Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 2 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | 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:0006554 | HP:0006554 | Acute hepatic failure | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 1 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:616483 | INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 | | | | 25 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | 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:0006554 | HP:0006554 | Acute hepatic failure | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040284 - Very rare | | | 241 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0006554 | HP:0006554 | Acute hepatic failure | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0006554 | HP:0004448 | Fulminant hepatic failure | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0006554 | HP:0004787 | Fulminant hepatitis | 2 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0006554 | HP:0004787 | Fulminant hepatitis | 2 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0006554 | HP:0004787 | Fulminant hepatitis | 2 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0006554 | HP:0004787 | Fulminant hepatitis | 2 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |