Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | | | | 98 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | | | | 62 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | | | | 58 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | | | | 44 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | | | | 72 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | | | | 2 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | | | | 34 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | | | | 2 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | | | | 67 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | | | | 99 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | | | | 62 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | | | | 89 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | | | | 83 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 83 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | | | | 159 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FADD CL E G H | 8772 | 3573 | ORPHA:306550 | FADD-related immunodeficiency | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | | | | 107 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FECH CL E G H | 2235 | 3647 | ORPHA:79278 | Autosomal erythropoietic protoporphyria | | | | 145 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | | | | 145 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | | | | 301 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | | | | 6 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | | | | 580 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | | | | 26 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | | | | 57 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | | | | 54 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | | | | 51 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | | | | 12 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | | 36 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 31 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 65 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | | | | 77 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 77 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | | | | 369 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PCK2 CL E G H | 5106 | 8725 | OMIM:261650 | Phosphoenolpyruvate carboxykinase 2, mitochondrial | | | | 6 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | | | | 66 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614873 | Peroxisome biogenesis disorder 7B | | | | 106 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | | | | 464 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | | | | 45 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 40 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | | | | 131 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | | | | 164 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | | | | 3 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0025155 | HP:0025155 | Abnormality of hepatobiliary system physiology | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | | | | 98 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | | | | 62 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | | | | 44 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0025155 | HP:0006558 | Decreased mitochondrial complex III activity in liver tissue | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | . | | | 2 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | | | | 34 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | HP:0040281 - Very frequent | | | 2 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | | | | 67 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | | | | 99 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | . | | | 62 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | | | | 83 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 83 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | | | | 159 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FADD CL E G H | 8772 | 3573 | ORPHA:306550 | FADD-related immunodeficiency | HP:0040280 - Obligate | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | | | | 107 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0025155 | HP:0006582 | Reye syndrome-like episodes | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FECH CL E G H | 2235 | 3647 | ORPHA:79278 | Autosomal erythropoietic protoporphyria | HP:0040283 - Occasional | | | 145 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | | | | 145 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | | | | 301 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | HP:0040283 - Occasional | | | 6 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0025155 | HP:0006582 | Reye syndrome-like episodes | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | | | | 26 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | | | | 57 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LARS2 CL E G H | 23395 | 17095 | OMIM:617021 | Hydrops, lactic acidosis, and sideroblastic anemia | . | | | 54 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040282 - Frequent | | | 191 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040282 - Frequent | | | 51 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0025155 | HP:0006582 | Reye syndrome-like episodes | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | | | | 12 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0025155 | HP:0006582 | Reye syndrome-like episodes | 1 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040284 - Very rare | | | 36 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | | | | 77 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | | | | 77 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | | | | 369 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | HP:0040284 - Very rare | | | 14 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PCK2 CL E G H | 5106 | 8725 | OMIM:261650 | Phosphoenolpyruvate carboxykinase 2, mitochondrial | | | | 6 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX26 CL E G H | 55670 | 22965 | OMIM:614873 | Peroxisome biogenesis disorder 7B | . | | | 106 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0025155 | HP:0006558 | Decreased mitochondrial complex III activity in liver tissue | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | | | | 464 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | | | | 45 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | | | | 131 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0025155 | HP:0006558 | Decreased mitochondrial complex III activity in liver tissue | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | . | | | 4 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | . | | | 17 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0025155 | HP:0001410 | Decreased liver function | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040284 - Very rare | | | 169 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | | | | 1 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | HP:0040283 - Occasional | | | 34 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040284 - Very rare | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | HP:0040283 - Occasional | | | 83 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 83 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 60 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 32 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | | | | 159 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | | | | 107 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 4 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | | | | 8 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 46 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 4 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | | | | 57 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040282 - Frequent | | | 73 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040281 - Very frequent | | | 73 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | HP:0040283 - Occasional | | | 77 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 77 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | HP:0040281 - Very frequent | | | 369 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PCK2 CL E G H | 5106 | 8725 | OMIM:261650 | Phosphoenolpyruvate carboxykinase 2, mitochondrial | . | | | 6 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040284 - Very rare | | | 1200 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | HP:0040281 - Very frequent | | | 131 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 71 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0025155 | HP:0001399 | Hepatic failure | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0025155 | HP:0006583 | Fatal liver failure in infancy | 3 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040283 - Occasional | | | 67 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 2 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 41 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 1 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0025155 | HP:0006583 | Fatal liver failure in infancy | 3 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 241 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0025155 | HP:0100626 | Chronic hepatic failure | 3 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0025155 | HP:0006583 | Fatal liver failure in infancy | 3 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040283 - Occasional | | | | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0025155 | HP:0006554 | Acute hepatic failure | 3 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0004448 | Fulminant hepatic failure | 4 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0025155 | HP:0004787 | Fulminant hepatitis | 5 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0025155 | HP:0004787 | Fulminant hepatitis | 5 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0025155 | HP:0004787 | Fulminant hepatitis | 5 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0025155 | HP:0004787 | Fulminant hepatitis | 5 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |