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:0002613 | HP:0002613 | Biliary cirrhosis | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040284 - Very rare | | | 111 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | . | | | 1371 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | . | | | 6 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 46 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040284 - Very rare | | | 563 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | . | | | 13 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 71 | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002613 | HP:0002613 | Biliary cirrhosis | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |