E G H | 57539 | 613610 | Cranioectodermal dysplasia 2 | 613610 | C3150874 | OMIM | 1 | | 474 | 29250 | 613602 |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | WDR35 CL E G H | 57539 | 613610 | Cranioectodermal dysplasia 2 | 613610 | C3150874 | OMIM | 1 | | 401 | 29250 | 613602 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 425 | 45 | 171060 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCB4 CL E G H | 5244 | 602347 | Progressive familial intrahepatic cholestasis 3 | 602347 | C1865643 | OMIM | 1 | | 412 | 45 | 171060 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 37 | 67 | 170995 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 37 | 67 | 170995 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 28 | 67 | 170995 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 28 | 67 | 170995 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 37 | 67 | 170995 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 37 | 67 | 170995 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 28 | 67 | 170995 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 28 | 67 | 170995 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 427 | 21497 | 611103 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 478 | 21497 | 611103 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 491 | 89 | 607008 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 559 | 89 | 607008 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 73 | 257 | 102750 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 79 | 257 | 102750 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 203 | 325 | 603100 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 205 | 325 | 603100 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 79303 | | | | ORPHA | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 206 | 388 | 604741 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AKR1D1 CL E G H | 6718 | 235555 | Bile acid synthesis defect, congenital, 2 | 235555 | C1856127 | OMIM | 1 | | 202 | 388 | 604741 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | AMACR CL E G H | 23600 | 214950 | Bile acid synthesis defect, congenital, 4 | 214950 | C1858328 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 291 | 868 | 300197 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 291 | 868 | 300197 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 262 | 868 | 300197 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 262 | 868 | 300197 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 291 | 868 | 300197 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 291 | 868 | 300197 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 262 | 868 | 300197 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 300972 | Immunodeficiency 47 | 300972 | C4310819 | OMIM | 1 | | 262 | 868 | 300197 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 3706 | 602397 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 3706 | 602397 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 494 | 3706 | 602397 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 3706 | 602397 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ATP8B1 CL E G H | 5205 | 147480 | Cholestasis of pregnancy | 147480 | C0268318 | OMIM | 1 | | 496 | 3706 | 602397 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | C8orf37 CL E G H | 157657 | 617406 | Bardet-Biedl syndrome 21 | 617406 | C4319932 | OMIM | 1 | | | 27232 | 614477 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | C8orf37 CL E G H | 157657 | 617406 | Bardet-Biedl syndrome 21 | 617406 | C4319932 | OMIM | 1 | | | 27232 | 614477 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | C8orf37 CL E G H | 157657 | 617406 | Bardet-Biedl syndrome 21 | 617406 | C4319932 | OMIM | 1 | | | 27232 | 614477 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | C8orf37 CL E G H | 157657 | 617406 | Bardet-Biedl syndrome 21 | 617406 | C4319932 | OMIM | 1 | | | 27232 | 614477 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 109 | 9688 | 603198 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 110 | 9688 | 603198 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 272 | 1633 | 107265 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 272 | 1633 | 107265 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 223 | 1633 | 107265 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 223 | 1633 | 107265 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 272 | 1633 | 107265 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 272 | 1633 | 107265 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 223 | 1633 | 107265 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CD19 CL E G H | 930 | 1572 | | | | ORPHA | 1 | | 223 | 1633 | 107265 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 107 | 1701 | 186845 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 107 | 1701 | 186845 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 77 | 1701 | 186845 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 77 | 1701 | 186845 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 107 | 1701 | 186845 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 107 | 1701 | 186845 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 77 | 1701 | 186845 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CD81 CL E G H | 975 | 1572 | | | | ORPHA | 1 | | 77 | 1701 | 186845 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 159 | 6546 | 606974 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG2 CL E G H | 22796 | 617395 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | 617395 | C4479353 | OMIM | 1 | | 147 | 6546 | 606974 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 211 | 18622 | 606978 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 211 | 18622 | 606978 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 254 | 18622 | 606978 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 254 | 18622 | 606978 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 211 | 18622 | 606978 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 211 | 18622 | 606978 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 254 | 18622 | 606978 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 254 | 18622 | 606978 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 503 | 2328 | 600528 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 452 | 2328 | 600528 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 600649 | Carnitine palmitoyltransferase II deficiency, infantile | 600649 | C1833511 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 505 | 2330 | 600650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CPT2 CL E G H | 1376 | 608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | 608836 | C1833518 | OMIM | 1 | | 618 | 2330 | 600650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 453 | 2336 | 120650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 453 | 2336 | 120650 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 358 | 2336 | 120650 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 358 | 2336 | 120650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 453 | 2336 | 120650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 453 | 2336 | 120650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 358 | 2336 | 120650 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CR2 CL E G H | 1380 | 1572 | | | | ORPHA | 1 | | 358 | 2336 | 120650 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 94 | 2579 | 123980 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 94 | 2579 | 123980 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 100 | 2579 | 123980 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 100 | 2579 | 123980 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 94 | 2579 | 123980 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 94 | 2579 | 123980 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 100 | 2579 | 123980 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 100 | 2579 | 123980 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 295 | 2652 | 603711 |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | CYP7B1 CL E G H | 9420 | 613812 | Bile acid synthesis defect, congenital, 3 | 613812 | C3151147 | OMIM | 1 | | 239 | 2652 | 603711 |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | CYP7B1 CL E G H | 9420 | |