Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 146 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | . | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040282 - Frequent | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | HP:0040281 - Very frequent | | | 62 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | HP:0040283 - Occasional | | | 72 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | HP:0040283 - Occasional | | | 72 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALG6 CL E G H | 29929 | 23157 | OMIM:603147 | Congenital disorder of glycosylation, type Ic | | | | 66 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | APOB CL E G H | 338 | 603 | OMIM:615558 | Hypobetalipoproteinemia, familial, 1 | | | | 356 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | | | | 81 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 144 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | 169 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BCAT2 CL E G H | 587 | 977 | OMIM:618850 | HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | HP:0040284 - Very rare | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 39 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 86 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040283 - Occasional | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | . | | | 67 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | . | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040282 - Frequent | | | 89 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040282 - Frequent | | | 1496 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040282 - Frequent | | | 25 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | HP:0040283 - Occasional | | | 55 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | HP:0040283 - Occasional | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040282 - Frequent | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FADD CL E G H | 8772 | 3573 | OMIM:613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | HP:0040283 - Occasional | | | 15 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | HP:0040283 - Occasional | | | 384 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 11 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GDF2 CL E G H | 2658 | 4217 | OMIM:615506 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 | | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GNMT CL E G H | 27232 | 4415 | OMIM:606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | . | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | . | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | GYS2 CL E G H | 2998 | 4707 | ORPHA:2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency | HP:0040283 - Occasional | | | 100 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | 15 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040280 - Obligate | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | | | | 138 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040281 - Very frequent | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | HP:0040283 - Occasional | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040283 - Occasional | | | 35 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | . | | | 56 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPL44 CL E G H | 65080 | 16650 | OMIM:615395 | Combined oxidative phosphorylation deficiency 16 | . | | | 13 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040282 - Frequent | | | 297 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:189800 | Preeclampsia/eclampsia 1 | . | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 14 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | | | | 59 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | . | | | 54 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | HP:0040283 - Occasional | | | 45 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 71 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040281 - Very frequent | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | . | | | 131 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC22A5 CL E G H | 6584 | 10969 | ORPHA:158 | Systemic primary carnitine deficiency | HP:0040281 - Very frequent | | | 207 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040283 - Occasional | | | 80 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040282 - Frequent | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 12 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | HP:0040283 - Occasional | | | 113 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | . | | | 17 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0002910 | HP:0002910 | Elevated hepatic transaminase | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | ALG6 CL E G H | 29929 | 23157 | OMIM:603147 | Congenital disorder of glycosylation, type Ic | . | | | 66 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | APOB CL E G H | 338 | 603 | OMIM:615558 | Hypobetalipoproteinemia, familial, 1 | | | | 356 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | APOB CL E G H | 338 | 603 | OMIM:615558 | Hypobetalipoproteinemia, familial, 1 | | | | 356 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002910 | HP:0200148 | Abnormal liver function tests during pregnancy | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | BCAT2 CL E G H | 587 | 977 | OMIM:618850 | HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0002910 | HP:0008150 | Elevated serum transaminases during infections | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | . | | | 39 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | FADD CL E G H | 8772 | 3573 | OMIM:613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | | | | 3 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MRPL44 CL E G H | 65080 | 16650 | OMIM:615395 | Combined oxidative phosphorylation deficiency 16 | | | | 13 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MRPL44 CL E G H | 65080 | 16650 | OMIM:615395 | Combined oxidative phosphorylation deficiency 16 | | | | 13 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SEMA7A CL E G H | 8482 | 10741 | OMIM:619874 | | | | | 5 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040284 - Very rare | | | 130 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040284 - Very rare | | | 130 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0002910 | HP:0031956 | Elevated circulating aspartate aminotransferase concentration | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0002910 | HP:0031964 | Elevated circulating alanine aminotransferase concentration | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |