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:0001394 | HP:0001394 | Cirrhosis | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | . | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | APC CL E G H | 324 | 583 | OMIM:114550 | Hepatocellular carcinoma | | | | 3179 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | . | | | 144 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | AXIN1 CL E G H | 8312 | 903 | OMIM:114550 | Hepatocellular carcinoma | | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BCS1L CL E G H | 617 | 1020 | ORPHA:53693 | GRACILE syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114550 | Hepatocellular carcinoma | | | | 37 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | . | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114550 | Hepatocellular carcinoma | | | | 88 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | F5 CL E G H | 2153 | 3542 | OMIM:600880 | Budd-Chiari syndrome | . | | | 159 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FECH CL E G H | 2235 | 3647 | ORPHA:79278 | Autosomal erythropoietic protoporphyria | HP:0040283 - Occasional | | | 145 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | HP:0040283 - Occasional | | | 17 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040283 - Occasional | | | 26 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IGF2R CL E G H | 3482 | 5467 | OMIM:114550 | Hepatocellular carcinoma | | | | 4 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 46 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:600880 | Budd-Chiari syndrome | . | | | 57 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040283 - Occasional | | | 70 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040283 - Occasional | | | 73 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | HP:0040283 - Occasional | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MET CL E G H | 4233 | 7029 | OMIM:114550 | Hepatocellular carcinoma | | | | 375 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040284 - Very rare | | | 81 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 133 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | . | | | 27 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114550 | Hepatocellular carcinoma | | | | 2 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 54 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | HP:0040283 - Occasional | | | 46 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114550 | Hepatocellular carcinoma | | | | 162 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | | | | 464 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 464 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040284 - Very rare | | | 42 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040284 - Very rare | | | 71 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | HP:0040283 - Occasional | | | 131 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 10 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 33 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC40A1 CL E G H | 30061 | 10909 | ORPHA:139491 | Hemochromatosis type 4 | HP:0040283 - Occasional | | | 56 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | HP:0040283 - Occasional | | | 48 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | . | | | 238 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 71 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114550 | Hepatocellular carcinoma | | | | 911 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 138 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001394 | HP:0001394 | Cirrhosis | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0001394 | HP:0011005 | Mixed cirrhosis | 1 | CL E G H | | | | | | | | | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040283 - Occasional | | | 90 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | APC CL E G H | 324 | 583 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3179 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | AXIN1 CL E G H | 8312 | 903 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:114550 | Hepatocellular carcinoma | . | | | 37 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114550 | Hepatocellular carcinoma | . | | | 88 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | IGF2R CL E G H | 3482 | 5467 | OMIM:114550 | Hepatocellular carcinoma | . | | | 4 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MET CL E G H | 4233 | 7029 | OMIM:114550 | Hepatocellular carcinoma | . | | | 375 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114550 | Hepatocellular carcinoma | . | | | 2 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114550 | Hepatocellular carcinoma | . | | | 162 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:114550 | Hepatocellular carcinoma | . | | | 911 | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | HP:0040283 - Occasional | | | 56 | | |
HP:0001394 | HP:0006577 | Macronodular cirrhosis | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001394 | HP:0001413 | Micronodular cirrhosis | 1 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |