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:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | | | | 146 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | | | | 146 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 146 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 111 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCC2 CL E G H | 1244 | 53 | OMIM:237500 | DUBIN-JOHNSON syndrome | | | | 119 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | | | | 119 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 144 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | | | | 72 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GPX1 CL E G H | 2876 | 4553 | OMIM:614164 | Glutathione peroxidase deficiency | | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GSR CL E G H | 2936 | 4623 | OMIM:618660 | HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY | | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | | | | 125 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 14 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | | | | 231 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | | | | 45 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:268150 | Anemia, hemolytic, Rh-null, Regulator type | | | | 13 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | | | | 137 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 52 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLCO1B1 CL E G H | 10599 | 10959 | ORPHA:3111 | Rotor syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 60 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SLCO1B3 CL E G H | 28234 | 10961 | ORPHA:3111 | Rotor syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:218800 | Crigler-Najjar syndrome, type I | | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:606785 | Crigler-najjar syndrome, type II | | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:237900 | Hyperbilirubinemia, familial transient neonatal | | | | 73 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0002904 | HP:0002904 | Hyperbilirubinemia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | . | | | 146 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ABCC2 CL E G H | 1244 | 53 | OMIM:237500 | DUBIN-JOHNSON syndrome | . | | | 119 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 29 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | GPX1 CL E G H | 2876 | 4553 | OMIM:614164 | Glutathione peroxidase deficiency | . | | | 1 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 46 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 125 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040282 - Frequent | | | 563 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 63 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | RHAG CL E G H | 6005 | 10006 | OMIM:268150 | Anemia, hemolytic, Rh-null, Regulator type | . | | | 13 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 137 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040283 - Occasional | | | 255 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | . | | | 52 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLCO1B1 CL E G H | 10599 | 10959 | ORPHA:3111 | Rotor syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | . | | | 60 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SLCO1B3 CL E G H | 28234 | 10961 | ORPHA:3111 | Rotor syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0002904 | HP:0003573 | Increased total bilirubin | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 71 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | HP:0040281 - Very frequent | | | 73 | | |
HP:0002904 | HP:0003265 | Neonatal hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | HP:0040281 - Very frequent | | | 73 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:218800 | Crigler-Najjar syndrome, type I | | | | 73 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:606785 | Crigler-najjar syndrome, type II | . | | | 73 | | |
HP:0002904 | HP:0008176 | Neonatal unconjugated hyperbilirubinemia | 1 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:237900 | Hyperbilirubinemia, familial transient neonatal | . | | | 73 | | |
HP:0002904 | HP:0008282 | Unconjugated hyperbilirubinemia | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 41 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0002904 | HP:0002908 | Conjugated hyperbilirubinemia | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |