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:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | | | | 146 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | | | | 146 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | | | | 111 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | | | | 111 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | | | | 111 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | | | | 62 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | | | | 44 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | AP1B1 CL E G H | 162 | 554 | ORPHA:171851 | MEDNIK syndrome | | | | | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | AP1S1 CL E G H | 1174 | 559 | ORPHA:171851 | MEDNIK syndrome | | | | 1 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | | | | 144 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | | | | 26 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | | | | 82 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | TMPRSS6 CL E G H | 164656 | 16517 | ORPHA:209981 | IRIDA syndrome | | | | 65 | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0031865 | HP:0031865 | Abnormal liver physiology | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | HP:0040283 - Occasional | | | 146 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040281 - Very frequent | | | 111 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | AP1B1 CL E G H | 162 | 554 | ORPHA:171851 | MEDNIK syndrome | HP:0040282 - Frequent | | | | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | AP1S1 CL E G H | 1174 | 559 | ORPHA:171851 | MEDNIK syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040282 - Frequent | | | 563 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | TJP2 CL E G H | 9414 | 11828 | OMIM:615878 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 | | | | 149 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | TMPRSS6 CL E G H | 164656 | 16517 | ORPHA:209981 | IRIDA syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0031865 | HP:0001406 | Intrahepatic cholestasis | 1 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0031865 | HP:0006575 | Intrahepatic cholestasis with episodic jaundice | 2 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0031865 | HP:0006575 | Intrahepatic cholestasis with episodic jaundice | 2 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0031865 | HP:0006575 | Intrahepatic cholestasis with episodic jaundice | 2 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | . | | | 144 | | |