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:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040283 - Occasional | | | 111 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3179 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | HP:0040283 - Occasional | | | 315 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | AXIN1 CL E G H | 8312 | 903 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114550 | Hepatocellular carcinoma | . | | | 37 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114550 | Hepatocellular carcinoma | . | | | 88 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | F5 CL E G H | 2153 | 3542 | OMIM:600880 | Budd-Chiari syndrome | . | | | 159 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040284 - Very rare | | | 580 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040284 - Very rare | | | 580 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | IGF2R CL E G H | 3482 | 5467 | OMIM:114550 | Hepatocellular carcinoma | . | | | 4 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 46 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 4 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:600880 | Budd-Chiari syndrome | . | | | 57 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MET CL E G H | 4233 | 7029 | OMIM:114550 | Hepatocellular carcinoma | . | | | 375 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114550 | Hepatocellular carcinoma | . | | | 2 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114550 | Hepatocellular carcinoma | . | | | 162 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040284 - Very rare | | | 41 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 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:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | . | | | 131 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040283 - Occasional | | | 82 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040284 - Very rare | | | 71 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040284 - Very rare | | | 110 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 71 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114550 | Hepatocellular carcinoma | . | | | 911 | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0001402 | HP:0001402 | Hepatocellular carcinoma | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |